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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF MTHFR 0 genome.wustl.edu 37 1 11861224 11861224 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 1 11861224 11861224 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.592 p.R198W 0.998 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 203 0 0 134 12 8.21918 FLG 0 genome.wustl.edu 37 1 152283625 152283625 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 1 152283625 152283625 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3737 p.S1246I 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 507 0 0 431 42 8.87949 MUC1 0 genome.wustl.edu 37 1 155160774 155160774 + Missense_Mutation SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 1 155160774 155160774 G T SNP MUC1 ENST00000368395 human ensembl 74_37 -1 known missense c.753 p.S251R 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 66 0 0 77 7 8.33333 LHX8 0 genome.wustl.edu 37 1 75602794 75602794 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 1 75602794 75602794 G A SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 58 0 0 59 9 13.2353 MRGPRX2 0 genome.wustl.edu 37 11 19077900 19077900 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 11 19077900 19077900 C T SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.50 p.G17E 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 405 0 0 319 40 11.1421 PDHX 0 genome.wustl.edu 37 11 35006231 35006231 + Missense_Mutation SNP G G C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 11 35006231 35006231 G C SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.1138 p.D380H 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 132 0 0 109 10 8.40336 BRMS1 0 genome.wustl.edu 37 11 66105194 66105194 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 11 66105194 66105194 G A SNP BRMS1 ENST00000425825 human ensembl 74_37 -1 known missense c.818 p.A273V 0.000 NULL pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 10 0 0 16 14 46.6667 PDE2A 0 genome.wustl.edu 37 11 72288493 72288493 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 11 72288493 72288493 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2761 p.E921K 0.998 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 72 0 0 86 7 7.52688 ZCCHC8 0 genome.wustl.edu 37 12 122967235 122967235 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 12 122967235 122967235 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.679 p.P227S 0.999 superfamily_Znf_CCHC pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 46 0 0 26 6 18.75 SLC38A4 0 genome.wustl.edu 37 12 47172329 47172329 + Silent SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 12 47172329 47172329 A G SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known silent c.948 p.H316 0.029 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 60 0 0 69 7 9.21053 NECAP1 0 genome.wustl.edu 37 12 8242546 8242546 + Missense_Mutation SNP A A T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 12 8242546 8242546 A T SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known missense c.110 p.K37I 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 189 0 0 149 15 9.14634 REC8 0 genome.wustl.edu 37 14 24646938 24646938 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 14 24646938 24646938 C A SNP REC8 ENST00000311457 human ensembl 74_37 +1 known missense c.835 p.R279S 0.854 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 47 0 0 48 3 5.88235 ZNF75A 0 genome.wustl.edu 37 16 3367328 3367328 + Missense_Mutation SNP T T G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 16 3367328 3367328 T G SNP ZNF75A ENST00000574298 human ensembl 74_37 +1 known missense c.350 p.F117C 0.005 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 ZNF75A HGNC ENSG00000162086 71 0 0 57 10 14.9254 PAPD5 0 genome.wustl.edu 37 16 50258847 50258847 + Silent SNP T T C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 16 50258847 50258847 T C SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known silent c.1509 p.Y503 0.123 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 210 0 0 141 21 12.963 PDP2 0 genome.wustl.edu 37 16 66918510 66918510 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 16 66918510 66918510 G A SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known missense c.323 p.R108Q 0.833 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP2 HGNC ENSG00000172840 93 0 0 65 4 5.7971 HYDIN 0 genome.wustl.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 16 71054178 71054178 T C SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.3085 p.I1029V 0.589 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 41 0 0 44 3 6.38298 FAM83G 0 genome.wustl.edu 37 17 18874692 18874692 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 17 18874692 18874692 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.2452 p.R818W 0.001 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 127 0 0 113 16 12.4031 CPAMD8 0 genome.wustl.edu 37 19 17104353 17104353 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 19 17104353 17104353 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1280 p.T427M 0.800 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 69 0 0 63 7 10 TMEM143 0 genome.wustl.edu 37 19 48836573 48836573 + Missense_Mutation SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 19 48836573 48836573 A G SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known missense c.1283 p.M428T 0.000 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 132 0 0 91 23 20.1754 ZNRF4 0 genome.wustl.edu 37 19 5456633 5456633 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 19 5456633 5456633 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.1131 p.P377 0.142 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 83 0 0 80 11 12.0879 KHSRP 0 genome.wustl.edu 37 19 6417055 6417055 + Silent SNP G G C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 19 6417055 6417055 G C SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known silent c.1125 p.P375 0.999 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 123 0 0 97 11 10.1852 RGPD3 0 genome.wustl.edu 37 2 107049684 107049684 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 2 107049684 107049684 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2263 p.E755K 0.953 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 561 0 0 508 28 5.22388 FRG1B 0 genome.wustl.