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 ASTN1 0 genome.wustl.edu 37 1 176838101 176838101 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 176838101 176838101 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3550 p.A1184T 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 84 0 0 103 7 6.36364 SIPA1L2 0 genome.wustl.edu 37 1 232551275 232551275 + Missense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 232551275 232551275 C A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4727 p.W1576L 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 103 0 0 118 11 8.52713 RGS7 0 genome.wustl.edu 37 1 240975337 240975337 + Missense_Mutation SNP T T G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 240975337 240975337 T G SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.963 p.E321D 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 100 1 0.990099 98 7 6.66667 OR2M5 0 genome.wustl.edu 37 1 248308867 248308867 + Missense_Mutation SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 248308867 248308867 A G SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.418 p.I140V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 404 0 0 385 31 7.45192 CHD5 0 genome.wustl.edu 37 1 6209393 6209393 + Silent SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 6209393 6209393 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.1074 p.C358 0.902 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,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 CHD5 HGNC ENSG00000116254 39 0 0 57 7 10.9375 HIF1AN 0 genome.wustl.edu 37 10 102305759 102305759 + Silent SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 10 102305759 102305759 C T SNP HIF1AN ENST00000299163 human ensembl 74_37 +1 known silent c.783 p.Y261 0.999 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 184 1 0.540541 136 12 8.10811 PCDH15 0 genome.wustl.edu 37 10 55582245 55582245 + Silent SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 10 55582245 55582245 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.5241 p.L1747 0.067 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 18 0 0 18 3 14.2857 OR10S1 0 genome.wustl.edu 37 11 123848029 123848029 + Missense_Mutation SNP T T C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 11 123848029 123848029 T C SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.370 p.T124A 0.079 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 43 0 0 61 4 6.15385 OR5AS1 0 genome.wustl.edu 37 11 55798495 55798495 + Missense_Mutation SNP G G T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 11 55798495 55798495 G T SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.601 p.A201S 0.151 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 311 0 0 295 21 6.64557 CHFR 0 genome.wustl.edu 37 12 133435715 133435715 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 12 133435715 133435715 C G SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.886 p.D296H 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 70 0 0 76 10 11.6279 BRCA2 0 genome.wustl.edu 37 13 32911853 32911853 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 13 32911853 32911853 T A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.3361 p.S1121T 1.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 80 0 0 55 5 8.33333 BRCA2 0 genome.wustl.edu 37 13 32911967 32911967 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 13 32911967 32911967 T A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.3475 p.C1159S 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 114 0 0 96 7 6.79612 OCA2 0 genome.wustl.edu 37 15 28228574 28228574 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 15 28228574 28228574 A C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1420 p.F474V 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 78 0 0 97 8 7.61905 ABCC12 0 genome.wustl.edu 37 16 48149471 48149471 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 16 48149471 48149471 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.1844 p.R615H 0.987 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 69 0 0 77 7 8.33333 CDH8 0 genome.wustl.edu 37 16 61687741 61687741 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 16 61687741 61687741 A C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2171 p.F724C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 140 0 0 97 7 6.73077 MYH4 0 genome.wustl.edu 37 17 10368833 10368833 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 10368833 10368833 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.431 p.R144Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 188 0 0 208 20 8.77193 SREBF1 0 genome.wustl.edu 37 17 17726908 17726908 + Silent SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 17726908 17726908 C G SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known silent c.105 p.A35 0.250 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 70 0 0 64 11 14.6667 TBC1D3F 0 genome.wustl.edu 37 17 36293029 36293029 + Missense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 36293029 36293029 C A SNP TBC1D3F ENST00000327454 human ensembl 74_37 +1 known missense c.1060 p.Q354K 0.919 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3F HGNC ENSG00000185128 15 0 0 7 3 30 KRTAP4-11 0 genome.wustl.