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 KIF1B 0 genome.wustl.edu 37 1 10318557 10318557 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 10318557 10318557 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.190 p.D64N 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 139 1 0.714286 55 11 16.6667 CLCC1 0 genome.wustl.edu 37 1 109484090 109484090 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 109484090 109484090 C T SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.733 p.A245T 1.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 153 0 0 44 9 16.9811 GSTM3 0 genome.wustl.edu 37 1 110280306 110280306 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 110280306 110280306 C T SNP GSTM3 ENST00000256594 human ensembl 74_37 -1 known missense c.440 p.G147E 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,prints_GST_mu pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM3 HGNC ENSG00000134202 320 0 0 155 24 13.4078 DENND2C 0 genome.wustl.edu 37 1 115142883 115142883 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 115142883 115142883 G A SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2047 p.R683W 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 124 0 0 58 15 20.5479 PTCHD2 0 genome.wustl.edu 37 1 11579854 11579854 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 11579854 11579854 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2117 p.R706H 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 183 0 0 75 12 13.7931 IGSF3 0 genome.wustl.edu 37 1 117156549 117156549 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 117156549 117156549 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.670 p.L224 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 94 0 0 29 7 19.4444 FBXO44 0 genome.wustl.edu 37 1 11718602 11718602 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 11718602 11718602 G A SNP FBXO44 ENST00000376768 human ensembl 74_37 +1 novel missense c.376 p.V126I 1.000 NULL pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_F-box_dom,superfamily_Galactose-bd-like,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO44 HGNC ENSG00000132879 61 0 0 30 14 31.8182 CD101 0 genome.wustl.edu 37 1 117559831 117559831 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 117559831 117559831 A G SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1348 p.I450V 0.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 92 0 0 40 7 14.8936 MTHFR 0 genome.wustl.edu 37 1 11861411 11861411 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 11861411 11861411 G T SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known silent c.405 p.T135 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 113 0 0 52 3 5.45455 HIST2H2BA 0 genome.wustl.edu 37 1 120906302 120906302 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 120906302 120906302 G A SNP HIST2H2BA ENST00000430394 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BA HGNC ENSG00000223345 180 0 0 59 11 15.7143 VPS13D 0 genome.wustl.edu 37 1 12405567 12405567 + Splice_Site SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 12405567 12405567 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known splice_site c.9021+1 e42+1 1.000 - - - no_errors VPS13D HGNC ENSG00000048707 193 0 0 58 20 25.641 MXRA8 0 genome.wustl.edu 37 1 1289837 1289837 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 1289837 1289837 G A SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known silent c.1002 p.S334 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 98 0 0 45 6 11.7647 CCNL2 0 genome.wustl.edu 37 1 1328774 1328774 + Splice_Site SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 1328774 1328774 A G SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known splice_site c.659+2 e5+2 1.000 - - - no_errors CCNL2 HGNC ENSG00000221978 156 0 0 82 13 13.6842 PRDM2 0 genome.wustl.edu 37 1 14105136 14105136 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 14105136 14105136 A T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.846 p.E282D 0.965 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 82 0 0 38 7 15.5556 CA14 0 genome.wustl.edu 37 1 150234016 150234016 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 150234016 150234016 C T SNP CA14 ENST00000369111 human ensembl 74_37 +1 known silent c.235 p.L79 0.996 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 71 0 0 28 11 28.2051 SEMA6C 0 genome.wustl.edu 37 1 151106915 151106915 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 151106915 151106915 G T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.1721 p.A574D 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 21 0 0 6 6 50 SEMA6C 0 genome.wustl.edu 37 1 151108068 151108068 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 151108068 151108068 G A SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.1432 p.R478W 0.424 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 192 0 0 92 21 18.5841 LINGO4 0 genome.wustl.edu 37 1 151773687 151773687 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 151773687 151773687 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known nonsense c.1494 p.W498* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 386 0 0 159 29 15.4255 TCHH 0 genome.wustl.edu 37 1 152080052 152080052 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 152080052 152080052 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5641 p.R1881W 0.994 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 240 0 0 75 23 23.4694 FLG 0 genome.wustl.edu 37 1 152276179 152276179 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 152276179 152276179 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11183 p.G3728V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 562 0 0 231 54 18.9474 FLG 0 genome.wustl.edu 37 1 152277587 152277587 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 152277587 152277587 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9775 p.E3259K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 645 2 0.309119 291 82 21.9839 LCE1C 0 genome.wustl.edu 37 1 152777656 152777656 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 152777656 152777656 G A SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known missense c.299 p.S100L 0.128 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 167 0 0 59 16 21.3333 S100A7A 0 genome.wustl.edu 37 1 153390574 153390574 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 153390574 153390574 G T SNP S100A7A ENST00000329256 human ensembl 74_37 +1 known missense c.16 p.A6S 0.082 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7A HGNC ENSG00000184330 241 0 0 100 13 11.5044 S100A6 0 genome.wustl.edu 37 1 153507253 153507253 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 153507253 153507253 C A SNP S100A6 ENST00000368719 human ensembl 74_37 -1 known missense c.192 p.K64N 0.872 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100A6 HGNC ENSG00000197956 139 0 0 73 5 6.41026 DENND4B 0 genome.wustl.edu 37 1 153907390 153907390 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 153907390 153907390 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known silent c.2619 p.R873 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 277 0 0 111 12 9.7561 NUP210L 0 genome.wustl.edu 37 1 154125250 154125250 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 154125250 154125250 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.302 p.P101L 0.976 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 127 0 0 47 10 17.5439 PYGO2 0 genome.wustl.edu 37 1 154931946 154931946 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 154931946 154931946 G T SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.530 p.P177H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 152 0 0 34 12 26.087 SHC1 0 genome.wustl.edu 37 1 154942610 154942610 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 154942610 154942610 G A SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known silent c.393 p.G131 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 100 0 0 61 10 14.0845 CLK2 0 genome.wustl.edu 37 1 155233104 155233104 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 155233104 155233104 T C SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1405 p.T469A 1.000 pfam_Prot_kinase_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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK2 HGNC ENSG00000176444 75 0 0 41 5 10.8696 ARHGEF2 0 genome.wustl.edu 37 1 155920171 155920171 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 155920171 155920171 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.2809 p.R937W 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 134 0 0 58 13 18.3099 BCAN 0 genome.wustl.edu 37 1 156622678 156622678 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 156622678 156622678 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.1936 p.A646T 1.000 pfscan_EG-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 159 0 0 59 10 14.4928 HDGF 0 genome.wustl.edu 37 1 156714905 156714905 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 156714905 156714905 G A SNP HDGF ENST00000368206 human ensembl 74_37 -1 known silent c.246 p.Y82 0.999 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 91 0 0 40 9 18.3673 PEAR1 0 genome.wustl.edu 37 1 156883234 156883234 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 156883234 156883234 G A SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.2563 p.A855T 0.988 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 102 0 0 36 6 14.2857 OR10Z1 0 genome.wustl.edu 37 1 158577123 158577123 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 158577123 158577123 A G SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.895 p.T299A 0.009 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 371 0 0 155 24 13.4078 SPTA1 0 genome.wustl.edu 37 1 158651438 158651438 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 158651438 158651438 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.410 p.R137H 0.003 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 137 0 0 89 11 11 ARHGAP30 0 genome.wustl.edu 37 1 161018315 161018315 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 161018315 161018315 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.2496 p.G832 0.055 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 308 0 0 95 24 20.1681 PPOX 0 genome.wustl.edu 37 1 161140372 161140372 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 161140372 161140372 G A SNP PPOX ENST00000466452 human ensembl 74_37 +1 known rna NULL NULL 0.225 - - - no_errors PPOX HGNC ENSG00000143224 161 0 0 80 18 18.3673 ADAMTS4 0 genome.wustl.edu 37 1 161166501 161166501 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 161166501 161166501 C T SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known missense c.803 p.R268Q 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 211 0 0 80 25 23.8095 C1orf111 0 genome.wustl.edu 37 1 162344047 162344047 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 162344047 162344047 G T SNP C1orf111 ENST00000367935 human ensembl 74_37 -1 known missense c.577 p.P193T 1.000 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 304 0 0 131 34 20.6061 SPEN 0 genome.wustl.edu 37 1 16259385 16259385 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 16259385 16259385 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.6650 p.A2217V 0.998 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 180 0 0 72 11 13.253 PBX1 0 genome.wustl.edu 37 1 164776856 164776856 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 164776856 164776856 A G SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.779 p.Y260C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 319 1 0.3125 95 17 15.1786 POGK 0 genome.wustl.edu 37 1 166819281 166819281 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 166819281 166819281 A G SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.1465 p.N489D 0.998 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 61 0 0 49 4 7.54717 NME7 0 genome.wustl.edu 37 1 169337064 169337064 + RNA SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 169337064 169337064 T C SNP NME7 ENST00000485609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NME7 HGNC ENSG00000143156 30 0 0 16 10 38.4615 PRRC2C 0 genome.wustl.edu 37 1 171494056 171494056 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 171494056 171494056 A G SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.1152 p.Q384 0.646 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 38 0 0 14 3 17.6471 PIGC 0 genome.wustl.edu 37 1 172411799 172411799 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 172411799 172411799 G A SNP PIGC ENST00000478184 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIGC HGNC ENSG00000135845 136 1 0.729927 61 16 20.7792 PADI3 0 genome.wustl.edu 37 1 17601227 17601227 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 17601227 17601227 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.1253 p.A418V 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 85 0 0 16 3 15.7895 PADI3 0 genome.wustl.edu 37 1 17609502 17609502 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 17609502 17609502 T C SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.1923 p.H641 0.870 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 99 0 0 38 6 13.6364 PADI6 0 genome.wustl.edu 37 1 17727905 17727905 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 17727905 17727905 G A SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PADI6 HGNC ENSG00000256049 57 0 0 21 5 19.2308 RASAL2 0 genome.wustl.edu 37 1 178063757 178063757 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 178063757 178063757 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.130 p.V44I 1.000 NULL pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 51 0 0 14 4 22.2222 ZNF648 0 genome.wustl.edu 37 1 182025680 182025680 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 182025680 182025680 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.1466 p.S489L 0.776 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 43 0 0 21 3 12.5 SHCBP1L 0 genome.wustl.edu 37 1 182869270 182869270 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 182869270 182869270 C T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.1810 p.V604I 0.976 superfamily_Pectin_lyase_fold/virulence superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 26 0 0 25 7 21.875 TPR 0 genome.wustl.edu 37 1 186328998 186328998 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 186328998 186328998 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.1322 p.R441H 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 123 0 0 53 14 20.8955 BRINP3 0 genome.wustl.edu 37 1 190068096 190068096 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 190068096 190068096 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1353 p.T451 0.955 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 116 0 0 66 10 13.1579 UBR4 0 genome.wustl.edu 37 1 19467976 19467976 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 19467976 19467976 C A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8353 p.G2785C 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 104 0 0 51 10 16.3934 UBR4 0 genome.wustl.edu 37 1 19488197 19488197 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 19488197 19488197 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.5061 p.G1687 0.982 superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 78 0 0 37 5 11.9048 PQLC2 0 genome.wustl.edu 37 1 19652849 19652849 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 19652849 19652849 C T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.493 p.R165W 0.059 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 47 0 0 10 3 23.0769 CFHR3 0 genome.wustl.edu 37 1 196749098 196749098 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 196749098 196749098 G A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.425 p.R142H 0.