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 20 29625941 29625941 A T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.185 p.D62V 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 112 1 0.884956 111 6 5.12821 SLC17A9 0 genome.wustl.edu 37 20 61598542 61598542 + RNA SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 20 61598542 61598542 C A SNP SLC17A9 ENST00000488738 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC17A9 HGNC ENSG00000101194 29 0 0 18 7 28 ARMC8 0 genome.wustl.edu 37 3 137983022 137983022 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 3 137983022 137983022 C T SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known nonsense c.1267 p.Q423* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 113 0 0 71 12 14.4578 MUC4 0 genome.wustl.edu 37 3 195512212 195512212 + Missense_Mutation SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 3 195512212 195512212 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.6239 p.P2080H 0.337 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 10 0 0 7 4 36.3636 BRD8 0 genome.wustl.edu 37 5 137485477 137485477 + Nonsense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 5 137485477 137485477 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known nonsense c.3130 p.Q1044* 0.336 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 105 0 0 84 8 8.69565 SDHA 0 genome.wustl.edu 37 5 256624 256624 + RNA SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 5 256624 256624 G A SNP SDHA ENST00000507522 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SDHA HGNC ENSG00000073578 26 0 0 20 4 16.6667 MIER3 0 genome.wustl.edu 37 5 56234714 56234714 + Missense_Mutation SNP T T A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 5 56234714 56234714 T A SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known missense c.311 p.D104V 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 123 0 0 96 12 11.1111 SPDEF 0 genome.wustl.edu 37 6 34508912 34508912 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 6 34508912 34508912 C T SNP SPDEF ENST00000374037 human ensembl 74_37 -1 known nonsense c.483 p.W161* 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPDEF HGNC ENSG00000124664 20 0 0 15 6 28.5714 TSNARE1 0 genome.wustl.edu 37 8 143425714 143425714 + Silent SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 8 143425714 143425714 G T SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known silent c.358 p.R120 0.247 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 22 0 0 23 2 8 SLC25A53 0 genome.wustl.edu 37 X 103349655 103349655 + Missense_Mutation SNP A A T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 103349655 103349655 A T SNP SLC25A53 ENST00000357421 human ensembl 74_37 -1 known missense c.286 p.F96I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 130 0 0 108 15 12.1951 AMOT 0 genome.wustl.edu 37 X 112035177 112035177 + Silent SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 112035177 112035177 C T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.1809 p.V603 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 136 0 0 129 10 7.19424 DOCK11 0 genome.wustl.edu 37 X 117810670 117810670 + Missense_Mutation SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 117810670 117810670 G T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.5430 p.E1810D 0.722 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 81 0 0 63 6 8.69565 OFD1 0 genome.wustl.edu 37 X 13753462 13753462 + Silent SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 13753462 13753462 C T SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known silent c.108 p.L36 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 65 0 0 64 6 8.57143 ZFX 0 genome.wustl.edu 37 X 24228401 24228401 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 24228401 24228401 G A SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1443 p.R481 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 169 0 0 128 19 12.9252 SLC35A2 0 genome.wustl.edu 37 X 48761971 48761971 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 48761971 48761971 C A SNP SLC35A2 ENST00000445167 human ensembl 74_37 -1 known missense c.625 p.G209W 0.606 NULL pfam_Nuc_sug_transpt - no_errors SLC35A2 HGNC ENSG00000102100 44 0 0 28 5 15.1515 MED12 0 genome.wustl.edu 37 X 70357076 70357076 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 70357076 70357076 C A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.5591 p.P1864Q 0.990 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 82 0 0 70 10 12.5 ZCCHC13 0 genome.wustl.edu 37 X 73524180 73524180 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd X 73524180 73524180 C T SNP ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known nonsense c.79 p.R27* 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 44 0 0 41 4 8.88889 HOXB5 0 genome.wustl.edu 37 17 46669686 46669687 + Frame_Shift_Ins INS - - A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 17 46669686 46669687 - A INS HOXB5 ENST00000239151 human ensembl 74_37 -1 known frame_shift_ins c.695_694 p.C232fs 1.000:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 302 0 0 243 21 7.95455 SMAD4 0 genome.wustl.edu 37 18 48591918 48591929 + In_Frame_Del DEL CGCTTTTGTTTG CGCTTTTGTTTG - TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 CGCTTTTGTTTG CGCTTTTGTTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 18 48591918 48591929 CGCTTTTGTTTG - DEL SMAD4 ENST00000342988 human ensembl 74_37 +1 known in_frame_del c.1081_1092 p.RFCL361in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 111 0 0 79 8 9.1954 SLC9A4 0 genome.wustl.edu 37 2 103130667 103130668 + Frame_Shift_Ins INS - - A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 2 103130667 103130668 - A INS SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_ins c.1678_1679 p.T561fs 0.998:1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 138 0 0 139 19 12.0253 NBEAL1 0 genome.wustl.edu 37 2 204045127 204045127 + Frame_Shift_Del DEL T T - TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 2 204045127 204045127 T - DEL NBEAL1 ENST00000449802 human ensembl 74_37 +1 known frame_shift_del c.6400 p.F2134fs 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 189 0 0 133 16 10.7383 FOXP1 0 genome.wustl.edu 37 3 71008435 71008436 + Frame_Shift_Del DEL TC TC - TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd 3 71008435 71008436 TC - DEL FOXP1 ENST00000318789 human ensembl 74_37 -1 known frame_shift_del c.1997_1996 p.D666fs 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 254 0 0 167 14 7.73481