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 KCNA3 0 genome.wustl.edu 37 1 111216794 111216794 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 111216794 111216794 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 63 0 0 31 5 13.8889 WNT2B 0 genome.wustl.edu 37 1 113058764 113058764 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 113058764 113058764 A G SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.406 p.S136G 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 71 0 0 57 12 17.3913 PTGFRN 0 genome.wustl.edu 37 1 117491914 117491914 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 117491914 117491914 C T SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.933 p.P311 0.022 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 107 0 0 114 9 7.31707 PIAS3 0 genome.wustl.edu 37 1 145584516 145584516 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 145584516 145584516 C T SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known silent c.1483 p.L495 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 139 0 0 124 9 6.76692 OTUD7B 0 genome.wustl.edu 37 1 149921651 149921651 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 149921651 149921651 T C SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.1004 p.Y335C 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 42 0 0 43 8 15.6863 ESPNP 0 genome.wustl.edu 37 1 17017717 17017717 + RNA SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 17017717 17017717 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 20 0 0 23 9 28.125 PRSS38 0 genome.wustl.edu 37 1 228003436 228003436 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 228003436 228003436 G A SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.19 p.V7I 0.002 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 20 0 0 14 6 30 MTF2 0 genome.wustl.edu 37 1 93594899 93594899 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 93594899 93594899 C T SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.1054 p.P352S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 113 0 0 95 13 12.037 LOXL4 0 genome.wustl.edu 37 10 100015439 100015439 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 100015439 100015439 G A SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known missense c.1486 p.R496C 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 45 0 0 40 4 9.09091 HPSE2 0 genome.wustl.edu 37 10 100481463 100481463 + Missense_Mutation SNP C C A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 100481463 100481463 C A SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.907 p.G303C 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 68 0 0 57 6 9.52381 CNNM2 0 genome.wustl.edu 37 10 104679833 104679833 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 104679833 104679833 C T SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known silent c.1596 p.D532 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 132 0 0 157 23 12.7778 SLK 0 genome.wustl.edu 37 10 105750529 105750529 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 105750529 105750529 T C SNP SLK ENST00000369755 human ensembl 74_37 +1 known silent c.247 p.L83 0.989 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_PKK,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_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 58 0 0 47 16 25.3968 BTBD16 0 genome.wustl.edu 37 10 124089067 124089067 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 124089067 124089067 T C SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known silent c.987 p.R329 0.603 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 44 0 0 39 5 11.3636 PPP2R2D 0 genome.wustl.edu 37 10 133761176 133761176 + Splice_Site SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 133761176 133761176 G A SNP PPP2R2D ENST00000422256 human ensembl 74_37 +1 known splice_site c.279+1 e3+1 1.000 - - - no_errors PPP2R2D HGNC ENSG00000175470 56 0 0 64 8 11.1111 ZNF248 0 genome.wustl.edu 37 10 38121178 38121178 + Missense_Mutation SNP G G T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 38121178 38121178 G T SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.1105 p.Q369K 0.421 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 ZNF248 HGNC ENSG00000198105 124 0 0 145 10 6.45161 GRID1 0 genome.wustl.edu 37 10 87407072 87407072 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 10 87407072 87407072 T C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2080 p.K694E 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 338 1 0.294985 338 37 9.86667 MYOD1 0 genome.wustl.edu 37 11 17741344 17741344 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 11 17741344 17741344 G A SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.15 p.S5 0.998 smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 44 0 0 34 4 10.5263 SHANK2 0 genome.wustl.edu 37 11 70333139 70333139 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 11 70333139 70333139 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3262 p.R1088C 0.712 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 33 0 0 25 4 13.7931 C2CD3 0 genome.wustl.edu 37 11 73789208 73789208 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 11 73789208 73789208 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.4555 p.D1519N 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 91 0 0 97 8 7.61905 CACNA1C 0 genome.wustl.edu 37 12 2706664 2706664 + Splice_Site SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 12 2706664 2706664 T C SNP CACNA1C ENST00000347598 human ensembl 74_37 +1 known splice_site c.2913+2 e22+2 1.000 - - - no_errors CACNA1C HGNC ENSG00000151067 35 0 0 35 6 14.6341 MMP19 0 genome.wustl.edu 37 12 56232293 56232293 + Missense_Mutation SNP T T G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 12 56232293 56232293 T G SNP MMP19 ENST00000394182 human ensembl 74_37 -1 known missense c.28 p.S10R 0.013 smart_Hemopexin-like_repeat pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat - no_errors MMP19 HGNC ENSG00000123342 38 0 0 36 4 10 VWF 0 genome.wustl.edu 37 12 6122735 6122735 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 12 6122735 6122735 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.5532 p.G1844 0.