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 AGAP3 0 genome.wustl.edu 37 7 150840935 150840935 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 7 150840935 150840935 G A SNP AGAP3 ENST00000397238 human ensembl 69_37n +1 known missense c.2641 p.G881R 0.997 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 15 0 0.00 9 5 35.71 - - - ALMS1 0 genome.wustl.edu 37 2 73717343 73717343 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 2 73717343 73717343 C G SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.8254 p.H2752D 0.998 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 87 0 0.00 19 6 24.00 - - - ALMS1 0 genome.wustl.edu 37 2 73717959 73717959 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 2 73717959 73717959 C T SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.8870 p.S2957L 0.398 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 115 0 0.00 27 9 25.00 - - - ALMS1 0 genome.wustl.edu 37 2 73718057 73718057 + Nonsense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 2 73718057 73718057 C T SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known nonsense c.8968 p.Q2990* 0.944 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 102 0 0.00 18 8 30.77 - - - ARMCX3 0 genome.wustl.edu 37 X 100880821 100880821 + Silent SNP A A G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 100880821 100880821 A G SNP ARMCX3 ENST00000341189 human ensembl 69_37n +1 known silent c.852 p.Q284 0.991 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 52 0 0.00 21 4 16.00 - - - ASMT 0 genome.wustl.edu 37 X 1755428 1755428 + Missense_Mutation SNP G G C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 1755428 1755428 G C SNP ASMT ENST00000381241 human ensembl 69_37n +1 known missense c.885 p.E295D 0.000 pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type pfam_O_MeTrfase_2,pirsf_O-MeTrfase_CAOMT-type - no_errors ASMT HGNC ENSG00000196433 237 0 0.00 80 20 20.00 - - - BPIFB1 0 genome.wustl.edu 37 20 31890728 31890728 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 20 31890728 31890728 G A SNP BPIFB1 ENST00000253354 human ensembl 69_37n +1 known missense c.988 p.D330N 0.000 superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 53 0 0.00 22 4 15.38 - - - CCDC48 0 genome.wustl.edu 37 3 128758648 128758648 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 3 128758648 128758648 C G SNP CCDC48 ENST00000436022 human ensembl 69_37n +1 known missense c.443 p.S148C 0.003 NULL NULL - no_errors CCDC48 HGNC ENSG00000114654 27 0 0.00 12 7 36.84 - - - CFH 0 genome.wustl.edu 37 1 196654268 196654268 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 196654268 196654268 G A SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.865 p.E289K 0.791 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 55 0 0.00 6 7 53.85 - - - CHRDL1 0 genome.wustl.edu 37 X 110035325 110035325 + Missense_Mutation SNP G G C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 110035325 110035325 G C SNP CHRDL1 ENST00000372042 human ensembl 69_37n -1 known missense c.85 p.Q29E 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 161 0 0.00 54 12 18.18 - - - CLEC12A 0 genome.wustl.edu 37 12 10137481 10137481 + Silent SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 12 10137481 10137481 C T SNP CLEC12A ENST00000355690 human ensembl 69_37n +1 known silent c.684 p.N228 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 139 1 0.71 33 9 21.43 - - - CR2 0 genome.wustl.edu 37 1 207648485 207648485 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 207648485 207648485 C G SNP CR2 ENST00000367057 human ensembl 69_37n +1 known missense c.2640 p.I880M 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 168 0 0.00 53 15 22.06 - - - CSMD2 0 genome.wustl.edu 37 1 34002643 34002643 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 34002643 34002643 C G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.9858 p.Q3286H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 95 0 0.00 31 11 26.19 - - - CTSE 0 genome.wustl.edu 37 1 206331149 206331149 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 206331149 206331149 G A SNP CTSE ENST00000360218 human ensembl 69_37n +1 known missense c.1013 p.G338E 0.390 NULL pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSE HGNC ENSG00000196188 128 0 0.00 31 8 20.51 - - - CYP2B6 0 genome.wustl.edu 37 19 41510050 41510050 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 19 41510050 