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 127 0 0 71 5 6.57895 ASPM 0 genome.wustl.edu 37 1 197093329 197093329 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 197093329 197093329 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3301 p.R1101G 0.020 superfamily_CH-domain,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 68 0 0 56 11 16.4179 ASPM 0 genome.wustl.edu 37 1 197108943 197108943 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 197108943 197108943 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.1980 p.I660 0.979 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 195 0 0 71 18 20.2247 KIF21B 0 genome.wustl.edu 37 1 200944791 200944791 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 200944791 200944791 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.4450 p.E1484K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 39 0 0 32 8 20 IPO9 0 genome.wustl.edu 37 1 201840319 201840319 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 201840319 201840319 C T SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.2440 p.H814Y 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 217 0 0 99 19 16.1017 SYT2 0 genome.wustl.edu 37 1 202568475 202568475 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 202568475 202568475 C T SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known silent c.924 p.P308 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 229 0 0 79 8 9.1954 PIK3C2B 0 genome.wustl.edu 37 1 204403573 204403573 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 204403573 204403573 A G SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.3680 p.I1227T 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 41 0 0 16 4 20 PIK3C2B 0 genome.wustl.edu 37 1 204419075 204419075 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 204419075 204419075 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.2137 p.P713S 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 40 0 0 12 4 25 YOD1 0 genome.wustl.edu 37 1 207222856 207222856 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 207222856 207222856 T C SNP YOD1 ENST00000315927 human ensembl 74_37 -1 known missense c.556 p.I186V 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 123 0 0 81 19 19 CR2 0 genome.wustl.edu 37 1 207646356 207646356 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 207646356 207646356 C T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.1810 p.H604Y 0.002 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 84 0 0 38 9 19.1489 CR1 0 genome.wustl.edu 37 1 207748941 207748941 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 207748941 207748941 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.4453 p.H1485Y 0.673 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 305 0 0 144 31 17.7143 CD46 0 genome.wustl.edu 37 1 207940426 207940426 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 207940426 207940426 T C SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.742 p.Y248H 0.512 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 113 0 0 55 5 8.33333 PLXNA2 0 genome.wustl.edu 37 1 208219401 208219401 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 208219401 208219401 T C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.3317 p.Y1106C 1.000 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 106 0 0 43 10 18.8679 HP1BP3 0 genome.wustl.edu 37 1 21097459 21097459 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 21097459 21097459 T C SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known silent c.618 p.A206 0.986 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 106 0 0 50 10 16.6667 RPS6KC1 0 genome.wustl.edu 37 1 213403856 213403856 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 213403856 213403856 A G SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1061 p.D354G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 75 0 0 43 7 14 USH2A 0 genome.wustl.edu 37 1 215844335 215844335 + Silent SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 215844335 215844335 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.14112 p.P4704 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 240 0 0 98 12 10.9091 USH2A 0 genome.wustl.edu 37 1 216419954 216419954 + Nonsense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 216419954 216419954 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known nonsense c.2782 p.G928* 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 223 0 0 104 6 5.45455 USH2A 0 genome.wustl.edu 37 1 216420288 216420288 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 216420288 216420288 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.2448 p.I816 0.005 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 138 0 0 73 4 5.19481 SPATA17 0 genome.wustl.edu 37 1 217955552 217955552 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 217955552 217955552 C T SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.760 p.R254C 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 120 0 0 38 7 15.5556 LDLRAD2 0 genome.wustl.edu 37 1 22140919 22140919 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 22140919 22140919 G A SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known silent c.114 p.T38 0.788 superfamily_CUB_dom pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 46 0 0 28 6 17.6471 HSPG2 0 genome.wustl.edu 37 1 22188329 22188329 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 22188329 22188329 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.4876 p.R1626S 1.000 pfam_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 52 0 0 17 4 19.0476 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 365 0 0 105 46 30.4636 PARP1 0 genome.wustl.edu 37 1 226576414 226576414 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 226576414 226576414 C T SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.660 p.A220 1.000 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 222 1 0.44843 108 21 16.2791 WNT3A 0 genome.wustl.edu 37 1 228210473 228210473 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 228210473 228210473 C T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known silent c.177 p.Y59 0.998 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 124 0 0 27 12 30.7692 OBSCN 0 genome.wustl.edu 37 1 228495098 228495098 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 228495098 228495098 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12332 p.A4111V 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 25 0 0 20 8 28.5714 HIST3H2BB 0 genome.wustl.edu 37 1 228646120 228646120 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 228646120 228646120 C T SNP HIST3H2BB ENST00000369160 human ensembl 74_37 +1 known missense c.290 p.T97M 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST3H2BB HGNC ENSG00000196890 154 0 0 79 15 15.9574 ACTA1 0 genome.wustl.edu 37 1 229567918 229567918 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 229567918 229567918 C T SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known missense c.631 p.V211M 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 69 0 0 19 7 26.9231 DISC1 0 genome.wustl.edu 37 1 232002317 232002317 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 232002317 232002317 T G SNP DISC1 ENST00000366636 human ensembl 74_37 +1 known missense c.2030 p.L677R 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 55 0 0 23 8 25.8065 ASAP3 0 genome.wustl.edu 37 1 23758199 23758199 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 23758199 23758199 C T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.2536 p.V846I 0.778 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 174 0 0 66 20 23.2558 RYR2 0 genome.wustl.edu 37 1 237659953 237659953 + Nonsense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 237659953 237659953 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.2098 p.G700* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 156 0 0 66 10 13.1579 RYR2 0 genome.wustl.edu 37 1 237806708 237806708 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 237806708 237806708 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7297 p.V2433I 0.611 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 169 0 0 86 10 10.4167 RYR2 0 genome.wustl.edu 37 1 237947057 237947057 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 237947057 237947057 A T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12063 p.K4021N 0.981 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 32 0 0 21 5 19.2308 TCEB3 0 genome.wustl.edu 37 1 24077884 24077884 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 24077884 24077884 C A SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known silent c.867 p.A289 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 116 0 0 52 5 8.77193 PLD5 0 genome.wustl.edu 37 1 242277235 242277235 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 242277235 242277235 C T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.1027 p.A343T 0.979 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 113 0 0 47 12 20.339 SCCPDH 0 genome.wustl.edu 37 1 246903516 246903516 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 246903516 246903516 G T SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known missense c.427 p.D143Y 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 90 0 0 59 9 13.2353 OR2B11 0 genome.wustl.edu 37 1 247614943 247614943 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 247614943 247614943 C T SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known silent c.342 p.T114 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 117 0 0 60 14 18.9189 OR2G3 0 genome.wustl.edu 37 1 247769083 247769083 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 247769083 247769083 C A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.196 p.L66I 1.000 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 OR2G3 HGNC ENSG00000177476 433 0 0 180 29 13.8756 OR11L1 0 genome.wustl.edu 37 1 248004808 248004808 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 248004808 248004808 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.391 p.R131C 0.975 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 85 0 0 34 8 19.0476 OR2L8 0 genome.wustl.edu 37 1 248112563 248112563 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 248112563 248112563 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.404 p.M135T 0.014 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 OR2L8 HGNC ENSG00000196936 257 0 0 153 23 13.0682 OR2T12 0 genome.wustl.edu 37 1 248458349 248458349 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 248458349 248458349 C T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.532 p.E178K 0.999 pfam_GPCR_Rhodpsn,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 OR2T12 HGNC ENSG00000177201 155 0 0 57 17 22.973 OR2M7 0 genome.wustl.edu 37 1 248487386 248487386 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 248487386 248487386 G A SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.485 p.A162V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 422 0 0 205 53 20.5426 ZNF692 0 genome.wustl.edu 37 1 249151606 249151606 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 249151606 249151606 C T SNP ZNF692 ENST00000451251 human ensembl 74_37 -1 known missense c.317 p.R106Q 0.941 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 137 0 0 62 18 22.5 C1orf63 0 genome.wustl.edu 37 1 25571717 25571717 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 25571717 25571717 G T SNP C1orf63 ENST00000417642 human ensembl 74_37 -1 known missense c.575 p.A192D 0.676 NULL NULL - no_errors C1orf63 HGNC ENSG00000117616 153 1 0.649351 68 14 17.0732 ACTRT2 0 genome.wustl.edu 37 1 2939080 2939080 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 2939080 2939080 C T SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.830 p.S277L 0.741 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 273 0 0 94 22 18.9655 MATN1 0 genome.wustl.edu 37 1 31189718 31189718 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 31189718 31189718 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.709 p.V237M 0.997 pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 47 0 0 13 3 18.75 BAI2 0 genome.wustl.edu 37 1 32207516 32207516 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 32207516 32207516 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.1470 p.T490 0.990 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 98 0 0 47 7 12.963 KPNA6 0 genome.wustl.edu 37 1 32623924 32623924 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 32623924 32623924 G A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.403 p.V135M 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 236 1 0.421941 106 30 22.0588 HDAC1 0 genome.wustl.edu 37 1 32793088 32793088 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 32793088 32793088 G A SNP HDAC1 ENST00000490081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HDAC1 HGNC ENSG00000116478 137 0 0 39 16 29.0909 ZNF362 0 genome.wustl.edu 37 1 33764618 33764618 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 33764618 33764618 G A SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.1234 p.G412S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 138 0 0 49 5 9.25926 ARHGEF16 0 genome.wustl.edu 37 1 3390004 3390004 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 3390004 3390004 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.1223 p.R408Q 0.018 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 162 0 0 63 20 24.0964 CSMD2 0 genome.wustl.edu 37 1 33985245 33985245 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 33985245 33985245 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.10769 p.A3590V 0.977 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 CSMD2 HGNC ENSG00000121904 509 0 0 175 33 15.8654 NCDN 0 genome.wustl.edu 37 1 36026370 36026370 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 36026370 36026370 C T SNP NCDN ENST00000356090 human ensembl 74_37 +1 known silent c.618 p.A206 0.032 NULL NULL - no_errors NCDN HGNC ENSG00000020129 87 0 0 39 10 20.4082 NCDN 0 genome.wustl.edu 37 1 36028834 36028834 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 36028834 36028834 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1417 p.V473I 0.927 NULL NULL - no_errors NCDN HGNC ENSG00000020129 60 0 0 29 4 12.1212 TFAP2E 0 genome.wustl.edu 37 1 36056352 36056352 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 36056352 36056352 G A SNP TFAP2E ENST00000373235 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC ENSG00000116819 27 0 0 3 3 50 TRAPPC3 0 genome.wustl.edu 37 1 36602646 36602646 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 36602646 36602646 C T SNP TRAPPC3 ENST00000462715 human ensembl 74_37 -1 known rna NULL NULL 0.150 - - - no_errors TRAPPC3 HGNC ENSG00000054116 18 0 0 10 2 16.6667 GRIK3 0 genome.wustl.edu 37 1 37319269 37319269 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 37319269 37319269 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1159 p.R387W 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 131 0 0 37 11 22.9167 EPHA10 0 genome.wustl.edu 37 1 38187410 38187410 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 38187410 38187410 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2068 p.G690S 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 59 0 0 20 2 9.09091 MACF1 0 genome.wustl.edu 37 1 39910508 39910508 + Splice_Site SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 39910508 39910508 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known splice_site c.13428+1 e75+1 1.000 - - - no_errors MACF1 HGNC ENSG00000127603 111 0 0 45 4 8.16327 NT5C1A 0 genome.wustl.edu 37 1 40124850 40124850 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 40124850 40124850 A G SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known silent c.1050 p.G350 0.035 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 107 0 0 50 12 19.3548 YBX1 0 genome.wustl.edu 37 1 43166532 43166532 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 43166532 43166532 A C SNP YBX1 ENST00000321358 human ensembl 74_37 +1 known missense c.821 p.Q274P 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX1 HGNC ENSG00000065978 157 0 0 41 6 12.766 C1orf50 0 genome.wustl.edu 37 1 43240471 43240471 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 43240471 43240471 C A SNP C1orf50 ENST00000372525 human ensembl 74_37 +1 known missense c.346 p.P116T 1.000 pfam_DUF2452,superfamily_Cytidine_deaminase-like pfam_DUF2452,superfamily_Cytidine_deaminase-like - no_errors C1orf50 HGNC ENSG00000164008 201 0 0 83 17 17 PTPRF 0 genome.wustl.edu 37 1 44010775 44010775 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44010775 44010775 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.29 p.T10M 0.966 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 8 0 0 4 2 33.3333 PTPRF 0 genome.wustl.edu 37 1 44035352 44035352 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44035352 44035352 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.471 p.A157 0.991 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 123 0 0 41 15 26.7857 PTPRF 0 genome.wustl.edu 37 1 44069443 44069443 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44069443 44069443 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.2620 p.D874N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 155 0 0 58 11 15.942 SLC6A9 0 genome.wustl.edu 37 1 44482788 44482788 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44482788 44482788 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known silent c.18 p.T6 0.409 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 55 0 0 14 5 26.3158 DMAP1 0 genome.wustl.edu 37 1 44680454 44680454 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44680454 44680454 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.277 p.R93W 0.999 NULL pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 108 0 0 51 9 15 ERI3 0 genome.wustl.edu 37 1 44713617 44713617 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 44713617 44713617 C T SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known missense c.925 p.G309S 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 119 0 0 44 5 10.2041 HPDL 0 genome.wustl.edu 37 1 45793416 45793416 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 45793416 45793416 T C SNP HPDL ENST00000334815 human ensembl 74_37 +1 known missense c.596 p.L199P 0.590 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 94 0 0 38 11 22.449 FAAH 0 genome.wustl.edu 37 1 46876093 46876093 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 46876093 46876093 G A SNP FAAH ENST00000243167 human ensembl 74_37 +1 known missense c.1199 p.C400Y 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 636 0 0 201 54 21.1765 C1orf87 0 genome.wustl.edu 37 1 60506705 60506705 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 60506705 60506705 C T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known nonsense c.441 p.W147* 0.953 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 155 0 0 74 18 19.5652 CHD5 0 genome.wustl.edu 37 1 6215730 6215730 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 6215730 6215730 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.435 p.D145 0.598 NULL 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 118 0 0 43 10 18.8679 USP1 0 genome.wustl.edu 37 1 62916034 62916034 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 62916034 62916034 G A SNP USP1 ENST00000339950 human ensembl 74_37 +1 known silent c.1740 p.A580 0.030 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 185 0 0 84 17 16.8317 NOL9 0 genome.wustl.edu 37 1 6585974 6585974 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 6585974 6585974 A G SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known silent c.2049 p.P683 0.000 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 285 0 0 117 29 19.863 LRRIQ3 0 genome.wustl.edu 37 1 74507249 74507249 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 74507249 74507249 C T SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1366 p.A456T 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 162 0 0 80 15 15.7895 LRRIQ3 0 genome.wustl.edu 37 1 74649285 74649285 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 74649285 74649285 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.84 p.K28 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 41 0 0 24 9 27.2727 COL24A1 0 genome.wustl.edu 37 1 86591529 86591529 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 86591529 86591529 G A SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.490 