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 62 0 0 62 14 18.4211 HHIPL1 0 genome.wustl.edu 37 14 100135215 100135215 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 14 100135215 100135215 G A SNP HHIPL1 ENST00000357223 human ensembl 74_37 +1 known missense c.1777 p.V593M 0.012 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH - no_errors HHIPL1 HGNC ENSG00000182218 45 0 0 31 5 13.8889 SCFD1 0 genome.wustl.edu 37 14 31191756 31191756 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 14 31191756 31191756 C T SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known silent c.1827 p.D609 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 50 0 0 49 15 23.4375 NUTM1 0 genome.wustl.edu 37 15 34647250 34647250 + Missense_Mutation SNP T T G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 15 34647250 34647250 T G SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.1307 p.L436R 0.998 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 128 0 0 95 42 30.6569 ADAMTSL3 0 genome.wustl.edu 37 15 84566718 84566718 + Nonsense_Mutation SNP G G T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 15 84566718 84566718 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known nonsense c.1576 p.E526* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 103 1 0.961538 67 29 30.2083 SALL1 0 genome.wustl.edu 37 16 51175484 51175484 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 16 51175484 51175484 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.649 p.G217S 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 76 0 0 62 5 7.46269 SF3B3 0 genome.wustl.edu 37 16 70602310 70602310 + Missense_Mutation SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 16 70602310 70602310 A T SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.3077 p.D1026V 1.000 pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 61 0 0 53 4 7.01754 NPIPB15 0 genome.wustl.edu 37 16 74425446 74425446 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 16 74425446 74425446 C T SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known missense c.800 p.P267L 0.000 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 125 0 0 138 10 6.75676 UBTF 0 genome.wustl.edu 37 17 42290195 42290195 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 42290195 42290195 G A SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.652 p.R218W 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 115 0 0 114 6 5 TM4SF5 0 genome.wustl.edu 37 17 4675218 4675218 + Missense_Mutation SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 4675218 4675218 A T SNP TM4SF5 ENST00000270560 human ensembl 74_37 +1 known missense c.1 p.M1L 0.996 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 157 0 0 137 15 9.86842 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 15 0 0 24 3 11.1111 TBC1D3P2 0 genome.wustl.edu 37 17 60342197 60342197 + RNA SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 60342197 60342197 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.153 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 14 0 0 32 3 8.57143 CACNG5 0 genome.wustl.edu 37 17 64881015 64881015 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 64881015 64881015 G A SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known silent c.807 p.S269 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 43 0 0 33 16 32.6531 TP53 0 genome.wustl.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 17 7578208 7578208 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.641 p.H214R 0.999 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 45 0 0 34 12 26.087 SIGLEC7 0 genome.wustl.edu 37 19 51645712 51645712 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 19 51645712 51645712 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.86 p.T29M 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 44 0 0 26 11 29.7297 IL18RAP 0 genome.wustl.edu 37 2 103059744 103059744 + Missense_Mutation SNP C C A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 103059744 103059744 C A SNP IL18RAP ENST00000264260 human ensembl 74_37 +1 known missense c.881 p.S294Y 0.005 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL18RAP HGNC ENSG00000115607 73 0 0 88 5 5.37634 POTEE 0 genome.wustl.edu 37 2 131976213 131976213 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 131976213 131976213 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.238 p.V80M 0.001 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 245 1 0.406504 156 47 23.1527 LRP1B 0 genome.wustl.edu 37 2 141707814 141707814 + Silent SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 141707814 141707814 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.3126 p.C1042 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 21 0 0 22 7 24.1379 SCN9A 0 genome.wustl.edu 37 2 167133781 167133781 + Silent SNP T T A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 167133781 167133781 T A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.2589 p.S863 0.058 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 152 0 0 146 22 13.0952 ITGA4 0 genome.wustl.edu 37 2 182360534 182360534 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 182360534 182360534 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.1410 p.D470 0.880 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 77 0 0 74 14 15.9091 PMS1 0 genome.wustl.edu 37 2 190660534 190660534 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 190660534 190660534 G A SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.172 p.G58R 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 61 0 0 70 15 17.6471 ABCA12 0 genome.wustl.edu 37 2 215884380 215884380 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 215884380 215884380 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.1428 p.A476 0.963 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 57 