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 ADAM21P1 0 genome.wustl.edu 37 14 70712917 70712917 + RNA SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 14 70712917 70712917 A G SNP ADAM21P1 ENST00000530196 human ensembl 69_37n -1 known rna NULL NULL 0.990 - - - no_errors ADAM21P1 HGNC ENSG00000235812 76 0 0.00 51 8 13.56 - - - ADAM21P1 0 genome.wustl.edu 37 14 70712917 70712917 + RNA SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 14 70712917 70712917 A G SNP ADAM21P1 ENST00000530196 human ensembl 69_37n -1 known rna NULL NULL 0.990 - - - no_errors ADAM21P1 HGNC ENSG00000235812 57 0 0.00 51 8 13.56 - - - BOLA1 0 genome.wustl.edu 37 1 149871946 149871946 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 1 149871946 149871946 G A SNP BOLA1 ENST00000369150 human ensembl 69_37n +1 known missense c.334 p.A112T 0.522 pfam_BolA,superfamily_BolA pfam_BolA,superfamily_BolA - no_errors BOLA1 HGNC ENSG00000178096 64 0 0.00 53 7 11.67 - - - BOLA1 0 genome.wustl.edu 37 1 149871946 149871946 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 1 149871946 149871946 G A SNP BOLA1 ENST00000369150 human ensembl 69_37n +1 known missense c.334 p.A112T 0.522 pfam_BolA,superfamily_BolA pfam_BolA,superfamily_BolA - no_errors BOLA1 HGNC ENSG00000178096 65 0 0.00 53 7 11.67 - - - BRF2 0 genome.wustl.edu 37 8 37702522 37702522 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 8 37702522 37702522 C T SNP BRF2 ENST00000220659 human ensembl 69_37n -1 known missense c.746 p.R249Q 0.514 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 47 0 0.00 35 7 16.67 - - - BRF2 0 genome.wustl.edu 37 8 37702522 37702522 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 8 37702522 37702522 C T SNP BRF2 ENST00000220659 human ensembl 69_37n -1 known missense c.746 p.R249Q 0.514 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 54 0 0.00 35 7 16.67 - - - C2CD3 0 genome.wustl.edu 37 11 73849826 73849826 + Silent SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 11 73849826 73849826 C T SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known silent c.894 p.K298 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 42 0 0.00 27 8 22.86 - - - C2CD3 0 genome.wustl.edu 37 11 73849826 73849826 + Silent SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 11 73849826 73849826 C T SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known silent c.894 p.K298 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 31 0 0.00 27 8 22.86 - - - CDH1 0 genome.wustl.edu 37 16 68862103 68862103 + Frame_Shift_Del DEL C C - TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 16 68862103 68862103 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.2191 p.L731fs 0.037 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 186 0 0.00 82 27 24.11 - - - CDH1 0 genome.wustl.edu 37 16 68862103 68862103 + Frame_Shift_Del DEL C C - TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 16 68862103 68862103 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.2191 p.L731fs 0.037 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 148 0 0.00 82 27 24.11 - - - CHD4 0 genome.wustl.edu 37 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 12 6702280 6702280 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.2629 p.R877W 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 37 0 0.00 18 4 18.18 - - - CHD4 0 genome.wustl.edu 37 12 6702280 6702280 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 12 6702280 6702280 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.2629 p.R877W 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 28 0 0.00 18 4 18.18 - - - CYP4A22 0 genome.wustl.edu 37 1 47611572 47611572 + Missense_Mutation SNP C C A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 1 47611572 47611572 C A SNP CYP4A22 ENST00000371891 human ensembl 69_37n +1 known missense c.1257 p.H419Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 128 0 0.00 88 17 16.19 - - - CYP4A22 0 genome.wustl.edu 37 1 47611572 47611572 + Missense_Mutation SNP C C A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 1 47611572 47611572 C A SNP CYP4A22 ENST00000371891 human ensembl 69_37n +1 known missense c.1257 p.H419Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 143 0 0.00 88 17 16.19 - - - DMD 0 genome.wustl.edu 37 X 32361404 32361404 + Splice_Site SNP C C G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e X 32361404 32361404 C G SNP DMD ENST00000357033 human ensembl 69_37n -1 known splice_site c.5587-1 e40-1 1.000 - - - no_errors DMD HGNC ENSG00000198947 74 0 0.00 40 15 27.27 - - - DMD 0 genome.wustl.edu 37 X 32361404 32361404 + Splice_Site SNP C C G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 X 32361404 