p.H164Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 50 0 0 47 7 12.963 LMO4 0 genome.wustl.edu 37 1 87805253 87805253 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 87805253 87805253 G A SNP LMO4 ENST00000370542 human ensembl 74_37 +1 known missense c.271 p.G91R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO4 HGNC ENSG00000143013 70 0 0 29 6 17.1429 PIK3CD 0 genome.wustl.edu 37 1 9780209 9780209 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 9780209 9780209 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1274 p.R425H 0.947 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 142 0 0 45 11 19.6429 LPPR4 0 genome.wustl.edu 37 1 99772446 99772446 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 99772446 99772446 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.2172 p.R724 0.981 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 95 0 0 46 10 17.8571 CNNM1 0 genome.wustl.edu 37 10 101147941 101147941 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 101147941 101147941 G A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.2557 p.E853K 0.975 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 114 0 0 42 7 14.2857 CPN1 0 genome.wustl.edu 37 10 101824970 101824970 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 101824970 101824970 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.734 p.T245M 0.988 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 162 0 0 80 22 21.5686 C10orf2 0 genome.wustl.edu 37 10 102749148 102749148 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 102749148 102749148 G A SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.1181 p.R394H 1.000 pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 172 0 0 59 7 10.6061 PPRC1 0 genome.wustl.edu 37 10 103904094 103904094 + RNA SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 103904094 103904094 T C SNP PPRC1 ENST00000462933 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PPRC1 HGNC ENSG00000148840 71 0 0 23 4 14.8148 CUEDC2 0 genome.wustl.edu 37 10 104183130 104183130 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 104183130 104183130 G A SNP CUEDC2 ENST00000465409 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CUEDC2 HGNC ENSG00000107874 162 0 0 75 11 12.7907 MIR1307 0 genome.wustl.edu 37 10 105154068 105154068 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 105154068 105154068 G A SNP MIR1307 ENST00000408840 human ensembl 74_37 -1 known rna NULL NULL 0.204 - - - no_errors MIR1307 HGNC ENSG00000221767 173 0 0 60 15 20 PDCD11 0 genome.wustl.edu 37 10 105178275 105178275 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 105178275 105178275 C A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1990 p.L664I 0.918 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 143 0 0 67 14 17.284 ABLIM1 0 genome.wustl.edu 37 10 116247743 116247743 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 116247743 116247743 A T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1015 p.S339T 0.945 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 398 0 0 126 29 18.7097 TIAL1 0 genome.wustl.edu 37 10 121342098 121342098 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 121342098 121342098 T C SNP TIAL1 ENST00000369093 human ensembl 74_37 -1 known missense c.152 p.N51S 0.988 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 109 0 0 63 8 11.2676 BAG3 0 genome.wustl.edu 37 10 121429568 121429568 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 121429568 121429568 C T SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known missense c.386 p.A129V 0.000 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 223 0 0 96 6 5.88235 SEC23IP 0 genome.wustl.edu 37 10 121691686 121691686 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 121691686 121691686 C T SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known nonsense c.2614 p.Q872* 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 129 0 0 66 9 12 CDC123 0 genome.wustl.edu 37 10 12288245 12288245 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 12288245 12288245 G A SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known missense c.815 p.G272D 0.998 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 165 0 0 103 14 11.9658 TACC2 0 genome.wustl.edu 37 10 123842944 123842944 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 123842944 123842944 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.929 p.C310Y 0.001 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 187 0 0 71 16 18.3908 KNDC1 0 genome.wustl.edu 37 10 135009203 135009203 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 135009203 135009203 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.1612 p.A538T 0.991 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 44 0 0 24 5 17.2414 MTG1 0 genome.wustl.edu 37 10 135233048 135233048 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 135233048 135233048 G A SNP MTG1 ENST00000317502 human ensembl 74_37 +1 known missense c.817 p.A273T 0.966 pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 24 0 0 13 3 18.75 CUBN 0 genome.wustl.edu 37 10 17061870 17061870 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 17061870 17061870 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4130 p.R1377H 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 108 0 0 41 9 18 ARMC3 0 genome.wustl.edu 37 10 23235188 23235188 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 23235188 23235188 A C SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.164 p.K55T 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 106 0 0 30 6 16.6667 ZMYND11 0 genome.wustl.edu 37 10 255984 255984 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 255984 255984 A G SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.272 p.E91G 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 166 0 0 61 11 15.2778 ANKRD26 0 genome.wustl.edu 37 10 27311608 27311608 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 27311608 27311608 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.4142 p.N1381S 0.038 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 76 0 0 39 7 15.2174 SVIL 0 genome.wustl.edu 37 10 29821496 29821496 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 29821496 29821496 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.1800 p.A600 0.001 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 62 0 0 34 5 12.8205 PFKP 0 genome.wustl.edu 37 10 3147337 3147337 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 3147337 3147337 G T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.651 p.M217I 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 56 0 0 26 6 18.75 C10orf68 0 genome.wustl.edu 37 10 33018260 33018260 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 33018260 33018260 C T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.701 p.T234M 0.328 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 96 0 0 46 12 20.6897 CUL2 0 genome.wustl.edu 37 10 35299267 35299267 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 35299267 35299267 G A SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.2267 p.S756L 0.988 smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 70 0 0 30 8 21.0526 GJD4 0 genome.wustl.edu 37 10 35896743 35896743 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 35896743 35896743 C T SNP GJD4 ENST00000321660 human ensembl 74_37 +1 known missense c.302 p.A101V 0.004 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 81 0 0 46 7 13.2075 DIP2C 0 genome.wustl.edu 37 10 394598 394598 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 394598 394598 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.3214 p.V1072I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 268 0 0 89 24 21.2389 FLJ31813 0 genome.wustl.edu 37 10 51818917 51818917 + RNA SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 51818917 51818917 T C SNP FLJ31813 ENST00000456967 human ensembl 74_37 -1 known rna NULL NULL 0.091 - - - no_errors RP11-324H6.5 Clone_based_vega_gene ENSG00000235618 51 0 0 16 4 20 PCDH15 0 genome.wustl.edu 37 10 55582606 55582606 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 55582606 55582606 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4880 p.T1627I 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 232 0 0 102 21 17.0732 FAM208B 0 genome.wustl.edu 37 10 5777426 5777426 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 5777426 5777426 C A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.1364 p.P455H 0.002 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 230 0 0 88 18 16.9811 ANK3 0 genome.wustl.edu 37 10 61833777 61833777 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 61833777 61833777 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6862 p.K2288E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 248 0 0 124 19 13.2867 ZNF365 0 genome.wustl.edu 37 10 64403708 64403708 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 64403708 64403708 C T SNP ZNF365 ENST00000395251 human ensembl 74_37 +1 known missense c.23 p.T8I 0.573 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 143 0 0 57 9 13.6364 EGR2 0 genome.wustl.edu 37 10 64574120 64574120 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 64574120 64574120 A G SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.278 p.M93T 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 95 0 0 54 11 16.9231 KIN 0 genome.wustl.edu 37 10 7798106 7798106 + Splice_Site SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 7798106 7798106 C A SNP KIN ENST00000379562 human ensembl 74_37 -1 known splice_site c.1120-1 e13-1 1.000 - - - no_errors KIN HGNC ENSG00000151657 84 0 0 26 10 27.7778 DLG5 0 genome.wustl.edu 37 10 79614032 79614032 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 79614032 79614032 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.633 p.N211 0.984 pfam_DUF622 pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 88 0 0 32 12 27.2727 ACTA2 0 genome.wustl.edu 37 10 90706915 90706915 + RNA SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 90706915 90706915 T C SNP ACTA2 ENST00000488967 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACTA2 HGNC ENSG00000107796 63 0 0 32 4 11.1111 IFIT2 0 genome.wustl.edu 37 10 91066903 91066903 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 91066903 91066903 A C SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.1190 p.E397A 0.031 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 147 0 0 71 14 16.4706 RPP30 0 genome.wustl.edu 37 10 92656136 92656136 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 92656136 92656136 G A SNP RPP30 ENST00000413330 human ensembl 74_37 +1 known silent c.684 p.A228 0.000 superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 72 0 0 29 7 19.4444 MYOF 0 genome.wustl.edu 37 10 95076536 95076536 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 95076536 95076536 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.5633 p.R1878Q 0.789 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 104 1 0.952381 49 8 14.0351 KIAA1377 0 genome.wustl.edu 37 11 101834578 101834578 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 101834578 101834578 C T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.2812 p.P938S 0.004 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 179 0 0 60 12 16.6667 KBTBD3 0 genome.wustl.edu 37 11 105929633 105929633 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 105929633 105929633 C T SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known silent c.192 p.P64 0.700 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 68 0 0 35 7 16.6667 ATM 0 genome.wustl.edu 37 11 108160475 108160475 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 108160475 108160475 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4383 p.W1461C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 57 0 0 40 9 18.3673 ZC3H12C 0 genome.wustl.edu 37 11 110035729 110035729 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 110035729 110035729 A G SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1919 p.Y640C 0.864 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 137 0 0 57 13 18.5714 ARHGAP20 0 genome.wustl.edu 37 11 110451319 110451319 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 110451319 110451319 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2351 p.G784D 0.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 185 1 0.537634 99 12 10.8108 USP28 0 genome.wustl.edu 37 11 113699980 113699980 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 113699980 113699980 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.998 p.A333V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 117 0 0 39 10 20.4082 IL10RA 0 genome.wustl.edu 37 11 117869725 117869725 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 117869725 117869725 A C SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known missense c.1106 p.D369A 0.999 NULL superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 83 0 0 22 6 21.4286 MPZL3 0 genome.wustl.edu 37 11 118122995 118122995 + Silent SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 118122995 118122995 T G SNP MPZL3 ENST00000278949 human ensembl 74_37 -1 known silent c.15 p.G5 0.138 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL3 HGNC ENSG00000160588 150 0 0 53 7 11.6667 KMT2A 0 genome.wustl.edu 37 11 118343010 118343010 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 118343010 118343010 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.1136 p.A379V 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 156 0 0 52 15 22.3881 MFRP 0 genome.wustl.edu 37 11 119212679 119212679 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 119212679 119212679 G T SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.1403 p.P468H 0.971 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 94 0 0 40 4 9.09091 GRIK4 0 genome.wustl.edu 37 11 120827494 120827494 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 120827494 120827494 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1706 p.T569M 0.996 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 196 0 0 66 11 14.2857 TECTA 0 genome.wustl.edu 37 11 121016339 121016339 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 121016339 121016339 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3619 p.V1207M 0.983 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 251 1 0.396825 143 20 12.2699 C11orf63 0 genome.wustl.edu 37 11 122817342 122817342 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 122817342 122817342 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1771 p.V591I 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 48 0 0 41 11 21.1538 MICALCL 0 genome.wustl.edu 37 11 12315180 12315180 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 12315180 12315180 C G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.202 p.R68G 0.003 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 409 1 0.243902 175 16 8.37696 SRPR 0 genome.wustl.edu 37 11 126135176 126135176 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 126135176 126135176 G A SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.1298 p.T433I 1.000 pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 90 0 0 37 8 17.7778 KIRREL3 0 genome.wustl.edu 37 11 126314880 126314880 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 126314880 126314880 C T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.1246 p.V416I 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 147 0 0 47 9 16.0714 ETS1 0 genome.wustl.edu 37 11 128391832 128391832 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 128391832 128391832 C T SNP ETS1 ENST00000319397 human ensembl 74_37 -1 known missense c.58 p.D20N 0.999 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 112 0 0 44 4 8.33333 ARHGAP32 0 genome.wustl.edu 37 11 128842462 128842462 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 128842462 128842462 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.3897 p.T1299 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 146 0 0 63 13 17.1053 LGR4 0 genome.wustl.edu 37 11 27390555 27390555 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 27390555 27390555 G A SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.1715 p.S572L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 155 0 0 55 15 21.4286 HIPK3 0 genome.wustl.edu 37 11 33362656 33362656 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 33362656 33362656 G A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.1756 p.G586R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 50 0 0 32 10 23.8095 KIAA1549L 0 genome.wustl.edu 37 11 33565180 33565180 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 33565180 33565180 G T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.1180 p.A394S 0.091 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 50 0 0 34 6 15 KIAA1549L 0 genome.wustl.edu 37 11 33565323 33565323 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 33565323 33565323 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known silent c.1323 p.L441 0.125 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 259 0 0 85 30 26.087 PHF21A 0 genome.wustl.edu 37 11 46001356 46001356 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 46001356 46001356 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known silent c.315 p.H105 0.857 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 98 0 0 52 10 16.129 AMBRA1 0 genome.wustl.edu 37 11 46455113 46455113 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 46455113 46455113 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known nonsense c.2887 p.R963* 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 79 0 0 36 9 20 LRP4 0 genome.wustl.edu 37 11 46895077 46895077 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 46895077 46895077 G T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.4297 p.L1433M 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 169 0 0 59 7 10.6061 PSMC3 0 genome.wustl.edu 37 11 47444173 47444173 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 47444173 47444173 G A SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.836 p.A279V 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 147 0 0 75 18 19.3548 RAPSN 0 genome.wustl.edu 37 11 47470379 47470379 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 