41510050 C G SNP CYP2B6 ENST00000324071 human ensembl 69_37n +1 known missense c.316 p.P106A 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 48 0 0.00 21 6 22.22 - - - DNTT 0 genome.wustl.edu 37 10 98087355 98087355 + Silent SNP G G C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 10 98087355 98087355 G C SNP DNTT ENST00000371174 human ensembl 69_37n +1 known silent c.1005 p.R335 0.990 pfam_Nucleotidyltransferase,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 108 0 0.00 36 6 14.29 - - - ENPEP 0 genome.wustl.edu 37 4 111474542 111474542 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 4 111474542 111474542 C T SNP ENPEP ENST00000265162 human ensembl 69_37n +1 known missense c.2573 p.S858L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 251 0 0.00 50 26 34.21 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 29 0 0.00 14 3 17.65 - - - FOLH1B 0 genome.wustl.edu 37 11 89420578 89420578 + RNA SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 11 89420578 89420578 C T SNP FOLH1B ENST00000525540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 159 1 0.62 35 21 37.50 - - - GH2 0 genome.wustl.edu 37 17 61957656 61957656 + Silent SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 17 61957656 61957656 G A SNP GH2 ENST00000456543 human ensembl 69_37n -1 known silent c.675 p.T225 0.019 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 109 0 0.00 50 9 15.25 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685300 23685301 + Frame_Shift_Del DEL TT TT - TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 15 23685300 23685301 TT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative frame_shift_del c.2322_2321 p.E774fs 0.104:0.092 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 10 0 0.00 4 2 33.33 - - - GOLGA6L7P 0 genome.wustl.edu 37 15 29092336 29092336 + RNA SNP A A G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 15 29092336 29092336 A G SNP GOLGA6L7P ENST00000569815 human ensembl 69_37n -1 putative rna NULL NULL 0.059 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 43 0 0.00 15 4 21.05 - - - HDAC1 0 genome.wustl.edu 37 1 32793146 32793146 + Silent SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 32793146 32793146 G A SNP HDAC1 ENST00000373548 human ensembl 69_37n +1 known silent c.504 p.Q168 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 27 0 0.00 11 5 31.25 - - - HDX 0 genome.wustl.edu 37 X 83724462 83724462 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 83724462 83724462 C G SNP HDX ENST00000297977 human ensembl 69_37n -1 known missense c.269 p.R90P 0.040 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 201 0 0.00 64 16 20.00 - - - HUS1 0 genome.wustl.edu 37 7 48018139 48018139 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 7 48018139 48018139 C T SNP HUS1 ENST00000258774 human ensembl 69_37n -1 known missense c.232 p.E78K 1.000 pfam_Hus1,pirsf_Cell_cycle_HUS1 pfam_Hus1,pirsf_Cell_cycle_HUS1 - no_errors HUS1 HGNC ENSG00000136273 178 0 0.00 51 16 23.88 - - - KIRREL3 0 genome.wustl.edu 37 11 126391325 126391325 + Silent SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 11 126391325 126391325 C T SNP KIRREL3 ENST00000525144 human ensembl 69_37n -1 known silent c.318 p.L106 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL3 HGNC ENSG00000149571 53 0 0.00 28 9 24.32 - - - LRP1B 0 genome.wustl.edu 37 2 141819658 141819658 + Nonsense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 2 141819658 141819658 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known nonsense c.1198 p.Q400* 0.985 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 275 0 0.00 67 12 15.19 - - - MAGEE1 0 genome.wustl.edu 37 X 75651058 75651058 + Missense_Mutation SNP T T C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 75651058 75651058 T C SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known missense c.2735 p.M912T 0.998 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 114 0 0.00 45 8 15.09 - - - MGAM 0 genome.wustl.edu 37 7 141754683 141754683 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 7 141754683 141754683 C T SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.3289 p.R1097C 0.098 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 87 0 0.00 29 7 19.44 - - - MRPL35 0 genome.wustl.edu 37 2 86434315 86434315 + Silent SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 2 86434315 86434315 C T SNP MRPL35 ENST00000337109 human ensembl 