32361404 C G SNP DMD ENST00000357033 human ensembl 69_37n -1 known splice_site c.5587-1 e40-1 1.000 - - - no_errors DMD HGNC ENSG00000198947 51 0 0.00 40 15 27.27 - - - EYS 0 genome.wustl.edu 37 6 65655792 65655792 + Missense_Mutation SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 6 65655792 65655792 A G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.2275 p.C759R 0.874 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 45 0 0.00 31 5 13.89 - - - EYS 0 genome.wustl.edu 37 6 65655792 65655792 + Missense_Mutation SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 6 65655792 65655792 A G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.2275 p.C759R 0.874 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 52 0 0.00 31 5 13.89 - - - FIBIN 0 genome.wustl.edu 37 11 27016341 27016341 + Missense_Mutation SNP C C A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 11 27016341 27016341 C A SNP FIBIN ENST00000318627 human ensembl 69_37n +1 known missense c.268 p.Q90K 1.000 NULL NULL - no_errors FIBIN HGNC ENSG00000176971 49 0 0.00 36 8 18.18 - - - FIBIN 0 genome.wustl.edu 37 11 27016341 27016341 + Missense_Mutation SNP C C A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 11 27016341 27016341 C A SNP FIBIN ENST00000318627 human ensembl 69_37n +1 known missense c.268 p.Q90K 1.000 NULL NULL - no_errors FIBIN HGNC ENSG00000176971 49 0 0.00 36 8 18.18 - - - HOXA11 0 genome.wustl.edu 37 7 27224434 27224434 + Missense_Mutation SNP G G T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 7 27224434 27224434 G T SNP HOXA11 ENST00000006015 human ensembl 69_37n -1 known missense c.330 p.S110R 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXA11 HGNC ENSG00000005073 63 0 0.00 45 12 21.05 - - - HOXA11 0 genome.wustl.edu 37 7 27224434 27224434 + Missense_Mutation SNP G G T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 7 27224434 27224434 G T SNP HOXA11 ENST00000006015 human ensembl 69_37n -1 known missense c.330 p.S110R 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXA11 HGNC ENSG00000005073 74 0 0.00 45 12 21.05 - - - HYDIN 0 genome.wustl.edu 37 16 70993639 70993639 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 16 70993639 70993639 C T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.6050 p.R2017H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 18 0 0.00 7 4 36.36 - - - IQCG 0 genome.wustl.edu 37 3 197670789 197670789 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 3 197670789 197670789 C T SNP IQCG ENST00000265239 human ensembl 69_37n -1 known missense c.142 p.E48K 0.171 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 142 0 0.00 85 10 10.53 - - - IQCG 0 genome.wustl.edu 37 3 197670789 197670789 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 3 197670789 197670789 C T SNP IQCG ENST00000265239 human ensembl 69_37n -1 known missense c.142 p.E48K 0.171 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 125 0 0.00 85 10 10.53 - - - MAP3K12 0 genome.wustl.edu 37 12 53877488 53877488 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 12 53877488 53877488 C T SNP MAP3K12 ENST00000267079 human ensembl 69_37n -1 known missense c.1279 p.E427K 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 21 0 0.00 12 3 20.00 - - - MAP3K12 0 genome.wustl.edu 37 12 53877488 53877488 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 12 53877488 53877488 C T SNP MAP3K12 ENST00000267079 human ensembl 69_37n -1 known missense c.1279 p.E427K 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K12 HGNC ENSG00000139625 19 0 0.00 12 3 20.00 - - - MCAM 0 genome.wustl.edu 37 11 119181178 119181178 + Splice_Site SNP T T A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 11 119181178 119181178 T A SNP MCAM ENST00000264036 human ensembl 69_37n -1 known splice_site c.1794-2 e15-2 1.000 - - - no_errors MCAM HGNC ENSG00000076706 40 0 0.00 27 5 15.62 - - - MCAM 0 genome.wustl.edu 37 11 119181178 119181178 + Splice_Site SNP T T A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 11 119181178 119181178 T A SNP MCAM ENST00000264036 human ensembl 69_37n -1 known splice_site c.1794-2 e15-2 1.000 - - - no_errors MCAM HGNC ENSG00000076706 31 0 0.00 27 5 15.62 - - - MCM3AP 0 genome.wustl.edu 37 21 47664837 47664837 + Missense_Mutation SNP G G T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 21 47664837 47664837 G T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.4922 p.A1641E 0.001 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 47 0 0.00 27 4 12.90 - - - MCM3AP 0 genome.wustl.edu 37 21 47664837 47664837 + Missense_Mutation SNP G G T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 21 47664837 47664837 G T SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.4922 