47470379 47470379 C T SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known silent c.138 p.L46 1.000 pfam_Rapsyn_myristoylation/link_N pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 134 0 0 49 15 23.4375 NUP160 0 genome.wustl.edu 37 11 47827905 47827905 + RNA SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 47827905 47827905 T A SNP NUP160 ENST00000526569 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NUP160 HGNC ENSG00000030066 29 0 0 18 6 25 PTPRJ 0 genome.wustl.edu 37 11 48149351 48149351 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 48149351 48149351 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.1113 p.D371 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 137 0 0 57 20 25.974 OR51G1 0 genome.wustl.edu 37 11 4945194 4945194 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 4945194 4945194 C T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.376 p.V126M 0.260 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 113 0 0 41 6 12.766 RNH1 0 genome.wustl.edu 37 11 502099 502099 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 502099 502099 C T SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.64 p.E22K 0.493 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 40 0 0 21 4 16 OR5D13 0 genome.wustl.edu 37 11 55541171 55541171 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 55541171 55541171 C T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known silent c.258 p.N86 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 197 0 0 100 26 20.6349 OR8H2 0 genome.wustl.edu 37 11 55872620 55872620 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 55872620 55872620 G T SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known silent c.102 p.L34 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 424 0 0 212 52 19.697 OR5R1 0 genome.wustl.edu 37 11 56185444 56185444 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 56185444 56185444 G A SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.265 p.R89C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 63 0 0 42 9 17.6471 OR5M9 0 genome.wustl.edu 37 11 56230791 56230791 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 56230791 56230791 G T SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.87 p.F29L 0.966 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 71 0 0 31 7 18.4211 OR4D9 0 genome.wustl.edu 37 11 59282922 59282922 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 59282922 59282922 C T SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known silent c.537 p.C179 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 282 1 0.353357 108 28 20.5882 PHRF1 0 genome.wustl.edu 37 11 598487 598487 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 598487 598487 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.1009 p.R337W 0.738 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 48 0 0 20 6 23.0769 ATG2A 0 genome.wustl.edu 37 11 64679671 64679671 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 64679671 64679671 C T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.973 p.E325K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 183 0 0 62 15 19.4805 AP5B1 0 genome.wustl.edu 37 11 65545526 65545526 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 65545526 65545526 C T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.2438 p.R813H 0.155 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 98 0 0 40 7 14.8936 CNIH2 0 genome.wustl.edu 37 11 66050763 66050763 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 66050763 66050763 C T SNP CNIH2 ENST00000311445 human ensembl 74_37 +1 known missense c.356 p.A119V 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH2 HGNC ENSG00000174871 308 0 0 137 19 12.1795 CORO1B 0 genome.wustl.edu 37 11 67207818 67207818 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 67207818 67207818 G A SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known silent c.849 p.Y283 0.997 pfam_DUF1900,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 126 0 0 65 4 5.7971 TBX10 0 genome.wustl.edu 37 11 67402652 67402652 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 67402652 67402652 C T SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known silent c.90 p.R30 0.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 145 0 0 45 14 23.7288 PPP6R3 0 genome.wustl.edu 37 11 68338536 68338536 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 68338536 68338536 G A SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.1307 p.R436Q 1.000 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 64 0 0 25 5 16.6667 MRPL21 0 genome.wustl.edu 37 11 68660885 68660885 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 68660885 68660885 G T SNP MRPL21 ENST00000362034 human ensembl 74_37 -1 known silent c.435 p.G145 0.997 tigrfam_Ribosomal_L21 tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 130 0 0 20 24 54.5455 MRGPRD 0 genome.wustl.edu 37 11 68748320 68748320 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 68748320 68748320 T G SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known missense c.136 p.S46R 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 83 0 0 35 6 14.6341 TPCN2 0 genome.wustl.edu 37 11 68835058 68835058 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 68835058 68835058 G A SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.814 p.A272T 0.956 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 119 0 0 30 15 33.3333 CTTN 0 genome.wustl.edu 37 11 70266595 70266595 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 70266595 70266595 C T SNP CTTN ENST00000301843 human ensembl 74_37 +1 known nonsense c.769 p.Q257* 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 138 0 0 40 14 25.9259 DHCR7 0 genome.wustl.edu 37 11 71155135 71155135 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 71155135 71155135 G A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.225 p.I75 0.000 NULL pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 50 0 0 11 2 15.3846 ENSG00000256518 0 genome.wustl.edu 37 11 71870037 71870037 + RNA SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 71870037 71870037 C G SNP ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 172 0 0 54 11 16.9231 FOLR1 0 genome.wustl.edu 37 11 71906954 71906954 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 71906954 71906954 C T SNP FOLR1 ENST00000312293 human ensembl 74_37 +1 known silent c.507 p.C169 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 194 0 0 74 5 6.32911 RELT 0 genome.wustl.edu 37 11 73106534 73106534 + Nonstop_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 73106534 73106534 T C SNP RELT ENST00000064780 human ensembl 74_37 +1 known nonstop c.1291 p.*431R 0.994 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 160 1 0.621118 48 11 18.6441 NEU3 0 genome.wustl.edu 37 11 74717419 74717419 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 74717419 74717419 C T SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known missense c.1268 p.T423I 0.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 241 1 0.413223 89 16 15.2381 PRKRIR 0 genome.wustl.edu 37 11 76062779 76062779 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 76062779 76062779 C T SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.1415 p.S472N 1.000 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 151 0 0 69 14 16.8675 LRRC32 0 genome.wustl.edu 37 11 76372210 76372210 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 76372210 76372210 G A SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.427 p.R143W 0.294 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 94 0 0 29 8 21.6216 CCDC90B 0 genome.wustl.edu 37 11 82989836 82989836 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 82989836 82989836 G A SNP CCDC90B ENST00000529689 human ensembl 74_37 -1 known missense c.257 p.A86V 0.783 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 100 0 0 84 11 11.5789 TRIM49 0 genome.wustl.edu 37 11 89537259 89537259 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 89537259 89537259 G A SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.379 p.R127C 0.001 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 79 0 0 29 12 29.2683 C11orf16 0 genome.wustl.edu 37 11 8953790 8953790 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 8953790 8953790 C A SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.66 p.K22N 0.909 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 21 0 0 12 3 20 SLC36A4 0 genome.wustl.edu 37 11 92918965 92918965 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 92918965 92918965 C A SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known missense c.71 p.R24M 1.000 NULL pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 71 0 0 45 5 10 HEPHL1 0 genome.wustl.edu 37 11 93796776 93796776 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 93796776 93796776 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.518 p.A173V 0.996 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 126 1 0.787402 55 7 11.2903 NUAK1 0 genome.wustl.edu 37 12 106461214 106461214 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 106461214 106461214 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1352 p.P451L 0.112 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 103 0 0 35 11 23.913 POLR3B 0 genome.wustl.edu 37 12 106786837 106786837 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 106786837 106786837 T C SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.752 p.I251T 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 181 0 0 85 15 15 STYK1 0 genome.wustl.edu 37 12 10782235 10782235 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 10782235 10782235 G A SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known nonsense c.490 p.R164* 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 110 0 0 36 10 21.7391 SELPLG 0 genome.wustl.edu 37 12 109016933 109016933 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 109016933 109016933 A G SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.1151 p.L384P 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 24 0 0 15 4 21.0526 SSH1 0 genome.wustl.edu 37 12 109192889 109192889 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 109192889 109192889 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known silent c.1236 p.F412 0.653 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 81 0 0 23 4 14.8148 ACACB 0 genome.wustl.edu 37 12 109704115 109704115 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 109704115 109704115 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.7325 p.R2442Q 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 109 0 0 41 7 14.5833 ENSG00000221246 0 genome.wustl.edu 37 12 111070435 111070435 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 111070435 111070435 G A SNP ENSG00000221246 ENST00000408319 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC144522.1 Clone_based_ensembl_gene ENSG00000221246 67 0 0 36 10 21.7391 MYL2 0 genome.wustl.edu 37 12 111348961 111348961 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 111348961 111348961 C T SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known missense c.421 p.A141T 1.000 smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL2 HGNC ENSG00000111245 263 0 0 73 9 10.9756 NAA25 0 genome.wustl.edu 37 12 112485518 112485518 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 112485518 112485518 G A SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known nonsense c.1957 p.R653* 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 417 0 0 160 32 16.6667 NOS1 0 genome.wustl.edu 37 12 117664550 117664550 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 117664550 117664550 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.3642 p.G1214 0.997 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 88 0 0 38 6 13.6364 MLXIP 0 genome.wustl.edu 37 12 122614587 122614587 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 122614587 122614587 G A SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known missense c.838 p.E280K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 61 0 0 28 10 26.3158 VPS33A 0 genome.wustl.edu 37 12 122723199 122723199 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 122723199 122723199 G A SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known nonsense c.1237 p.Q413* 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 278 0 0 110 12 9.83607 CLIP1 0 genome.wustl.edu 37 12 122845598 122845598 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 122845598 122845598 C T SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.913 p.A305T 0.995 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 84 0 0 35 15 30 NCOR2 0 genome.wustl.edu 37 12 124827627 124827627 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 124827627 124827627 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.4881 p.G1627 0.740 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 85 0 0 19 3 13.6364 PIWIL1 0 genome.wustl.edu 37 12 130855769 130855769 + Silent SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 130855769 130855769 T G SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.2370 p.S790 0.353 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 213 0 0 100 22 18.0328 GOLGA3 0 genome.wustl.edu 37 12 133351739 133351739 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 133351739 133351739 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.4131 p.G1377 0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 118 0 0 51 7 12.069 GRIN2B 0 genome.wustl.edu 37 12 13716277 13716277 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 13716277 13716277 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3895 p.R1299C 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 213 0 0 99 16 13.913 SMCO3 0 genome.wustl.edu 37 12 14959221 14959221 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 14959221 14959221 C T SNP SMCO3 ENST00000316048 human ensembl 74_37 -1 known missense c.394 p.A132T 1.000 NULL NULL - no_errors SMCO3 HGNC ENSG00000179256 153 0 0 98 7 6.66667 TMTC1 0 genome.wustl.edu 37 12 29757135 29757135 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 29757135 29757135 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.902 p.A301V 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 77 0 0 37 4 9.7561 RHNO1 0 genome.wustl.edu 37 12 2997147 2997147 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 2997147 2997147 G A SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known missense c.239 p.R80K 0.005 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 63 0 0 24 10 29.4118 DDX11 0 genome.wustl.edu 37 12 31245812 31245812 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 31245812 31245812 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.1275 p.Y425 0.999 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 112 0 0 41 4 8.88889 BICD1 0 genome.wustl.edu 37 12 32446952 32446952 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 32446952 32446952 A G SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.451 p.R151G 1.000 pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 95 0 0 40 6 13.0435 BICD1 0 genome.wustl.edu 37 12 32490545 32490545 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 32490545 32490545 G A SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2365 p.A789T 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 106 0 0 39 8 17.0213 FGD4 0 genome.wustl.edu 37 12 32777996 32777996 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 32777996 32777996 G T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.1629 p.E543D 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 147 0 0 93 11 10.5769 KIF21A 0 genome.wustl.edu 37 12 39756911 39756911 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 39756911 39756911 G T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known silent c.1008 p.L336 0.900 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 114 0 0 88 15 14.5631 PDZRN4 0 genome.wustl.edu 37 12 41966842 41966842 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 41966842 41966842 G A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.2261 p.R754H 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 213 0 0 94 16 14.5455 PRICKLE1 0 genome.wustl.edu 37 12 42854270 42854270 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 42854270 42854270 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1837 p.P613S 0.847 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 174 0 0 93 16 14.6789 ANO6 0 genome.wustl.edu 37 12 45771877 45771877 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 45771877 45771877 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known silent c.1146 p.A382 0.998 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 101 0 0 66 13 16.4557 ANO6 0 genome.wustl.edu 37 12 45822989 45822989 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 45822989 45822989 G T SNP ANO6 ENST00000320560 human ensembl 74_37 +1 known missense c.2628 p.K876N 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 63 0 0 35 7 16.6667 ASB8 0 genome.wustl.edu 37 12 48547247 48547247 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 48547247 48547247 G A SNP ASB8 ENST00000317697 human ensembl 74_37 -1 known silent c.33 p.S11 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB8 HGNC ENSG00000177981 142 0 0 74 13 14.9425 CCNT1 0 genome.wustl.edu 37 12 49086828 49086828 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 49086828 49086828 G A SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known silent c.2169 p.P723 0.892 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 49 0 0 19 5 20.8333 CCNT1 0 genome.wustl.edu 37 12 49087188 49087188 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 49087188 49087188 G T SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known silent c.1809 p.S603 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 122 0 0 61 5 7.57576 ADCY6 0 genome.wustl.edu 37 12 49176653 49176653 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 49176653 49176653 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.565 p.A189T 0.518 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 80 0 0 21 7 25 KMT2D 0 genome.wustl.edu 37 12 49444688 49444688 