69_37n +1 known silent c.243 p.P81 0.988 NULL pfam_Ribosomal_L35 - no_errors MRPL35 HGNC ENSG00000132313 63 0 0.00 15 11 42.31 - - - MYO16 0 genome.wustl.edu 37 13 109753162 109753162 + Missense_Mutation SNP G G T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 13 109753162 109753162 G T SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.3299 p.R1100L 0.002 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 81 0 0.00 28 7 20.00 - - - OVCH1 0 genome.wustl.edu 37 12 29649525 29649525 + Silent SNP A A G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 12 29649525 29649525 A G SNP OVCH1 ENST00000318184 human ensembl 69_37n -1 known silent c.147 p.S49 0.018 superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6 - no_errors OVCH1 HGNC ENSG00000187950 103 0 0.00 31 14 31.11 - - - PCSK2 0 genome.wustl.edu 37 20 17446160 17446160 + Missense_Mutation SNP G G C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 20 17446160 17446160 G C SNP PCSK2 ENST00000262545 human ensembl 69_37n +1 known missense c.1392 p.E464D 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 68 0 0.00 17 13 43.33 - - - PDS5B 0 genome.wustl.edu 37 13 33281097 33281097 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 13 33281097 33281097 C T SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.1883 p.S628L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 83 0 0.00 24 6 20.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 95 0 0.00 24 22 47.83 - - - PROSC 0 genome.wustl.edu 37 8 37633453 37633453 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 8 37633453 37633453 G A SNP PROSC ENST00000521494 human ensembl 69_37n +1 putative missense c.521 p.G174E 0.186 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PROSC HGNC ENSG00000147471 132 0 0.00 46 26 36.11 - - - PSMD11 0 genome.wustl.edu 37 17 30781593 30781593 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 17 30781593 30781593 C G SNP PSMD11 ENST00000261712 human ensembl 69_37n +1 known missense c.274 p.L92V 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 167 0 0.00 20 23 53.49 - - - RERE 0 genome.wustl.edu 37 1 8421432 8421432 + Missense_Mutation SNP G G T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 8421432 8421432 G T SNP RERE ENST00000337907 human ensembl 69_37n -1 known missense c.2135 p.S712Y 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 140 0 0.00 59 25 29.76 - - - RNF40 0 genome.wustl.edu 37 16 30778177 30778177 + Missense_Mutation SNP T T A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 16 30778177 30778177 T A SNP RNF40 ENST00000324685 human ensembl 69_37n +1 known missense c.1409 p.L470Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 55 0 0.00 24 4 14.29 - - - RP2 0 genome.wustl.edu 37 X 46696579 46696579 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc X 46696579 46696579 C G SNP RP2 ENST00000218340 human ensembl 69_37n +1 known missense c.44 p.S15W 0.997 pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 34 0 0.00 25 5 16.67 - - - RTN3 0 genome.wustl.edu 37 11 63487595 63487595 + Missense_Mutation SNP G G C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 11 63487595 63487595 G C SNP RTN3 ENST00000377819 human ensembl 69_37n +1 known missense c.1621 p.E541Q 0.201 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 85 0 0.00 18 4 18.18 - - - RUFY2 0 genome.wustl.edu 37 10 70152941 70152941 + Missense_Mutation SNP T T C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 10 70152941 70152941 T C SNP RUFY2 ENST00000388768 human ensembl 69_37n -1 known missense c.709 p.I237V 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 161 0 0.00 20 5 20.00 - - - SGK3 0 genome.wustl.edu 37 8 67740896 67740896 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 8 67740896 67740896 C G SNP SGK3 ENST00000262211 human ensembl 69_37n +1 known missense c.425 p.S142C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC ENSG00000104205 293 0 0.00 96 20 17.24 - - - SHISA4 0 genome.wustl.edu 37 1 201859608 201859608 + Nonsense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 201859608 201859608 C G SNP SHISA4 ENST00000362011 human ensembl 69_37n +1 known nonsense c.272 p.S91* 0.995 NULL NULL - no_errors SHISA4 HGNC ENSG00000198892 128 0 0.00 48 9 15.79 - - - SIGLEC8 0 genome.wustl.edu 37 19 51958011 51958011 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 19 51958011 51958011 C G SNP SIGLEC8 ENST00000321424 human ensembl 69_37n -1 