p.A1641E 0.001 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 40 0 0.00 27 4 12.90 - - - MGA 0 genome.wustl.edu 37 15 42058213 42058213 + Missense_Mutation SNP T T G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 15 42058213 42058213 T G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.7933 p.L2645V 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 37 0 0.00 17 9 34.62 - - - MGA 0 genome.wustl.edu 37 15 42058213 42058213 + Missense_Mutation SNP T T G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 15 42058213 42058213 T G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.7933 p.L2645V 1.000 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 35 0 0.00 17 9 34.62 - - - MMP16 0 genome.wustl.edu 37 8 89053874 89053874 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 8 89053874 89053874 C T SNP MMP16 ENST00000286614 human ensembl 69_37n -1 known missense c.1639 p.D547N 1.000 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 94 0 0.00 58 7 10.77 - - - MMP16 0 genome.wustl.edu 37 8 89053874 89053874 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 8 89053874 89053874 C T SNP MMP16 ENST00000286614 human ensembl 69_37n -1 known missense c.1639 p.D547N 1.000 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 66 0 0.00 58 7 10.77 - - - OR11H12 0 genome.wustl.edu 37 14 19377927 19377927 + Missense_Mutation SNP T T C TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 14 19377927 19377927 T C SNP OR11H12 ENST00000550708 human ensembl 69_37n +1 known missense c.334 p.C112R 0.110 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H12 Clone_based_vega_gene ENSG00000257115 78 0 0.00 56 10 15.15 - - - OR11H12 0 genome.wustl.edu 37 14 19377927 19377927 + Missense_Mutation SNP T T C TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 14 19377927 19377927 T C SNP OR11H12 ENST00000550708 human ensembl 69_37n +1 known missense c.334 p.C112R 0.110 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H12 Clone_based_vega_gene ENSG00000257115 70 0 0.00 56 10 15.15 - - - PBX2P1 0 genome.wustl.edu 37 3 142895516 142895516 + RNA SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 3 142895516 142895516 G A SNP PBX2P1 ENST00000560287 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 108 0 0.00 87 11 11.22 - - - PBX2P1 0 genome.wustl.edu 37 3 142895516 142895516 + RNA SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 3 142895516 142895516 G A SNP PBX2P1 ENST00000560287 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 95 0 0.00 87 11 11.22 - - - PCCA 0 genome.wustl.edu 37 13 100982917 100982917 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 13 100982917 100982917 G A SNP PCCA ENST00000376285 human ensembl 69_37n +1 known missense c.1532 p.G511D 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 41 0 0.00 33 7 17.50 - - - PCCA 0 genome.wustl.edu 37 13 100982917 100982917 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 13 100982917 100982917 G A SNP PCCA ENST00000376285 human ensembl 69_37n +1 known missense c.1532 p.G511D 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 36 0 0.00 33 7 17.50 - - - PCCB 0 genome.wustl.edu 37 3 136048838 136048838 + Silent SNP T T G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 3 136048838 136048838 T G SNP PCCB ENST00000251654 human ensembl 69_37n +1 known silent c.1590 p.P530 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 67 0 0.00 39 9 18.75 - - - PCCB 0 genome.wustl.edu 37 3 136048838 136048838 + Silent SNP T T G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 3 136048838 136048838 T G SNP PCCB ENST00000251654 human ensembl 69_37n +1 known silent c.1590 p.P530 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 51 0 0.00 39 9 18.75 - - - POLDIP2 0 genome.wustl.edu 37 17 26684529 26684529 + RNA DEL G G - TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 17 26684529 26684529 G - DEL POLDIP2 ENST00000003607 human ensembl 69_37n -1 known rna NULL NULL 0.993 - - - no_errors POLDIP2 HGNC ENSG00000004142 8 0 0.00 3 3 50.00 - - - PSMD13 0 genome.wustl.edu 37 11 252640 252640 + RNA SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 11 252640 252640 G A SNP PSMD13 ENST00000532025 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PSMD13 HGNC ENSG00000185627 60 0 0.00 38 5 11.63 - - - PSMD13 0 genome.wustl.edu 37 11 252640 252640 + RNA SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 11 252640 252640 G A SNP PSMD13 ENST00000532025 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PSMD13 HGNC ENSG00000185627 39 0 0.00 38 5 11.63 - - - PTPRQ 0 genome.wustl.edu 37 12 81067076 81067076 + Nonsense_Mutation SNP A A T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 12 