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 49444688 49444688 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.2778 p.S926 0.967 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 169 0 0 74 17 18.6813 TROAP 0 genome.wustl.edu 37 12 49724484 49724484 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 49724484 49724484 C A SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1856 p.P619H 0.067 NULL NULL - no_errors TROAP HGNC ENSG00000135451 113 0 0 62 7 10.1449 TMBIM6 0 genome.wustl.edu 37 12 50146265 50146265 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 50146265 50146265 G A SNP TMBIM6 ENST00000423828 human ensembl 74_37 +1 known missense c.163 p.D55N 0.989 NULL pfam_Bax_inhibitor_1-related - no_errors TMBIM6 HGNC ENSG00000139644 159 0 0 59 12 16.9014 KCNA1 0 genome.wustl.edu 37 12 5021217 5021217 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 5021217 5021217 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 pfam_Ion_trans_dom,prints_K_chnl 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 120 0 0 65 8 10.9589 AQP5 0 genome.wustl.edu 37 12 50357276 50357276 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 50357276 50357276 T G SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.365 p.L122R 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_5,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 208 0 0 82 18 18 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 144 0 0 28 27 49.0909 TENC1 0 genome.wustl.edu 37 12 53453432 53453432 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 53453432 53453432 C T SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known silent c.2037 p.R679 0.006 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 139 1 0.714286 47 8 14.5455 ESPL1 0 genome.wustl.edu 37 12 53668729 53668729 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 53668729 53668729 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.1635 p.P545 0.979 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 68 0 0 31 6 16.2162 LRP1 0 genome.wustl.edu 37 12 57592321 57592321 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 57592321 57592321 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.9544 p.V3182I 0.988 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 44 0 0 15 4 21.0526 VWF 0 genome.wustl.edu 37 12 6120863 6120863 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 6120863 6120863 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5762 p.R1921Q 0.005 pirsf_VWF 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 60 0 0 19 5 20.8333 CHD4 0 genome.wustl.edu 37 12 6703729 6703729 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 6703729 6703729 A G SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.2209 p.L737 0.998 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 143 0 0 48 12 20 LPAR5 0 genome.wustl.edu 37 12 6729440 6729440 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 6729440 6729440 C T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known silent c.975 p.T325 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 30 0 0 13 3 18.75 FRS2 0 genome.wustl.edu 37 12 69968091 69968091 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 69968091 69968091 C T SNP FRS2 ENST00000299293 human ensembl 74_37 +1 known nonsense c.883 p.R295* 1.000 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 162 1 0.613497 63 14 18.1818 ENO2 0 genome.wustl.edu 37 12 7030885 7030885 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 7030885 7030885 C T SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.1007 p.A336V 1.000 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 106 0 0 48 12 20 TMTC2 0 genome.wustl.edu 37 12 83250837 83250837 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 83250837 83250837 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.132 p.T44 0.006 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 252 0 0 106 17 13.8211 FAM90A1 0 genome.wustl.edu 37 12 8374554 8374554 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 8374554 8374554 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.1259 p.P420L 0.001 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 83 0 0 26 6 18.75 SLC6A15 0 genome.wustl.edu 37 12 85264301 85264301 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 85264301 85264301 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1451 p.T484M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 201 0 0 58 14 19.4444 MFAP5 0 genome.wustl.edu 37 12 8803134 8803134 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 8803134 8803134 G A SNP MFAP5 ENST00000359478 human ensembl 74_37 -1 known missense c.299 p.P100L 0.973 pfam_MAGP pfam_MAGP - no_errors MFAP5 HGNC ENSG00000197614 85 0 0 53 9 14.5161 CEP290 0 genome.wustl.edu 37 12 88478558 88478558 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 88478558 88478558 A G SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known silent c.4515 p.N1505 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 62 0 0 23 4 14.8148 A2ML1 0 genome.wustl.edu 37 12 8988128 8988128 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 8988128 8988128 A C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.509 p.Q170P 0.995 pfam_A2M_N pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 187 0 0 59 5 7.8125 ATP2B1 0 genome.wustl.edu 37 12 90028814 90028814 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 90028814 90028814 T C SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known silent c.621 p.V207 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 152 0 0 86 12 12.2449 PLXNC1 0 genome.wustl.edu 37 12 94648663 94648663 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 94648663 94648663 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.2982 p.D994 0.042 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 40 0 0 12 3 20 TMPO 0 genome.wustl.edu 37 12 98927810 98927810 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 98927810 98927810 C A SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.1775 p.A592D 0.998 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 52 0 0 40 4 9.09091 APAF1 0 genome.wustl.edu 37 12 99102474 99102474 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 99102474 99102474 C T SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.2833 p.R945C 0.062 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 44 0 0 18 5 21.7391 FAM155A 0 genome.wustl.edu 37 13 108518597 108518597 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 108518597 108518597 G A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known silent c.348 p.A116 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 30 0 0 10 4 28.5714 PROZ 0 genome.wustl.edu 37 13 113818958 113818958 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 113818958 113818958 G A SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.505 p.D169N 0.913 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 51 0 0 24 5 17.2414 TUBA3C 0 genome.wustl.edu 37 13 19751314 19751314 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 19751314 19751314 G A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.809 p.A270V 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 290 0 0 123 11 8.20896 MTUS2 0 genome.wustl.edu 37 13 29600969 29600969 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 29600969 29600969 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2164 p.G722R 0.966 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 95 0 0 32 15 31.9149 VWA8 0 genome.wustl.edu 37 13 42144798 42144798 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 42144798 42144798 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.5415 p.T1805 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 109 0 0 51 9 15 EPSTI1 0 genome.wustl.edu 37 13 43544769 43544769 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 43544769 43544769 G A SNP EPSTI1 ENST00000313640 human ensembl 74_37 -1 known missense c.226 p.R76W 0.892 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 219 0 0 64 21 24.7059 PCDH17 0 genome.wustl.edu 37 13 58207391 58207391 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 58207391 58207391 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.711 p.N237 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 105 0 0 40 17 29.8246 TBC1D4 0 genome.wustl.edu 37 13 76055542 76055542 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 76055542 76055542 T C SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.362 p.H121R 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 221 0 0 62 6 8.82353 SLITRK5 0 genome.wustl.edu 37 13 88328684 88328684 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 88328684 88328684 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1041 p.R347 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 186 0 0 59 42 41.5842 ABCC4 0 genome.wustl.edu 37 13 95726498 95726498 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 95726498 95726498 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.2887 p.V963I 0.235 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 61 0 0 19 5 20.8333 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 149 0 0 46 29 38.6667 KIF26A 0 genome.wustl.edu 37 14 104642480 104642480 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 104642480 104642480 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.3355 p.V1119I 0.970 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 15 0 0 6 3 33.3333 AHNAK2 0 genome.wustl.edu 37 14 105407181 105407181 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 105407181 105407181 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.14607 p.K4869 0.898 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 56 0 0 24 6 20 AHNAK2 0 genome.wustl.edu 37 14 105413931 105413931 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 105413931 105413931 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7857 p.Q2619H 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 474 0 0 173 44 20.2765 MTA1 0 genome.wustl.edu 37 14 105936409 105936409 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 105936409 105936409 C T SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.2005 p.R669C 1.000 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 144 0 0 18 14 43.75 C14orf80 0 genome.wustl.edu 37 14 105958492 105958492 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 105958492 105958492 C T SNP C14orf80 ENST00000548920 human ensembl 74_37 +1 known nonsense c.217 p.R73* 0.434 NULL NULL - no_errors C14orf80 HGNC ENSG00000185347 55 0 0 17 5 22.7273 OR4Q3 0 genome.wustl.edu 37 14 20215900 20215900 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 20215900 20215900 T G SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.314 p.L105R 0.805 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 OR4Q3 HGNC ENSG00000182652 58 0 0 32 6 15.7895 OR4K2 0 genome.wustl.edu 37 14 20344817 20344817 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 20344817 20344817 C T SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.391 p.H131Y 0.089 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 OR4K2 HGNC ENSG00000165762 244 0 0 119 26 17.931 ACIN1 0 genome.wustl.edu 37 14 23530554 23530554 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 23530554 23530554 C A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.3551 p.R1184L 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 212 0 0 90 20 18.1818 PCK2 0 genome.wustl.edu 37 14 24567797 24567797 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 24567797 24567797 A G SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.574 p.T192A 1.000 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 82 0 0 28 2 6.66667 CIDEB 0 genome.wustl.edu 37 14 24775286 24775286 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 24775286 24775286 C T SNP CIDEB ENST00000258807 human ensembl 74_37 -1 known missense c.394 p.A132T 1.000 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEB HGNC ENSG00000136305 159 0 0 73 7 8.75 CTAGE5 0 genome.wustl.edu 37 14 39815175 39815175 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 39815175 39815175 A T SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.1914 p.R638S 0.979 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 146 0 0 59 18 23.3766 MIS18BP1 0 genome.wustl.edu 37 14 45711523 45711523 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 45711523 45711523 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.857 p.E286G 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 139 0 0 67 15 18.2927 SOS2 0 genome.wustl.edu 37 14 50666416 50666416 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 50666416 50666416 G A SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.503 p.A168V 1.000 pfam_Histone_core_D,superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 83 0 0 42 8 16 PTGDR 0 genome.wustl.edu 37 14 52735102 52735102 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 52735102 52735102 G A SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known silent c.570 p.E190 0.853 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 170 0 0 64 8 11.1111 PTGER2 0 genome.wustl.edu 37 14 52781549 52781549 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 52781549 52781549 C T SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.283 p.R95W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 81 0 0 41 6 12.766 DDHD1 0 genome.wustl.edu 37 14 53539354 53539354 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 53539354 53539354 C A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1464 p.M488I 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 55 0 0 34 6 15 JKAMP 0 genome.wustl.edu 37 14 59954419 59954419 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 59954419 59954419 G A SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.148 p.A50T 0.979 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 313 0 0 144 27 15.7895 SYNE2 0 genome.wustl.edu 37 14 64632037 64632037 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 64632037 64632037 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.16514 p.R5505Q 0.001 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 120 0 0 51 11 17.7419 GALNT16 0 genome.wustl.edu 37 14 69798192 69798192 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 69798192 69798192 C T SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.702 p.R234 0.004 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 216 0 0 134 28 17.284 C14orf169 0 genome.wustl.edu 37 14 73959112 73959112 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 73959112 73959112 C T SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C14orf169 HGNC ENSG00000255242 67 0 0 40 10 20 LTBP2 0 genome.wustl.edu 37 14 74969585 74969585 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 74969585 74969585 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.4941 p.A1647 0.790 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 167 0 0 61 11 15.2778 LTBP2 0 genome.wustl.edu 37 14 74995322 74995322 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 74995322 74995322 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.2232 p.A744 0.008 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 129 0 0 67 8 10.6667 AREL1 0 genome.wustl.edu 37 14 75130503 75130503 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 75130503 75130503 T C SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.2392 p.T798A 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 297 0 0 99 15 13.1579 TMEM63C 0 genome.wustl.edu 37 14 77706903 77706903 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 77706903 77706903 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known missense c.1016 p.R339Q 1.000 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 53 0 0 17 3 15 ISM2 0 genome.wustl.edu 37 14 77948722 77948722 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 77948722 77948722 A G SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.916 p.W306R 0.434 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 117 0 0 39 12 23.5294 FLRT2 0 genome.wustl.edu 37 14 86089442 86089442 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 86089442 86089442 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.1584 p.S528 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 253 0 0 94 10 9.61538 CCDC88C 0 genome.wustl.edu 37 14 91760652 91760652 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 91760652 91760652 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.3977 p.R1326H 0.993 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 69 0 0 31 12 27.907 SLC24A4 0 genome.wustl.edu 37 14 92790234 92790234 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 92790234 92790234 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known silent c.60 p.P20 0.999 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 51 0 0 9 4 30.7692 SERPINA6 0 genome.wustl.edu 37 14 94770841 94770841 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 94770841 94770841 G A SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.1132 p.R378C 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 132 0 0 42 10 19.2308 SERPINA6 0 genome.wustl.edu 37 14 94772522 94772522 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 94772522 94772522 G T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known silent c.918 p.I306 0.213 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 96 0 0 40 9 18.3673 DICER1 0 genome.wustl.edu 37 14 95569709 95569709 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 95569709 95569709 G A SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4024 p.R1342C 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 166 0 0 70 16 18.6047 HERC2P3 0 genome.wustl.edu 37 15 20643871 20643871 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 20643871 20643871 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors HERC2P3 HGNC ENSG00000180229 208 0 0 120 8 6.25 OR4M2 0 genome.wustl.edu 37 15 22369389 22369389 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 22369389 22369389 G T SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.814 p.V272L 0.545 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 OR4M2 HGNC ENSG00000182974 270 0 0 149 14 8.58896 FAN1 0 genome.wustl.edu 37 15 31202890 31202890 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 31202890 