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 ADAMTS6 0 genome.wustl.edu 37 5 64747324 64747324 + Missense_Mutation SNP C C T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 5 64747324 64747324 C T SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.1051 p.D351N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 522 0 0.00 385 76 16.41 - - - ADAMTS6 0 genome.wustl.edu 37 5 64747324 64747324 + Missense_Mutation SNP C C T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 5 64747324 64747324 C T SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.1051 p.D351N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 529 0 0.00 385 76 16.41 - - - ADAMTSL5 0 genome.wustl.edu 37 19 1507614 1507614 + Silent SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 19 1507614 1507614 G A SNP ADAMTSL5 ENST00000413997 human ensembl 69_37n -1 known silent c.660 p.T220 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC ENSG00000185761 53 0 0.00 47 9 15.79 - - - ADAMTSL5 0 genome.wustl.edu 37 19 1507614 1507614 + Silent SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 19 1507614 1507614 G A SNP ADAMTSL5 ENST00000413997 human ensembl 69_37n -1 known silent c.660 p.T220 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC ENSG00000185761 50 0 0.00 47 9 15.79 - - - CD86 0 genome.wustl.edu 37 3 121825056 121825056 + Nonsense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 3 121825056 121825056 C G SNP CD86 ENST00000478741 human ensembl 69_37n +1 novel nonsense c.398 p.S133* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD86 HGNC ENSG00000114013 114 0 0.00 84 19 18.45 - - - CD86 0 genome.wustl.edu 37 3 121825056 121825056 + Nonsense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 3 121825056 121825056 C G SNP CD86 ENST00000478741 human ensembl 69_37n +1 novel nonsense c.398 p.S133* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD86 HGNC ENSG00000114013 129 0 0.00 84 19 18.45 - - - CPNE5 0 genome.wustl.edu 37 6 36713227 36713227 + Silent SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 6 36713227 36713227 G A SNP CPNE5 ENST00000244751 human ensembl 69_37n -1 known silent c.1266 p.S422 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 24 0 0.00 32 7 17.50 - - - CPNE5 0 genome.wustl.edu 37 6 36713227 36713227 + Silent SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 6 36713227 36713227 G A SNP CPNE5 ENST00000244751 human ensembl 69_37n -1 known silent c.1266 p.S422 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 26 0 0.00 32 7 17.50 - - - EFHA2 0 genome.wustl.edu 37 8 16944529 16944529 + Missense_Mutation SNP A A G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 8 16944529 16944529 A G SNP EFHA2 ENST00000519044 human ensembl 69_37n +1 novel missense c.407 p.K136R 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EFHA2 HGNC ENSG00000155970 529 0 0.00 375 65 14.77 - - - EFHA2 0 genome.wustl.edu 37 8 16944529 16944529 + Missense_Mutation SNP A A G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 8 16944529 16944529 A G SNP EFHA2 ENST00000519044 human ensembl 69_37n +1 novel missense c.407 p.K136R 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EFHA2 HGNC ENSG00000155970 473 0 0.00 375 65 14.77 - - - FAM171A1 0 genome.wustl.edu 37 10 15290661 15290661 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 10 15290661 15290661 G A SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.731 p.A244V 0.966 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 47 0 0.00 51 13 20.31 - - - FAM171A1 0 genome.wustl.edu 37 10 15290661 15290661 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 10 15290661 15290661 G A SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.731 p.A244V 0.966 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 49 0 0.00 51 13 20.31 - - - FAM182A 0 genome.wustl.edu 37 20 26063548 26063548 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 20 26063548 26063548 G A SNP FAM182A ENST00000246000 human ensembl 69_37n +1 known missense c.397 p.E133K 0.051 NULL NULL - no_errors FAM182A HGNC ENSG00000125804 335 0 0.00 277 43 13.44 - - - FAM182A 0 genome.wustl.edu 37 20 26063548 26063548 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 20 26063548 26063548 G A SNP FAM182A ENST00000246000 human ensembl 69_37n +1 known missense c.397 p.E133K 0.051 NULL NULL - no_errors FAM182A HGNC ENSG00000125804 316 0 0.00 277 43 13.44 - - - GTF2F2 0 genome.wustl.edu 37 13 45694797 45694797 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 13 45694797 45694797 G A SNP GTF2F2 ENST00000340473 human ensembl 69_37n +1 known missense c.7 