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 39274087 39274087 G C SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.481 p.L161V 0.005 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 16 0 0 21 4 16 KRTAP9-9 0 genome.wustl.edu 37 17 39412077 39412077 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 39412077 39412077 C G SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known missense c.440 p.T147S 0.101 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 225 0 0 282 27 8.73786 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 74 0 0 62 5 7.46269 FECH 0 genome.wustl.edu 37 18 55247314 55247314 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 18 55247314 55247314 G A SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.185 p.P62L 0.423 NULL pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 126 0 0 121 10 7.63359 CLUL1 0 genome.wustl.edu 37 18 644941 644941 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 18 644941 644941 C T SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.1241 p.S414F 0.003 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 65 0 0 41 5 10.8696 ZNF99 0 genome.wustl.edu 37 19 22940942 22940942 + Missense_Mutation SNP T T C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 22940942 22940942 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1496 p.E499G 1.000 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 ZNF99 HGNC ENSG00000213973 58 0 0 34 5 12.8205 UQCRFS1 0 genome.wustl.edu 37 19 29698482 29698482 + Silent SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 29698482 29698482 G A SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.798 p.T266 0.961 superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 64 0 0 50 3 5.66038 PSG2 0 genome.wustl.edu 37 19 43575896 43575896 + Missense_Mutation SNP G G C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 43575896 43575896 G C SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.920 p.A307G 0.055 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 280 0 0 342 30 8.06452 BIRC8 0 genome.wustl.edu 37 19 53793015 53793015 + Nonsense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 53793015 53793015 C A SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known nonsense c.613 p.G205* 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 109 0 0 94 5 5.05051 DPRX 0 genome.wustl.edu 37 19 54140031 54140031 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 54140031 54140031 C T SNP DPRX ENST00000376650 human ensembl 74_37 +1 known missense c.365 p.T122M 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DPRX HGNC ENSG00000204595 134 0 0 148 11 6.91824 ZNF274 0 genome.wustl.edu 37 19 58697083 58697083 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 58697083 58697083 C G SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.38 p.P13R 1.000 superfamily_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 103 0 0 138 8 5.47945 MUC16 0 genome.wustl.edu 37 19 9091701 9091701 + Silent SNP G G T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 9091701 9091701 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 62 0 0 63 4 5.97015 MUC16 0 genome.wustl.edu 37 19 9091702 9091702 + Missense_Mutation SNP G G T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 19 9091702 9091702 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.113 p.T38N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 61 0 0 61 4 6.15385 PXDN 0 genome.wustl.edu 37 2 1677547 1677547 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 2 1677547 1677547 A C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.886 p.L296V 0.617 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 102 0 0 114 13 10.2362 HOXD3 0 genome.wustl.edu 37 2 177036736 177036736 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 2 177036736 177036736 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known missense c.1033 p.G345S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 23 0 0 30 3 9.09091 OBSL1 0 genome.wustl.edu 37 2 220432469 220432469 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 2 220432469 220432469 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1505 p.S502F 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 82 0 0 70 5 6.66667 KCNIP3 0 genome.wustl.edu 37 2 96040939 96040939 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 2 96040939 96040939 G A SNP KCNIP3 ENST00000295225 human ensembl 74_37 +1 known missense c.430 p.G144R 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 87 0 0 103 10 8.84956 SNPH 0 genome.wustl.edu 37 20 1277044 1277044 + Missense_Mutation SNP G G C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 20 1277044 1277044 G C SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.161 p.R54P 0.994 NULL NULL - no_errors SNPH HGNC ENSG00000101298 54 0 0 58 4 6.45161 GGTLC1 0 genome.wustl.edu 37 20 23967072 23967072 + Splice_Site SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 20 23967072 23967072 C T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known splice_site c.176+1 e1+1 1.000 - - - no_errors GGTLC1 HGNC ENSG00000149435 40 0 0 36 5 12.1951 KRTAP21-2 0 genome.wustl.edu 37 21 32119459 32119459 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 21 32119459 32119459 G A SNP KRTAP21-2 ENST00000333892 human ensembl 74_37 -1 known missense c.62 p.S21F 0.007 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP21-2 HGNC ENSG00000187026 124 0 0 100 7 6.54206 CBR1 0 genome.wustl.edu 37 21 37444696 37444696 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 21 37444696 37444696 C T SNP CBR1 ENST00000399191 human ensembl 74_37 +1 putative missense c.622 p.R208W 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors CBR1 HGNC ENSG00000159228 51 0 0 50 3 5.66038 ENSG00000161103 0 genome.wustl.edu 37 22 18845962 18845962 + RNA SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 22 18845962 18845962 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 11 0 0 14 5 26.3158 SEZ6L 0 genome.wustl.edu 37 22 26688542 26688542 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 22 26688542 26688542 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.265 p.A89T 0.