31202890 C A SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known silent c.1449 p.T483 0.996 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 157 0 0 59 10 14.4928 TRPM1 0 genome.wustl.edu 37 15 31332390 31332390 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 31332390 31332390 G T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.2298 p.T766 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 170 1 0.584795 59 4 6.34921 RYR3 0 genome.wustl.edu 37 15 34030749 34030749 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 34030749 34030749 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.7614 p.T2538 0.001 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 124 0 0 42 8 16 IVD 0 genome.wustl.edu 37 15 40708280 40708280 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 40708280 40708280 A G SNP IVD ENST00000487418 human ensembl 74_37 +1 known missense c.973 p.M325V 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 77 0 0 17 8 32 CASC5 0 genome.wustl.edu 37 15 40912959 40912959 + Nonsense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 40912959 40912959 T A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known nonsense c.575 p.L192* 0.002 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 134 0 0 60 13 17.8082 CASC5 0 genome.wustl.edu 37 15 40914465 40914465 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 40914465 40914465 C A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2081 p.T694K 0.004 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 155 0 0 67 12 15.1899 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42138489 42138489 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 42138489 42138489 G T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2382 p.W794C 0.878 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 221 0 0 78 17 17.8947 EHD4 0 genome.wustl.edu 37 15 42211660 42211660 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 42211660 42211660 G A SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.672 p.A224 0.224 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 75 0 0 43 6 12.2449 ZNF106 0 genome.wustl.edu 37 15 42743852 42743852 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 42743852 42743852 A G SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known silent c.549 p.G183 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 181 0 0 80 14 14.8936 MAP1A 0 genome.wustl.edu 37 15 43820988 43820988 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 43820988 43820988 T C SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.7317 p.T2439 0.996 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 76 0 0 37 14 27.451 GLDN 0 genome.wustl.edu 37 15 51696856 51696856 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 51696856 51696856 G T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.1561 p.A521S 0.668 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 245 0 0 120 21 14.8936 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL 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 117 0 0 29 24 45.283 TMOD3 0 genome.wustl.edu 37 15 52161500 52161500 + Silent SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 52161500 52161500 A T SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known silent c.213 p.S71 0.004 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 196 0 0 86 12 12.2449 ONECUT1 0 genome.wustl.edu 37 15 53049924 53049924 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 53049924 53049924 C T SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 234 0 0 117 20 14.5985 ONECUT1 0 genome.wustl.edu 37 15 53049957 53049957 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 53049957 53049957 C T SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.1193 p.R398Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 285 0 0 141 21 12.963 PRTG 0 genome.wustl.edu 37 15 55912281 55912281 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 55912281 55912281 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.3382 p.R1128W 0.999 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 144 0 0 55 12 17.9104 FOXB1 0 genome.wustl.edu 37 15 60297516 60297516 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 60297516 60297516 G A SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known silent c.354 p.A118 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 46 0 0 19 5 20.8333 ANXA2 0 genome.wustl.edu 37 15 60641281 60641281 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 60641281 60641281 T A SNP ANXA2 ENST00000332680 human ensembl 74_37 -1 known missense c.1007 p.Y336F 1.000 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 80 0 0 42 5 10.6383 HERC1 0 genome.wustl.edu 37 15 63984660 63984660 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 63984660 63984660 G T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.5780 p.P1927Q 1.000 superfamily_ARM-type_fold pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 124 0 0 45 6 11.7647 DPP8 0 genome.wustl.edu 37 15 65793059 65793059 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 65793059 65793059 C T SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.479 p.R160H 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 226 0 0 133 23 14.7436 NOX5 0 genome.wustl.edu 37 15 69347808 69347808 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 69347808 69347808 C T SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.2134 p.R712C 0.367 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 77 0 0 35 5 12.5 LOXL1 0 genome.wustl.edu 37 15 74219771 74219771 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 74219771 74219771 C G SNP LOXL1 ENST00000261921 human ensembl 74_37 +1 known missense c.647 p.A216G 0.706 NULL pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 28 0 0 1 4 80 SEMA7A 0 genome.wustl.edu 37 15 74702973 74702973 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 74702973 74702973 C A SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.1993 p.V665F 0.925 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 210 0 0 63 12 16 C15orf37 0 genome.wustl.edu 37 15 80215370 80215370 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 80215370 80215370 C A SNP C15orf37 ENST00000560255 human ensembl 74_37 +1 known silent c.255 p.A85 0.006 NULL NULL - no_errors C15orf37 HGNC ENSG00000259642 60 0 0 17 6 26.087 ADAMTSL3 0 genome.wustl.edu 37 15 84651707 84651707 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 84651707 84651707 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.3327 p.T1109 0.000 NULL 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 130 0 0 55 7 11.2903 POLG 0 genome.wustl.edu 37 15 89864210 89864210 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 89864210 89864210 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.2768 p.G923D 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 163 0 0 71 13 15.4762 ENSG00000221309 0 genome.wustl.edu 37 15 90838291 90838291 + RNA SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 90838291 90838291 C A SNP ENSG00000221309 ENST00000408382 human ensembl 74_37 +1 novel rna NULL NULL 0.049 - - - no_errors AC091167.1 Clone_based_ensembl_gene ENSG00000221309 60 0 0 24 4 14.2857 FES 0 genome.wustl.edu 37 15 91432867 91432867 + Splice_Site SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 91432867 91432867 G A SNP FES ENST00000328850 human ensembl 74_37 +1 known splice_site c.926+1 e6+1 1.000 - - - no_errors FES HGNC ENSG00000182511 213 0 0 79 23 22.549 CACNA1H 0 genome.wustl.edu 37 16 1257285 1257285 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 1257285 1257285 A G SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.2918 p.Q973R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 21 0 0 13 5 27.7778 TPSD1 0 genome.wustl.edu 37 16 1306523 1306523 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 1306523 1306523 G T SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known missense c.89 p.G30V 0.014 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 140 0 0 45 6 11.7647 TPSD1 0 genome.wustl.edu 37 16 1306674 1306674 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 1306674 1306674 G A SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known silent c.240 p.A80 0.442 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 116 0 0 40 8 16.6667 MKL2 0 genome.wustl.edu 37 16 14341277 14341277 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 14341277 14341277 G A SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known silent c.2127 p.T709 0.073 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 47 0 0 18 5 21.7391 NOMO1 0 genome.wustl.edu 37 16 14932348 14932348 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 14932348 14932348 G T SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.250 p.D84Y 1.000 superfamily_Collagen-bd_Cna_B-typ_dom pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 246 0 0 124 25 16.7785 IFT140 0 genome.wustl.edu 37 16 1616233 1616233 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 1616233 1616233 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known silent c.1830 p.T610 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 299 0 0 115 30 20.6897 IGFALS 0 genome.wustl.edu 37 16 1841073 1841073 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 1841073 1841073 A G SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1460 p.L487P 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 51 0 0 15 10 40 NTHL1 0 genome.wustl.edu 37 16 2090230 2090230 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2090230 2090230 G A SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.719 p.T240M 1.000 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 254 0 0 100 7 6.54206 TSC2 0 genome.wustl.edu 37 16 2124276 2124276 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2124276 2124276 T C SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.2431 p.C811R 1.000 pfam_Tuberin-type_domain pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 110 0 0 36 8 18.1818 CRYM 0 genome.wustl.edu 37 16 21278978 21278978 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 21278978 21278978 C T SNP CRYM ENST00000219599 human ensembl 74_37 -1 known silent c.570 p.S190 0.003 pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd - no_errors CRYM HGNC ENSG00000103316 127 0 0 51 6 10.5263 PKD1 0 genome.wustl.edu 37 16 2159842 2159842 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2159842 2159842 G T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.5326 p.L1776M 0.002 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 78 0 0 28 4 12.5 PKD1 0 genome.wustl.edu 37 16 2162823 2162823 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2162823 2162823 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3127 p.V1043M 0.982 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 69 0 0 32 6 15.7895 CASKIN1 0 genome.wustl.edu 37 16 2231518 2231518 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2231518 2231518 G T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known silent c.1851 p.P617 0.994 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 30 0 0 13 3 18.75 HS3ST2 0 genome.wustl.edu 37 16 22826339 22826339 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 22826339 22826339 A G SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.408 p.V136 0.997 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 83 0 0 23 4 14.8148 E4F1 0 genome.wustl.edu 37 16 2285285 2285285 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 2285285 2285285 C T SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.2067 p.I689 0.302 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 171 0 0 59 13 18.0556 EARS2 0 genome.wustl.edu 37 16 23544081 23544081 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 23544081 23544081 G T SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known missense c.964 p.Q322K 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 37 0 0 21 3 12.5 ARHGAP17 0 genome.wustl.edu 37 16 24950837 24950837 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 24950837 24950837 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known silent c.1572 p.Q524 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 27 0 0 9 3 25 GTF3C1 0 genome.wustl.edu 37 16 27497443 27497443 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 27497443 27497443 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3733 p.R1245C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 410 0 0 166 31 15.736 ZNF48 0 genome.wustl.edu 37 16 30410362 30410362 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 30410362 30410362 G A SNP ZNF48 ENST00000320159 human ensembl 74_37 +1 known silent c.1791 p.T597 0.409 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 186 0 0 60 13 17.8082 ZNF629 0 genome.wustl.edu 37 16 30794106 30794106 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 30794106 30794106 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1543 p.V515M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 110 1 0.900901 41 6 12.766 ZNF205 0 genome.wustl.edu 37 16 3170202 3170202 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3170202 3170202 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.1541 p.S514N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZNF205 HGNC ENSG00000122386 85 0 0 30 12 28.5714 ZNF213 0 genome.wustl.edu 37 16 3187610 3187610 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3187610 3187610 C T SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.329 p.P110L 0.163 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 92 0 0 26 3 10.3448 ARHGDIG 0 genome.wustl.edu 37 16 332056 332056 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 332056 332056 G A SNP ARHGDIG ENST00000219409 human ensembl 74_37 +1 known silent c.285 p.R95 0.350 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIG HGNC ENSG00000242173 219 0 0 73 8 9.87654 LOC283914 0 genome.wustl.edu 37 16 34624132 34624132 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 34624132 34624132 C T SNP LOC283914 ENST00000569242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-488I20.3 Clone_based_vega_gene ENSG00000259841 9 0 0 3 2 40 TRAP1 0 genome.wustl.edu 37 16 3740886 3740886 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3740886 3740886 G A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known silent c.189 p.T63 0.049 NULL pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 81 0 0 45 11 19.6429 CREBBP 0 genome.wustl.edu 37 16 3790494 3790494 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3790494 3790494 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4039 p.R1347W 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 93 0 0 53 9 14.5161 CREBBP 0 genome.wustl.edu 37 16 3823777 3823777 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3823777 3823777 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2438 p.P813L 0.994 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 101 0 0 41 11 21.1538 ZNF423 0 genome.wustl.edu 37 16 49764857 49764857 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 49764857 49764857 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.102 p.C34 0.897 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 367 1 0.271739 138 26 15.8537 PAPD5 0 genome.wustl.edu 37 16 50263298 50263298 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 50263298 50263298 C T SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors PAPD5 HGNC ENSG00000121274 36 0 0 21 4 16 CYLD 0 genome.wustl.edu 37 16 50813710 50813710 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 50813710 50813710 A G SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.1273 p.K425E 0.970 NULL pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 290 1 0.343643 121 31 20.3947 CHD9 0 genome.wustl.edu 37 16 53276823 53276823 + Nonsense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 53276823 53276823 T A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known nonsense c.2949 p.C983* 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 295 0 0 115 23 16.6667 NUDT21 0 genome.wustl.edu 37 16 56485037 56485037 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 56485037 56485037 C T SNP NUDT21 ENST00000300291 human ensembl 74_37 -1 known silent c.78 p.Q26 1.000 pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 307 0 0 92 18 16.3636 NUP93 0 genome.wustl.edu 37 16 56864565 56864565 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 56864565 56864565 G A SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known nonsense c.1053 p.W351* 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 129 0 0 55 13 19.1176 SLC12A3 0 genome.wustl.edu 37 16 56906652 56906652 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 56906652 56906652 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.1049 p.S350L 0.989 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 133 0 0 47 11 18.9655 CCL22 0 genome.wustl.edu 37 16 57394460 57394460 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 57394460 57394460 G T SNP CCL22 ENST00000219235 human ensembl 74_37 +1 known missense c.185 p.R62M 0.701 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL22 HGNC ENSG00000102962 124 0 0 36 13 26.5306 KATNB1 0 genome.wustl.edu 37 16 57789377 57789377 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 57789377 57789377 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1537 p.R513W 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 202 0 0 67 9 11.8421 TEPP 0 genome.wustl.edu 37 16 58019155 58019155 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 58019155 58019155 T C SNP TEPP ENST00000290871 human ensembl 74_37 +1 known missense c.671 p.V224A 0.847 NULL NULL - no_errors TEPP HGNC ENSG00000159648 26 0 0 15 3 16.6667 FBXL8 0 genome.wustl.edu 37 16 67197644 67197644 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67197644 67197644 C T SNP FBXL8 ENST00000258200 human ensembl 74_37 +1 known missense c.1046 p.A349V 0.743 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL8 HGNC ENSG00000135722 41 0 0 21 7 25 ACD 0 genome.wustl.edu 37 16 67691945 67691945 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67691945 67691945 G A SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.1408 p.P470S 0.013 NULL NULL - no_errors ACD HGNC ENSG00000102977 106 0 0 36 7 16.2791 ENKD1 0 genome.wustl.edu 37 16 67699037 67699037 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67699037 67699037 C T SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known silent c.315 p.L105 0.493 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 502 0 0 180 28 13.4615 C16orf86 0 genome.wustl.edu 37 16 67701280 67701280 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67701280 67701280 G A SNP C16orf86 ENST00000403458 human ensembl 74_37 +1 known missense c.184 p.A62T 0.000 NULL NULL - no_errors C16orf86 HGNC ENSG00000159761 65 0 0 17 9 34.6154 ENSG00000263126 0 genome.wustl.edu 37 16 67918083 67918083 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67918083 67918083 G A SNP ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.964 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 19 0 0 9 3 25 ESRP2 0 genome.wustl.edu 37 16 68265946 68265946 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 68265946 68265946 C T SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.1088 p.R363Q 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 87 0 0 30 5 14.2857 WFIKKN1 0 genome.wustl.edu 37 16 682785 682785 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 682785 682785 C T SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.375 p.S125 1.000 pfam_Kazal_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 72 0 0 27 5 15.625 SNTB2 0 genome.wustl.edu 37 16 69334794 69334794 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 69334794 69334794 G A SNP SNTB2 ENST00000336278 human ensembl 74_37 +1 known silent c.1590 p.S530 0.146 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 86 0 0 40 11 21.5686 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 119 0 0 50 18 26.4706 AP1G1 0 genome.wustl.edu 37 16 71779115 71779115 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 71779115 71779115 G A SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known missense c.2000 p.A667V 1.000 pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 81 0 0 45 10 18.1818 ATMIN 0 genome.wustl.edu 37 16 81078429 81078429 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 81078429 81078429 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.2326 p.G776R 1.