p.E3K 1.000 superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 30 0 0.00 22 4 15.38 - - - GTF2F2 0 genome.wustl.edu 37 13 45694797 45694797 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 13 45694797 45694797 G A SNP GTF2F2 ENST00000340473 human ensembl 69_37n +1 known missense c.7 p.E3K 1.000 superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 32 0 0.00 22 4 15.38 - - - HCFC2 0 genome.wustl.edu 37 12 104461732 104461732 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 12 104461732 104461732 G A SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.320 p.R107H 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 420 0 0.00 306 53 14.64 - - - HCFC2 0 genome.wustl.edu 37 12 104461732 104461732 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 12 104461732 104461732 G A SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.320 p.R107H 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 367 0 0.00 306 53 14.64 - - - HTT 0 genome.wustl.edu 37 4 3148607 3148607 + Nonsense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 4 3148607 3148607 C G SNP HTT ENST00000355072 human ensembl 69_37n +1 known nonsense c.3227 p.S1076* 0.998 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 312 0 0.00 273 61 18.26 - - - HTT 0 genome.wustl.edu 37 4 3148607 3148607 + Nonsense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 4 3148607 3148607 C G SNP HTT ENST00000355072 human ensembl 69_37n +1 known nonsense c.3227 p.S1076* 0.998 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 332 0 0.00 273 61 18.26 - - - LIFR 0 genome.wustl.edu 37 5 38506735 38506735 + Splice_Site DEL C C - TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 5 38506735 38506735 C - DEL LIFR ENST00000263409 human ensembl 69_37n -1 known splice_site_del c.992-1 e7-1 1.000 - - - no_errors LIFR HGNC ENSG00000113594 150 0 0.00 111 19 14.39 - - - LIFR 0 genome.wustl.edu 37 5 38506735 38506735 + Splice_Site DEL C C - TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 5 38506735 38506735 C - DEL LIFR ENST00000263409 human ensembl 69_37n -1 known splice_site_del c.992-1 e7-1 1.000 - - - no_errors LIFR HGNC ENSG00000113594 149 0 0.00 111 19 14.39 - - - LRRIQ1 0 genome.wustl.edu 37 12 85460647 85460647 + Missense_Mutation SNP A A C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 12 85460647 85460647 A C SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.2666 p.E889A 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 254 1 0.39 178 45 20.18 - - - LRRIQ1 0 genome.wustl.edu 37 12 85460647 85460647 + Missense_Mutation SNP A A C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 12 85460647 85460647 A C SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.2666 p.E889A 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 197 1 0.51 178 45 20.18 - - - LTBP1 0 genome.wustl.edu 37 2 33540311 33540311 + Missense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 2 33540311 33540311 C G SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.3708 p.I1236M 0.964 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 226 0 0.00 168 33 16.34 - - - LTBP1 0 genome.wustl.edu 37 2 33540311 33540311 + Missense_Mutation SNP C C G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 2 33540311 33540311 C G SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.3708 p.I1236M 0.964 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 224 0 0.00 168 33 16.34 - - - MAP3K1 0 genome.wustl.edu 37 5 56183240 56183241 + Frame_Shift_Ins INS - - T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 5 56183240 56183241 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.4150_4151 p.R1385fs 1.000:1.000 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 417 0 0.00 305 46 13.11 - - - MAP3K1 0 genome.wustl.edu 37 5 56183240 56183241 + Frame_Shift_Ins INS - - T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 5 56183240 56183241 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.4150_4151 p.R1385fs 1.000:1.000 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 402 0 0.00 305 46 13.11 - - - MAP3K1 0 genome.wustl.edu 37 5 56183296 56183297 + Frame_Shift_Ins INS - - G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 5 56183296 56183297 - G INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.4206_4207 p.E1403fs 0.930:1.000 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 498 0 0.00 389 60 13.36 - - - MAP3K1 0 genome.wustl.edu 37 5 56183296 56183297 + Frame_Shift_Ins INS - - G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 5 56183296 56183297 - G INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.4206_4207 