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 41 0 0 43 3 6.52174 DPPA4 0 genome.wustl.edu 37 3 109047878 109047878 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 109047878 109047878 A C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.737 p.V246G 0.997 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 57 0 0 55 3 5.17241 NMNAT3 0 genome.wustl.edu 37 3 139346557 139346557 + Nonsense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 139346557 139346557 G A SNP NMNAT3 ENST00000296202 human ensembl 74_37 -1 known nonsense c.10 p.R4* 0.962 NULL pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC ENSG00000163864 31 0 0 31 3 8.82353 DHX36 0 genome.wustl.edu 37 3 154010343 154010343 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 154010343 154010343 C T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1811 p.G604E 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 229 0 0 202 16 7.33945 FNDC3B 0 genome.wustl.edu 37 3 172055153 172055153 + Missense_Mutation SNP T T G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 172055153 172055153 T G SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.1814 p.L605R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 91 0 0 43 4 8.51064 ALAS1 0 genome.wustl.edu 37 3 52236731 52236731 + Silent SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 52236731 52236731 A G SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known silent c.408 p.E136 0.999 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 43 0 0 37 3 7.5 OR5K1 0 genome.wustl.edu 37 3 98188977 98188977 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 3 98188977 98188977 G A SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.557 p.R186K 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K1 HGNC ENSG00000232382 230 0 0 163 17 9.44444 WHSC1 0 genome.wustl.edu 37 4 1978261 1978261 + Silent SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 4 1978261 1978261 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.3681 p.R1227 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 17 0 0 20 3 13.0435 GPRC6A 0 genome.wustl.edu 37 6 117113951 117113951 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 6 117113951 117113951 G A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2135 p.T712M 0.985 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 57 0 0 75 4 5.06329 LATS1 0 genome.wustl.edu 37 6 150001244 150001244 + Missense_Mutation SNP C C G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 6 150001244 150001244 C G SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.2360 p.G787A 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 159 0 0 95 11 10.3774 CHRM2 0 genome.wustl.edu 37 7 136701002 136701002 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 7 136701002 136701002 G A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.1390 p.A464T 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 88 0 0 73 7 8.75 RP1L1 0 genome.wustl.edu 37 8 10467031 10467031 + Missense_Mutation SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 8 10467031 10467031 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4577 p.T1526M 0.894 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 87 0 0 88 6 6.38298 CSMD3 0 genome.wustl.edu 37 8 113960100 113960100 + Missense_Mutation SNP T T A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 8 113960100 113960100 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1427 p.E476V 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 51 0 0 48 6 11.1111 ZFAT 0 genome.wustl.edu 37 8 135669925 135669925 + Silent SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 8 135669925 135669925 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known silent c.75 p.S25 0.974 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 51 0 0 65 4 5.7971 PSD3 0 genome.wustl.edu 37 8 18725257 18725257 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 8 18725257 18725257 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.1561 p.V521I 0.031 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 161 0 0 153 14 8.38323 UNC5D 0 genome.wustl.edu 37 8 35542177 35542177 + Missense_Mutation SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 8 35542177 35542177 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.829 p.R277W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 145 0 0 151 10 6.21118 SEC16A 0 genome.wustl.edu 37 9 139368957 139368957 + Silent SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 9 139368957 139368957 A C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.3111 p.L1037 0.010 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 40 0 0 29 4 12.1212 KIAA2026 0 genome.wustl.edu 37 9 6007500 6007500 + Silent SNP G G A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 9 6007500 6007500 G A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.288 p.G96 0.997 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 46 0 0 40 6 13.0435 NRK 0 genome.wustl.edu 37 X 105178264 105178264 + Silent SNP A A G TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 X 105178264 105178264 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.3330 p.G1110 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 39 0 0 34 6 15 DCAF12L2 0 genome.wustl.edu 37 X 125299770 125299770 + Silent SNP C C T TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 X 125299770 125299770 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.138 p.A46 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 27 0 0 34 4 10.5263 MAGEC1 0 genome.wustl.edu 37 X 140995303 140995303 + Missense_Mutation SNP C C A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 X 140995303 140995303 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2113 p.L705M 0.068 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 104 0 0 97 18 15.6522 PCDH11X 0 genome.wustl.edu 37 X 91134131 91134131 + Missense_Mutation SNP A A C TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 X 91134131 91134131 A C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.2892 p.Q964H 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 128 0 0 152 29 16.0221 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 20 0 0 31 5 13.8889 DMXL2 0 genome.wustl.edu 37 15 51857322 51857323 + Frame_Shift_Ins INS - - A TCGA-BR-8384-01A-21D-2394-08 TCGA-BR-8384-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67e2a6ef-86ba-44b7-8e27-caa5d939abc9 f3204691-0a34-4064-90ce-8fa32a8e43c4 15 51857322 51857323 - A INS DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_ins c.327_326 p.L109fs 1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 39 0 0 29 3 9.375