0 0 45 12 21.0526 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48848413 48848413 + Silent SNP A A T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 48848413 48848413 A T SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.2343 p.T781 0.024 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 63 0 0 59 7 10.6061 BCL11A 0 genome.wustl.edu 37 2 60688090 60688090 + Missense_Mutation SNP C C G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 60688090 60688090 C G SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1957 p.E653Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 45 0 0 32 3 8.57143 TSGA10 0 genome.wustl.edu 37 2 99725896 99725896 + Nonsense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 2 99725896 99725896 G A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known nonsense c.7 p.R3* 0.986 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 73 0 0 77 9 10.4651 PYGB 0 genome.wustl.edu 37 20 25252030 25252030 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 20 25252030 25252030 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.436 p.D146N 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 102 0 0 116 34 22.6667 L3MBTL1 0 genome.wustl.edu 37 20 42169439 42169439 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 20 42169439 42169439 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.2312 p.R771H 0.988 superfamily_SAM/pointed pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 53 0 0 42 10 19.2308 ADARB1 0 genome.wustl.edu 37 21 46596225 46596225 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 21 46596225 46596225 C T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known silent c.609 p.S203 0.002 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 40 0 0 23 4 14.8148 CD96 0 genome.wustl.edu 37 3 111264125 111264125 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 111264125 111264125 G A SNP CD96 ENST00000283285 human ensembl 74_37 +1 known silent c.294 p.G98 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 74 0 0 66 6 8.33333 CCDC80 0 genome.wustl.edu 37 3 112356885 112356885 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 112356885 112356885 C T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1868 p.R623Q 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 132 1 0.75188 88 26 22.807 PLS1 0 genome.wustl.edu 37 3 142416830 142416830 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 142416830 142416830 A G SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.1292 p.Y431C 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 89 0 0 97 12 11.0092 PSMD2 0 genome.wustl.edu 37 3 184019833 184019833 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 184019833 184019833 T C SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known silent c.678 p.Y226 0.574 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 89 0 0 97 6 5.82524 LINC00969 0 genome.wustl.edu 37 3 195410627 195410627 + RNA SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 195410627 195410627 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 30 0 0 31 5 13.8889 LINC00969 0 genome.wustl.edu 37 3 195410640 195410640 + RNA SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 195410640 195410640 T C SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors LINC00969 HGNC ENSG00000242086 31 0 0 29 6 17.1429 MUC4 0 genome.wustl.edu 37 3 195506914 195506914 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 195506914 195506914 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11537 p.P3846L 0.309 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 16 0 0 9 4 30.7692 MUC4 0 genome.wustl.edu 37 3 195509388 195509388 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 195509388 195509388 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.9063 p.H3021 0.852 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 52 0 0 71 4 5.33333 MUC4 0 genome.wustl.edu 37 3 195509402 195509402 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 195509402 195509402 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.9049 p.I3017V 0.962 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 61 0 0 67 4 5.6338 PIGZ 0 genome.wustl.edu 37 3 196675340 196675340 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 3 196675340 196675340 G A SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.428 p.A143V 0.006 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 24 0 0 17 5 22.7273 TIGD2 0 genome.wustl.edu 37 4 90034294 90034294 + Missense_Mutation SNP A A G TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 4 90034294 90034294 A G SNP TIGD2 ENST00000317005 human ensembl 74_37 +1 known missense c.169 p.N57D 0.945 superfamily_Homeodomain-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 111 0 0 85 21 19.8113 FAM13B 0 genome.wustl.edu 37 5 137292190 137292190 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 5 137292190 137292190 T C SNP FAM13B ENST00000425075 human ensembl 74_37 -1 known missense c.1129 p.M377V 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 20 0 0 15 3 16.6667 ETF1 0 genome.wustl.edu 37 5 137844018 137844018 + Silent SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 5 137844018 137844018 T C SNP ETF1 ENST00000360541 human ensembl 74_37 -1 known silent c.1290 p.E430 1.000 NULL pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 31 0 0 43 4 8.51064 STK10 0 genome.wustl.edu 37 5 171523475 171523475 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 5 171523475 171523475 G A SNP STK10 ENST00000176763 human ensembl 74_37 -1 known silent c.960 p.D320 0.937 superfamily_Kinase-like_dom pfam_PKK,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 - no_errors STK10 HGNC ENSG00000072786 86 0 0 61 9 12.8571 GPR98 0 genome.wustl.edu 37 5 90074406 90074406 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 5 90074406 90074406 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.12829 p.R4277* 0.229 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 51 0 0 29 12 29.2683 MICAL1 0 genome.wustl.edu 37 6 109775345 109775345 + Nonsense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 6 109775345 109775345 G A SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known nonsense c.112 p.Q38* 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 12 0 0 10 2 16.6667 HIST1H2AD 0 genome.wustl.edu 37 6 26199399 26199399 + Nonsense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 6 26199399 26199399 G A SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known nonsense c.73 p.Q25* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 37 0 0 17 3 15 CDYL 0 genome.wustl.edu 37 6 4892004 4892004 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 6 4892004 4892004 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.244 p.R82W 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 54 0 0 60 31 34.0659 TPBG 0 genome.wustl.edu 37 6 83075655 83075655 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 6 83075655 83075655 C T SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.977 p.P326L 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 95 0 0 119 9 7.03125 RBM28 0 genome.wustl.edu 37 7 127978360 127978360 + Missense_Mutation SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 7 127978360 127978360 T C SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known missense c.485 p.K162R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 58 0 0 52 23 30.6667 NPY 0 genome.wustl.edu 37 7 24325011 24325011 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 7 24325011 24325011 C T SNP NPY ENST00000242152 human ensembl 74_37 +1 known missense c.152 p.A51V 1.000 pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors NPY HGNC ENSG00000122585 36 0 0 19 6 24 BUD31 0 genome.wustl.edu 37 7 99015162 99015162 + Missense_Mutation SNP G G C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 7 99015162 99015162 G C SNP BUD31 ENST00000222969 human ensembl 74_37 +1 known missense c.328 p.D110H 1.000 pfam_G10,prints_G10 pfam_G10,prints_G10 - no_errors BUD31 HGNC ENSG00000106245 71 0 0 68 7 9.33333 DCAF13 0 genome.wustl.edu 37 8 104452417 104452417 + Missense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 8 104452417 104452417 C T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.1460 p.S487F 0.952 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 116 0 0 139 10 6.71141 NEIL2 0 genome.wustl.edu 37 8 11643642 11643642 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 8 11643642 11643642 C T SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known nonsense c.859 p.Q287* 1.000 pfscan_Znf_DNA_glyclase/AP_lyase pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 50 0 0 292 25 7.88644 BRF2 0 genome.wustl.edu 37 8 37702081 37702081 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 8 37702081 37702081 G A SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known missense c.1187 p.P396L 0.984 NULL pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 43 0 0 32 3 8.57143 ZNF704 0 genome.wustl.edu 37 8 81553643 81553643 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 8 81553643 81553643 G A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.1197 p.T399 0.119 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 25 0 0 35 5 12.5 FCN1 0 genome.wustl.edu 37 9 137805455 137805455 + Silent SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 9 137805455 137805455 G A SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known silent c.312 p.D104 0.000 pfam_Collagen pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 20 0 0 18 4 18.1818 IFNB1 0 genome.wustl.edu 37 9 21077680 21077680 + Silent SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 9 21077680 21077680 C T SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known silent c.189 p.E63 0.846 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 74 0 0 83 12 12.6316 TEK 0 genome.wustl.edu 37 9 27158095 27158095 + Nonsense_Mutation SNP C C T TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 9 27158095 27158095 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known nonsense c.319 p.R107* 1.000 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 110 0 0 106 10 8.62069 DCAF12 0 genome.wustl.edu 37 9 34089583 34089583 + Missense_Mutation SNP G G A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 9 34089583 34089583 G A SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.1030 p.R344W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 44 0 0 42 7 14.2857 LOC100996870 0 genome.wustl.edu 37 9 66468632 66468632 + RNA SNP T T C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 9 66468632 66468632 T C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 19 0 0 15 3 16.6667 MAGEC1 0 genome.wustl.edu 37 X 140996328 140996328 + Missense_Mutation SNP A A C TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b X 140996328 140996328 A C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3138 p.K1046N 0.031 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 156 0 0 126 19 13.1034 PRRX1 0 genome.wustl.edu 37 1 170688997 170688997 + Frame_Shift_Del DEL A A - TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 1 170688997 170688997 A - DEL PRRX1 ENST00000239461 human ensembl 74_37 +1 known frame_shift_del c.372 p.E125fs 0.892 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 73 0 0 68 18 20.9302 DOK5 0 genome.wustl.edu 37 20 53171572 53171574 + In_Frame_Del DEL ATC ATC - TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 20 53171572 53171574 ATC - DEL DOK5 ENST00000262593 human ensembl 74_37 +1 known in_frame_del c.167_169 p.H57in_frame_del 1.000:0.988:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 66 0 0 77 8 9.41176 ENSG00000254160 0 genome.wustl.edu 37 8 1197072 1197073 + RNA INS - - A TCGA-BR-4255-01A-01D-1126-08 TCGA-BR-4255-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5c499388-9598-428d-a9b1-1808ce877345 f818c68d-6465-4ea9-a617-1e95a6b5ad0b 8 1197072 1197073 - A INS ENSG00000254160 ENST00000517950 human ensembl 74_37 -1 known rna NULL NULL 0.945:0.955 - - - no_errors CTD-2281E23.3 Clone_based_vega_gene ENSG00000254160 23 0 0 18 4 18.1818