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 143 0 0 65 24 26.9663 CDH13 0 genome.wustl.edu 37 16 83378583 83378583 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 83378583 83378583 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known silent c.753 p.I251 0.023 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 171 0 0 72 11 13.253 KLHL36 0 genome.wustl.edu 37 16 84684525 84684525 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 84684525 84684525 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.52 p.E18K 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 116 0 0 45 9 16.6667 FOXF1 0 genome.wustl.edu 37 16 86544715 86544715 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 86544715 86544715 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known silent c.540 p.S180 0.957 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 59 0 0 20 4 16.6667 CDK10 0 genome.wustl.edu 37 16 89757893 89757893 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 89757893 89757893 G A SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known missense c.275 p.R92H 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK10 HGNC ENSG00000185324 55 0 0 17 2 10.5263 MYH13 0 genome.wustl.edu 37 17 10258072 10258072 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 10258072 10258072 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.930 p.F310 0.989 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,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 129 0 0 39 7 15.2174 MYH8 0 genome.wustl.edu 37 17 10296236 10296236 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 10296236 10296236 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.5375 p.T1792M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 278 0 0 136 21 13.3758 MYH1 0 genome.wustl.edu 37 17 10404747 10404747 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 10404747 10404747 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3418 p.R1140C 1.000 pfam_Myosin_tail 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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 174 0 0 72 10 12.1951 MYH2 0 genome.wustl.edu 37 17 10441021 10441021 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 10441021 10441021 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.1548 p.F516 0.985 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 297 0 0 123 26 17.4497 DNAH9 0 genome.wustl.edu 37 17 11775053 11775053 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 11775053 11775053 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10192 p.R3398W 0.998 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 236 1 0.421941 89 19 17.5926 TEKT3 0 genome.wustl.edu 37 17 15212047 15212047 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 15212047 15212047 T C SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known missense c.1190 p.Q397R 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 151 0 0 69 13 15.8537 PEMT 0 genome.wustl.edu 37 17 17412839 17412839 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 17412839 17412839 T C SNP PEMT ENST00000255389 human ensembl 74_37 -1 known missense c.487 p.K163E 1.000 pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP - no_errors PEMT HGNC ENSG00000133027 137 0 0 61 4 6.15385 TOM1L2 0 genome.wustl.edu 37 17 17788064 17788064 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 17788064 17788064 G A SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known nonsense c.385 p.R129* 0.997 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 252 1 0.395257 79 20 20.202 MYO15A 0 genome.wustl.edu 37 17 18058634 18058634 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 18058634 18058634 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8347 p.V2783M 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 123 1 0.806452 49 10 16.9492 LGALS9B 0 genome.wustl.edu 37 17 20354904 20354904 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 20354904 20354904 G A SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.814 p.R272C 0.946 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 139 0 0 70 10 12.5 LOC440416 0 genome.wustl.edu 37 17 20805631 20805631 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 20805631 20805631 G A SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 171 1 0.581395 67 24 26.3736 DHRS7B 0 genome.wustl.edu 37 17 21087756 21087756 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 21087756 21087756 G A SNP DHRS7B ENST00000395511 human ensembl 74_37 +1 known missense c.599 p.S200N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 140 0 0 44 15 25.4237 FAM27L 0 genome.wustl.edu 37 17 21825448 21825448 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 21825448 21825448 C T SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors FAM27L HGNC ENSG00000178130 78 0 0 22 5 18.5185 SMG6 0 genome.wustl.edu 37 17 2202634 2202634 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 2202634 2202634 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.1413 p.T471 0.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 413 0 0 172 29 14.4279 POLDIP2 0 genome.wustl.edu 37 17 26680011 26680011 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 26680011 26680011 G T SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known silent c.546 p.P182 1.000 superfamily_Hemimethylated_DNA-bd_dom pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 62 0 0 16 3 15.7895 SEZ6 0 genome.wustl.edu 37 17 27287983 27287983 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 27287983 27287983 C T SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known missense c.1249 p.G417S 1.000 pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 267 0 0 75 15 16.6667 ABHD15 0 genome.wustl.edu 37 17 27889934 27889934 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 27889934 27889934 G T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.1052 p.P351H 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 140 0 0 40 10 20 SSH2 0 genome.wustl.edu 37 17 27994231 27994231 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 27994231 27994231 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.739 p.R247C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 54 0 0 32 5 13.5135 GAS2L2 0 genome.wustl.edu 37 17 34077256 34077256 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 34077256 34077256 C T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.467 p.R156H 0.999 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 532 0 0 144 32 18.1818 ACACA 0 genome.wustl.edu 37 17 35478397 35478397 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 35478397 35478397 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.6154 p.G2052S 0.995 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 224 0 0 61 15 19.7368 ACACA 0 genome.wustl.edu 37 17 35614709 35614709 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 35614709 35614709 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.1742 p.A581V 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 106 0 0 55 9 14.0625 ITGAE 0 genome.wustl.edu 37 17 3657175 3657175 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 3657175 3657175 T C SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1429 p.I477V 0.005 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 110 0 0 38 7 15.5556 PNMT 0 genome.wustl.edu 37 17 37826401 37826401 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 37826401 37826401 C T SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.608 p.T203M 0.723 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 43 0 0 22 8 26.6667 ATP2A3 0 genome.wustl.edu 37 17 3850715 3850715 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 3850715 3850715 C T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known silent c.1065 p.T355 0.168 prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 134 0 0 35 11 23.913 ATP2A3 0 genome.wustl.edu 37 17 3854611 3854611 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 3854611 3854611 C A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.397 p.D133Y 0.988 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 114 0 0 27 6 18.1818 KRT16 0 genome.wustl.edu 37 17 39767342 39767342 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 39767342 39767342 A G SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known silent c.912 p.A304 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 370 0 0 139 26 15.7576 HDAC5 0 genome.wustl.edu 37 17 42165936 42165936 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 42165936 42165936 G A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.1421 p.T474M 0.998 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 67 0 0 18 4 18.1818 GPATCH8 0 genome.wustl.edu 37 17 42513884 42513884 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 42513884 42513884 T C SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.223 p.K75E 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 110 0 0 56 6 9.67742 FZD2 0 genome.wustl.edu 37 17 42635443 42635443 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 42635443 42635443 T C SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.387 p.G129 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 166 0 0 63 5 7.35294 ACBD4 0 genome.wustl.edu 37 17 43221001 43221001 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 43221001 43221001 G T SNP ACBD4 ENST00000431281 human ensembl 74_37 +1 known missense c.1019 p.R340M 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 80 0 0 44 8 15.3846 FMNL1 0 genome.wustl.edu 37 17 43321564 43321564 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 43321564 43321564 G A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.2470 p.A824T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 39 0 0 11 6 35.2941 MYBBP1A 0 genome.wustl.edu 37 17 4446270 4446270 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 4446270 4446270 G A SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2830 p.H944Y 0.000 superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 239 0 0 89 17 16.0377 PELP1 0 genome.wustl.edu 37 17 4576294 4576294 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 4576294 4576294 C T SNP PELP1 ENST00000269230 human ensembl 74_37 -1 known missense c.1724 p.R575H 0.650 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 116 0 0 28 5 15.1515 ZMYND15 0 genome.wustl.edu 37 17 4647919 4647919 + Splice_Site SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 4647919 4647919 G T SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known splice_site c.1684-1 e10-1 0.996 - - - no_errors ZMYND15 HGNC ENSG00000141497 213 0 0 79 22 21.7822 DLX3 0 genome.wustl.edu 37 17 48072218 48072218 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 48072218 48072218 C T SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.145 p.D49N 1.000 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 188 0 0 60 9 13.0435 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 54 0 0 13 11 45.8333 CAMTA2 0 genome.wustl.edu 37 17 4875560 4875560 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 4875560 4875560 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.2844 p.D948 0.003 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 225 1 0.442478 66 13 16.4557 NUP88 0 genome.wustl.edu 37 17 5314064 5314064 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 5314064 5314064 T C SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.639 p.I213M 0.165 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 338 0 0 155 12 7.18563 LPO 0 genome.wustl.edu 37 17 56329565 56329565 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 56329565 56329565 C T SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.803 p.A268V 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 113 0 0 34 4 10.5263 MTMR4 0 genome.wustl.edu 37 17 56585898 56585898 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 56585898 56585898 G A SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.482 p.A161V 0.999 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 126 0 0 46 8 14.8148 DHX40 0 genome.wustl.edu 37 17 57679954 57679954 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 57679954 57679954 C T SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known silent c.1878 p.G626 0.989 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 80 0 0 44 8 15.3846 BCAS3 0 genome.wustl.edu 37 17 58786631 58786631 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 58786631 58786631 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.266 p.P89L 0.997 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 114 0 0 51 5 8.92857 PLEKHM1P 0 genome.wustl.edu 37 17 62788490 62788490 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 62788490 62788490 G A SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PLEKHM1P HGNC ENSG00000214176 102 0 0 33 5 13.1579 NOL11 0 genome.wustl.edu 37 17 65720271 65720271 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 65720271 65720271 C T SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known missense c.626 p.A209V 0.998 pfam_NUC205 pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 55 0 0 31 5 13.8889 BPTF 0 genome.wustl.edu 37 17 65942195 65942195 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 65942195 65942195 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.7749 p.Q2583H 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 93 0 0 41 13 24.0741 ELP5 0 genome.wustl.edu 37 17 7158035 7158035 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7158035 7158035 G A SNP ELP5 ENST00000354429 human ensembl 74_37 +1 known missense c.370 p.D124N 0.992 pfam_Elp5 pfam_Elp5 - no_errors ELP5 HGNC ENSG00000170291 114 0 0 53 9 14.5161 SLC2A4 0 genome.wustl.edu 37 17 7186563 7186563 + Splice_Site SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7186563 7186563 G T SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known splice_site c.34-1 e2-1 1.000 - - - no_errors SLC2A4 HGNC ENSG00000181856 267 0 0 107 27 20.1493 C17orf77 0 genome.wustl.edu 37 17 72588709 72588709 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 72588709 72588709 C T SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known missense c.524 p.T175M 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 68 0 0 30 4 11.7647 NLGN2 0 genome.wustl.edu 37 17 7319189 7319189 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7319189 7319189 C T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1397 p.A466V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 88 0 0 39 7 15.2174 GGA3 0 genome.wustl.edu 37 17 73235131 73235131 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 73235131 73235131 T G SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1814 p.N605T 0.999 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 93 0 0 25 8 24.2424 GGA3 0 genome.wustl.edu 37 17 73237561 73237561 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 73237561 73237561 A G SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.866 p.V289A 1.000 pfam_GAT,pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 243 0 0 150 23 13.2948 CHRNB1 0 genome.wustl.edu 37 17 7351982 7351982 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7351982 7351982 G A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.695 p.R232H 0.016 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 100 0 0 31 5 13.8889 ITGB4 0 genome.wustl.edu 37 17 73748326 73748326 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 73748326 73748326 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.3865 p.R1289W 0.997 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 411 0 0 133 38 22.2222 FBF1 0 genome.wustl.edu 37 17 73922938 73922938 + Nonsense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 73922938 73922938 C A SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known nonsense c.454 p.G152* 1.