p.E1403fs 0.930:1.000 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 471 0 0.00 389 60 13.36 - - - MST1P9 0 genome.wustl.edu 37 1 17085995 17085996 + Frame_Shift_Ins INS - - C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 1 17085995 17085996 - C INS MST1P9 ENST00000334998 human ensembl 69_37n -1 known frame_shift_ins c.902_901 p.A301fs 0.980:0.979 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 27 0 0.00 24 3 11.11 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 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 229 0 0.00 204 28 12.07 - - - PPP3CA 0 genome.wustl.edu 37 4 101950343 101950343 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 4 101950343 101950343 T C SNP PPP3CA ENST00000394854 human ensembl 69_37n -1 known missense c.1349 p.E450G 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 154 0 0.00 126 17 11.89 - - - PPP3CA 0 genome.wustl.edu 37 4 101950343 101950343 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 4 101950343 101950343 T C SNP PPP3CA ENST00000394854 human ensembl 69_37n -1 known missense c.1349 p.E450G 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 180 0 0.00 126 17 11.89 - - - RFX2 0 genome.wustl.edu 37 19 6001886 6001886 + Missense_Mutation SNP G G T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 19 6001886 6001886 G T SNP RFX2 ENST00000303657 human ensembl 69_37n -1 known missense c.1799 p.A600D 0.573 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 42 0 0.00 28 5 15.15 - - - RFX2 0 genome.wustl.edu 37 19 6001886 6001886 + Missense_Mutation SNP G G T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 19 6001886 6001886 G T SNP RFX2 ENST00000303657 human ensembl 69_37n -1 known missense c.1799 p.A600D 0.573 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 30 0 0.00 28 5 15.15 - - - SPINK5 0 genome.wustl.edu 37 5 147484520 147484520 + Missense_Mutation SNP A A T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 5 147484520 147484520 A T SNP SPINK5 ENST00000359874 human ensembl 69_37n +1 known missense c.1436 p.Q479L 0.801 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 362 0 0.00 289 53 15.50 - - - SPINK5 0 genome.wustl.edu 37 5 147484520 147484520 + Missense_Mutation SNP A A T TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 5 147484520 147484520 A T SNP SPINK5 ENST00000359874 human ensembl 69_37n +1 known missense c.1436 p.Q479L 0.801 pfam_Kazal-type_dom,smart_Prot_inh_Kazal pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal - no_errors SPINK5 HGNC ENSG00000133710 303 0 0.00 289 53 15.50 - - - TMCC1 0 genome.wustl.edu 37 3 129370451 129370451 + Missense_Mutation SNP A A C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 3 129370451 129370451 A C SNP TMCC1 ENST00000393238 human ensembl 69_37n -1 known missense c.1835 p.V612G 0.995 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 217 1 0.46 141 25 15.06 - - - TTC17 0 genome.wustl.edu 37 11 43428954 43428954 + Missense_Mutation SNP G G A TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 11 43428954 43428954 G A SNP TTC17 ENST00000039989 human ensembl 69_37n +1 known missense c.1891 p.A631T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 324 0 0.00 249 40 13.84 - - - ZCCHC12 0 genome.wustl.edu 37 X 117960412 117960412 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 X 117960412 117960412 T C SNP ZCCHC12 ENST00000310164 human ensembl 69_37n +1 known missense c.1205 p.L402P 0.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 58 0 0.00 53 8 13.11 - - - ZCCHC12 0 genome.wustl.edu 37 X 117960412 117960412 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f X 117960412 117960412 T C SNP ZCCHC12 ENST00000310164 human ensembl 69_37n +1 known missense c.1205 p.L402P 0.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 65 0 0.00 53 8 13.11 - - - ZNF619 0 genome.wustl.edu 37 3 40529529 40529529 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 42ae8faa-3a1c-4068-a71e-612c411bf102 3 40529529 40529529 T C SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known missense c.1648 p.C550R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 411 0 0.00 316 48 13.01 - - - ZNF619 0 genome.wustl.edu 37 3 40529529 40529529 + Missense_Mutation SNP T T C TCGA-BH-A0BO-01A-23D-A12B-09 TCGA-BH-A0BO-11A-11D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 63af8579-99b1-4f81-92a6-4e3a31715be1 2f936210-a942-4f9b-8456-04c8e8cfb09f 3 40529529 40529529 T C SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known missense c.1648 p.C550R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 392 1 0.25 316 48 13.01 - - -