known missense c.1075 p.V359L 0.003 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC ENSG00000105366 126 0 0.00 53 12 18.46 - - - SLC26A10 0 genome.wustl.edu 37 12 58018733 58018733 + Nonsense_Mutation SNP G G T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 12 58018733 58018733 G T SNP SLC26A10 ENST00000320442 human ensembl 69_37n +1 known nonsense c.1312 p.E438* 0.006 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 166 0 0.00 44 22 33.33 - - - SLC39A4 0 genome.wustl.edu 37 8 145638248 145638248 + Silent SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 8 145638248 145638248 G A SNP SLC39A4 ENST00000301305 human ensembl 69_37n -1 known silent c.1710 p.F570 0.924 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 12 0 0.00 3 6 66.67 - - - SPATA6 0 genome.wustl.edu 37 1 48918720 48918720 + Frame_Shift_Del DEL T T - TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 48918720 48918720 T - DEL SPATA6 ENST00000371847 human ensembl 69_37n -1 known frame_shift_del c.135 p.Q45fs 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 129 0 0.00 54 7 11.29 - - - SPPL2A 0 genome.wustl.edu 37 15 51024862 51024862 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 15 51024862 51024862 C T SNP SPPL2A ENST00000261854 human ensembl 69_37n -1 known missense c.952 p.D318N 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2A HGNC ENSG00000138600 179 0 0.00 27 8 22.86 - - - SULF1 0 genome.wustl.edu 37 8 70550877 70550877 + Nonsense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 8 70550877 70550877 C T SNP SULF1 ENST00000260128 human ensembl 69_37n +1 known nonsense c.2425 p.Q809* 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 229 0 0.00 66 15 18.52 - - - SYNE1 0 genome.wustl.edu 37 6 152558036 152558036 + Silent SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 6 152558036 152558036 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.20115 p.L6705 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 87 0 0.00 25 5 16.67 - - - TNFRSF9 0 genome.wustl.edu 37 1 7993230 7993231 + Frame_Shift_Ins INS - - ATAT TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 7993230 7993231 - ATAT INS TNFRSF9 ENST00000377507 human ensembl 69_37n -1 known frame_shift_ins c.671_670 p.F224fs 0.918:0.008 prints_TNFR_9 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF9 HGNC ENSG00000049249 74 0 0.00 18 2 10.00 - - - TP53 0 genome.wustl.edu 37 17 7578290 7578290 + Splice_Site SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 17 7578290 7578290 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.560-1 e5-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 103 0 0.00 33 9 21.43 - - - TRPC7 0 genome.wustl.edu 37 5 135692820 135692820 + Missense_Mutation SNP C C T TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 5 135692820 135692820 C T SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known missense c.256 p.V86M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 51 0 0.00 9 5 35.71 - - - TSPEAR 0 genome.wustl.edu 37 21 45929173 45929173 + Frame_Shift_Del DEL G G - TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 21 45929173 45929173 G - DEL TSPEAR ENST00000323084 human ensembl 69_37n -1 known frame_shift_del c.1663 p.Q555fs 0.075 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 79 0 0.00 18 2 10.00 - - - WDR78 0 genome.wustl.edu 37 1 67371056 67371056 + Missense_Mutation SNP T T C TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 1 67371056 67371056 T C SNP WDR78 ENST00000371026 human ensembl 69_37n -1 known missense c.173 p.N58S 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 176 0 0.00 47 13 21.67 - - - XRCC1 0 genome.wustl.edu 37 19 44055732 44055732 + Missense_Mutation SNP G G A TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 19 44055732 44055732 G A SNP XRCC1 ENST00000262887 human ensembl 69_37n -1 known missense c.1190 p.P397L 1.000 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 20 0 0.00 14 4 22.22 - - - ZNF627 0 genome.wustl.edu 37 19 11728555 11728555 + Missense_Mutation SNP C C G TCGA-BH-A208-01A-11D-A159-09 TCGA-BH-A208-11A-51D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ae749fbb-6de7-4c51-b9d6-80a2ce7b5a29 e3c69830-05a7-4679-8d75-37591eade0bc 19 11728555 11728555 C G SNP ZNF627 ENST00000361113 human ensembl 69_37n +1 known missense c.1237 p.H413D 0.975 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 ZNF627 HGNC ENSG00000198551 83 0 0.00 31 6 16.22 - - -