81067076 81067076 A T SNP PTPRQ ENST00000532722 human ensembl 69_37n +1 novel nonsense c.5821 p.R1941* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTPRQ HGNC ENSG00000139304 65 0 0.00 25 6 19.35 - - - PTPRQ 0 genome.wustl.edu 37 12 81067076 81067076 + Nonsense_Mutation SNP A A T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 12 81067076 81067076 A T SNP PTPRQ ENST00000532722 human ensembl 69_37n +1 novel nonsense c.5821 p.R1941* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PTPRQ HGNC ENSG00000139304 58 0 0.00 25 6 19.35 - - - RAD51AP2 0 genome.wustl.edu 37 2 17697546 17697546 + Missense_Mutation SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 2 17697546 17697546 A G SNP RAD51AP2 ENST00000399080 human ensembl 69_37n -1 known missense c.2137 p.C713R 0.012 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 47 0 0.00 40 6 13.04 - - - RAD51AP2 0 genome.wustl.edu 37 2 17697546 17697546 + Missense_Mutation SNP A A G TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 2 17697546 17697546 A G SNP RAD51AP2 ENST00000399080 human ensembl 69_37n -1 known missense c.2137 p.C713R 0.012 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 46 0 0.00 40 6 13.04 - - - RFPL2 0 genome.wustl.edu 37 22 32587157 32587157 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 22 32587157 32587157 C T SNP RFPL2 ENST00000400237 human ensembl 69_37n -1 known missense c.739 p.V247M 0.812 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors RFPL2 HGNC ENSG00000128253 167 0 0.00 100 21 17.36 - - - RFPL2 0 genome.wustl.edu 37 22 32587157 32587157 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 22 32587157 32587157 C T SNP RFPL2 ENST00000400237 human ensembl 69_37n -1 known missense c.739 p.V247M 0.812 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors RFPL2 HGNC ENSG00000128253 155 0 0.00 100 21 17.36 - - - SLITRK6 0 genome.wustl.edu 37 13 86369296 86369296 + Missense_Mutation SNP T T A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 13 86369296 86369296 T A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.1348 p.I450L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 101 0 0.00 59 16 21.33 - - - SLITRK6 0 genome.wustl.edu 37 13 86369296 86369296 + Missense_Mutation SNP T T A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 13 86369296 86369296 T A SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.1348 p.I450L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 93 0 0.00 59 16 21.33 - - - SMARCC1 0 genome.wustl.edu 37 3 47702933 47702933 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 3 47702933 47702933 C T SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.2171 p.R724Q 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 30 0 0.00 22 4 15.38 - - - SMARCC1 0 genome.wustl.edu 37 3 47702933 47702933 + Missense_Mutation SNP C C T TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 3 47702933 47702933 C T SNP SMARCC1 ENST00000254480 human ensembl 69_37n -1 known missense c.2171 p.R724Q 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 41 0 0.00 22 4 15.38 - - - TBX3 0 genome.wustl.edu 37 12 115114233 115114236 + Frame_Shift_Del DEL TCTT TCTT - TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 TCTT TCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 12 115114233 115114236 TCTT - DEL TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_del c.984_981 p.E327fs 0.924:0.999:1.000:1.000 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 73 0 0.00 45 6 11.76 - - - TBX3 0 genome.wustl.edu 37 12 115114233 115114236 + Frame_Shift_Del DEL TCTT TCTT - TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 TCTT TCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 12 115114233 115114236 TCTT - DEL TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_del c.984_981 p.E327fs 0.924:0.999:1.000:1.000 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 60 0 0.00 45 6 11.76 - - - TMEM179 0 genome.wustl.edu 37 14 105059982 105059982 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b a9f8fff2-6c84-4731-a120-0f4be959c62e 14 105059982 105059982 G A SNP TMEM179 ENST00000556573 human ensembl 69_37n -1 known missense c.536 p.A179V 1.000 NULL NULL - no_errors TMEM179 HGNC ENSG00000258986 128 0 0.00 87 14 13.86 - - - TMEM179 0 genome.wustl.edu 37 14 105059982 105059982 + Missense_Mutation SNP G G A TCGA-A7-A5ZX-01A-12D-A29N-09 TCGA-A7-A5ZX-11A-51D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1e19a22f-97e3-4a9a-aa55-fb18dd6b674b 438bd1bb-c0b2-4760-a9ac-5ffd547cf382 14 105059982 105059982 G A SNP TMEM179 ENST00000556573 human ensembl 69_37n -1 known missense c.536 p.A179V 1.000 NULL NULL - no_errors TMEM179 HGNC ENSG00000258986 95 0 0.00 87 14 13.86 - - -