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 33 0 0 11 4 26.6667 GALR2 0 genome.wustl.edu 37 17 74071298 74071298 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 74071298 74071298 A G SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.334 p.S112G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 96 0 0 39 9 18.75 RHBDF2 0 genome.wustl.edu 37 17 74475291 74475291 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 74475291 74475291 C T SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known missense c.428 p.S143N 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 50 0 0 19 5 20.8333 TMC8 0 genome.wustl.edu 37 17 76137013 76137013 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 76137013 76137013 A T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.2001 p.Q667H 0.014 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 25 0 0 5 3 37.5 AFMID 0 genome.wustl.edu 37 17 76203090 76203090 + Nonstop_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 76203090 76203090 T G SNP AFMID ENST00000591952 human ensembl 74_37 +1 novel nonstop c.253 p.*85G 0.000 NULL NULL - no_errors AFMID HGNC ENSG00000183077 59 0 0 29 7 19.4444 LGALS3BP 0 genome.wustl.edu 37 17 76970808 76970808 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 76970808 76970808 C T SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known missense c.338 p.C113Y 0.995 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 64 0 0 18 9 33.3333 LSMD1 0 genome.wustl.edu 37 17 7760760 7760760 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7760760 7760760 T C SNP LSMD1 ENST00000335155 human ensembl 74_37 -1 known missense c.22 p.M8V 0.988 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSMD1 HGNC ENSG00000183011 111 0 0 52 9 14.7541 RNF213 0 genome.wustl.edu 37 17 78345759 78345759 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 78345759 78345759 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12511 p.Y4171H 0.928 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 64 0 0 20 5 20 CNTROB 0 genome.wustl.edu 37 17 7852792 7852792 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7852792 7852792 G A SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known silent c.2742 p.P914 0.000 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 114 0 0 52 9 14.7541 CCDC137 0 genome.wustl.edu 37 17 79634813 79634813 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 79634813 79634813 T C SNP CCDC137 ENST00000329214 human ensembl 74_37 +1 known silent c.189 p.I63 0.988 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 86 0 0 32 4 11.1111 ARHGEF15 0 genome.wustl.edu 37 17 8215445 8215445 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 8215445 8215445 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.88 p.A30T 0.111 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 221 0 0 79 12 13.1868 PIK3R5 0 genome.wustl.edu 37 17 8790929 8790929 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 8790929 8790929 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1688 p.R563Q 0.997 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 29 0 0 9 3 25 SEH1L 0 genome.wustl.edu 37 18 12951893 12951893 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 12951893 12951893 G A SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.151 p.A51T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 240 1 0.414938 98 20 16.9492 ZNF521 0 genome.wustl.edu 37 18 22806905 22806905 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 22806905 22806905 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.977 p.Y326C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 66 0 0 39 6 13.3333 SMCHD1 0 genome.wustl.edu 37 18 2700849 2700849 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 2700849 2700849 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.1580 p.T527M 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 156 0 0 54 10 15.625 GALNT1 0 genome.wustl.edu 37 18 33243730 33243730 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 33243730 33243730 C T SNP GALNT1 ENST00000269195 human ensembl 74_37 +1 known missense c.278 p.A93V 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 173 0 0 52 39 42.8571 DLGAP1 0 genome.wustl.edu 37 18 3879724 3879724 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 3879724 3879724 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known silent c.345 p.R115 0.024 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 181 1 0.549451 69 20 22.4719 SLC14A2 0 genome.wustl.edu 37 18 43253755 43253755 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 43253755 43253755 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known nonsense c.2485 p.Q829* 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 114 0 0 40 5 11.1111 SERPINB4 0 genome.wustl.edu 37 18 61306894 61306894 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 61306894 61306894 T C SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.586 p.K196E 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 94 0 0 25 10 28.5714 CDH7 0 genome.wustl.edu 37 18 63547708 63547708 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 63547708 63547708 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1936 p.I646V 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 92 0 0 32 8 20 CDH19 0 genome.wustl.edu 37 18 64235727 64235727 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 64235727 64235727 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.416 p.S139L 0.989 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 149 0 0 70 13 15.6627 NETO1 0 genome.wustl.edu 37 18 70450955 70450955 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 70450955 70450955 G A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known nonsense c.826 p.R276* 0.999 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 237 0 0 95 16 14.4144 MBP 0 genome.wustl.edu 37 18 74729219 74729219 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 74729219 74729219 C T SNP MBP ENST00000355994 human ensembl 74_37 -1 known missense c.145 p.A49T 1.000 NULL pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 88 0 0 35 4 10.2564 SOGA2 0 genome.wustl.edu 37 18 8825096 8825096 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 8825096 8825096 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.3588 p.P1196 0.251 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 116 0 0 68 7 9.33333 ICAM5 0 genome.wustl.edu 37 19 10404794 10404794 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 10404794 10404794 A G SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1790 p.E597G 0.993 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 301 0 0 104 6 5.45455 CDC37 0 genome.wustl.edu 37 19 10506724 10506724 + Silent SNP G G C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 10506724 10506724 G C SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known silent c.258 p.A86 0.182 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 307 1 0.324675 120 26 17.8082 YIPF2 0 genome.wustl.edu 37 19 11038348 11038348 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 11038348 11038348 G T SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known silent c.237 p.T79 0.992 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 126 0 0 49 6 10.9091 SMARCA4 0 genome.wustl.edu 37 19 11138595 11138595 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 11138595 11138595 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.3351 p.A1117 0.037 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 385 0 0 129 31 19.375 DOCK6 0 genome.wustl.edu 37 19 11352784 11352784 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 11352784 11352784 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1580 p.R527Q 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 29 0 0 8 2 20 ECSIT 0 genome.wustl.edu 37 19 11618782 11618782 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 11618782 11618782 C T SNP ECSIT ENST00000592312 human ensembl 74_37 -1 putative missense c.472 p.A158T 0.000 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 135 0 0 44 11 20 MAN2B1 0 genome.wustl.edu 37 19 12774530 12774530 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 12774530 12774530 C T SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known silent c.750 p.A250 0.004 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 27 0 0 18 5 21.7391 MAST1 0 genome.wustl.edu 37 19 12985409 12985409 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 12985409 12985409 T C SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.4438 p.W1480R 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 22 0 0 15 3 16.6667 PKN1 0 genome.wustl.edu 37 19 14574680 14574680 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 14574680 14574680 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.1554 p.V518 0.069 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 91 0 0 34 8 19.0476 EMR2 0 genome.wustl.edu 37 19 14854579 14854579 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 14854579 14854579 G A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.2201 p.A734V 0.920 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 143 0 0 58 5 7.93651 SLC1A6 0 genome.wustl.edu 37 19 15079275 15079275 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 15079275 15079275 G A SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.388 p.R130W 0.488 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 32 0 0 14 9 39.1304 BRD4 0 genome.wustl.edu 37 19 15383721 15383721 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 15383721 15383721 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known nonsense c.190 p.Q64* 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 214 0 0 51 14 21.5385 CYP4F3 0 genome.wustl.edu 37 19 15752261 15752261 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 15752261 15752261 G A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known nonsense c.36 p.W12* 0.001 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 165 0 0 49 9 15.5172 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 157 1 0.632911 49 32 39.5062 SIN3B 0 genome.wustl.edu 37 19 16976446 16976446 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 16976446 16976446 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1705 p.V569I 0.813 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 42 0 0 16 7 30.4348 USHBP1 0 genome.wustl.edu 37 19 17361173 17361173 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 17361173 17361173 C T SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.1973 p.R658H 0.956 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 153 0 0 45 12 21.0526 REXO1 0 genome.wustl.edu 37 19 1819962 1819962 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 1819962 1819962 A T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.2621 p.L874Q 0.707 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 82 0 0 20 3 13.0435 PIK3R2 0 genome.wustl.edu 37 19 18277076 18277076 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 18277076 18277076 G A SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1523 p.R508H 0.839 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 86 0 0 33 4 10.8108 KIAA1683 0 genome.wustl.edu 37 19 18376403 18376403 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 18376403 18376403 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.1947 p.V649 0.037 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 111 0 0 49 11 18.3333 MAU2 0 genome.wustl.edu 37 19 19431805 19431805 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 19431805 19431805 T C SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.137 p.L46P 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 25 0 0 11 3 21.4286 GNA11 0 genome.wustl.edu 37 19 3119273 3119273 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 3119273 3119273 G A SNP GNA11 ENST00000078429 human ensembl 74_37 +1 known missense c.805 p.V269I 0.999 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNA11 HGNC ENSG00000088256 189 0 0 85 9 9.57447 MIER2 0 genome.wustl.edu 37 19 327209 327209 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 327209 327209 C T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known silent c.417 p.T139 0.154 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 394 0 0 175 35 16.6667 RHPN2 0 genome.wustl.edu 37 19 33493301 33493301 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 33493301 33493301 C G SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.957 p.E319D 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 164 0 0 62 14 18.4211 LRP3 0 genome.wustl.edu 37 19 33697253 33697253 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 33697253 33697253 G A SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.1577 p.R526H 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 40 0 0 10 3 23.0769 KCTD15 0 genome.wustl.edu 37 19 34297878 34297878 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 34297878 34297878 G A SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.353 p.R118Q 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 175 0 0 60 16 21.0526 KCTD15 0 genome.wustl.edu 37 19 34302307 34302307 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 34302307 34302307 C T SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known silent c.543 p.I181 0.989 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 27 0 0 13 4 23.5294 FAM187B 0 genome.wustl.edu 37 19 35719411 35719411 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 35719411 35719411 C G SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.173 p.G58A 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 142 0 0 45 9 16.6667 LRFN3 0 genome.wustl.edu 37 19 36435744 36435744 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 36435744 36435744 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known silent c.1710 p.P570 0.005 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 46 0 0 29 7 19.4444 TJP3 0 genome.wustl.edu 37 19 3748014 3748014 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 3748014 3748014 G A SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2644 p.V882M 0.852 prints_ZonOcculdens pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 26 0 0 11 4 26.6667 ZNF793 0 genome.wustl.edu 37 19 38028433 38028433 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 38028433 38028433 C T SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known silent c.873 p.A291 0.969 smart_Znf_C2H2-like,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 ZNF793 HGNC ENSG00000188227 93 0 0 42 4 8.69565 PLD3 0 genome.wustl.edu 37 19 40877625 40877625 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 40877625 40877625 C T SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known nonsense c.724 p.R242* 0.103 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 62 0 0 21 4 16 MAP2K2 0 genome.wustl.edu 37 19 4117450 4117450 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 4117450 4117450 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known silent c.270 p.Q90 0.990 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 77 0 0 40 8 16.6667 NUMBL 0 genome.wustl.edu 37 19 41188832 41188832 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 41188832 41188832 G A SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known silent c.291 p.H97 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 193 0 0 61 13 17.5676 CYP2A7 0 genome.wustl.edu 37 19 41386388 41386388 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 41386388 41386388 C T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known silent c.489 p.T163 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 176 0 0 60 10 14.2857 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 241 1 0.413223 81 26 24.2991 MEGF8 0 genome.wustl.edu 37 19 42873057 42873057 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 42873057 42873057 T C SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.6544 p.C2182R 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 146 0 0 60 4 6.25 MPND 0 genome.wustl.edu 37 19 4357406 4357406 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 4357406 4357406 G A SNP MPND ENST00000262966 human ensembl 74_37 +1 known missense c.1153 p.A385T 0.998 NULL pfam_JAB_MPN_dom - no_errors MPND HGNC ENSG00000008382 61 0 0 24 6 20 PSG9 0 genome.wustl.edu 37 19 43772054 43772054 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 43772054 43772054 G A SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known silent c.312 p.N104 0.195 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 544 0 0 222 52 18.9781 CLASRP 0 genome.wustl.edu 37 19 45543570 45543570 + Splice_Site SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 45543570 45543570 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known splice_site c.99+1 e1+1 1.000 - - - no_errors CLASRP HGNC ENSG00000104859 28 0 0 9 3 25 GIPR 0 genome.wustl.edu 37 19 46180981 46180981 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 46180981 46180981 A G SNP GIPR ENST00000590918 human ensembl 74_37 +1 known missense c.868 p.N290D 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 354 0 0 128 15 10.4895 FOXA3 0 genome.wustl.edu 37 19 46375402 46375402 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 46375402 46375402 A G SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known missense c.139 p.S47G 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 179 0 0 69 4 5.47945 PNMAL2 0 genome.wustl.edu 37 19 46998569 46998569 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 46998569 46998569 G A SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known nonsense c.154 p.R52* 0.001 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 191 1 0.520833 75 15 16.6667 ARHGAP35 0 genome.wustl.edu 37 19 47425354 47425354 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 47425354 47425354 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.3422 p.S1141N 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 109 0 0 29 5 14.7059 ZC3H4 0 genome.wustl.edu 37 19 47572412 47572412 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 47572412 47572412 C G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.2335 p.E779Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 221 0 0 74 15 16.8539 GLTSCR1 0 genome.wustl.edu 37 19 48184029 48184029 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 48184029 48184029 C T SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known silent c.1602 p.S534 0.005 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 131 0 0 37 9 19.5652 KCNA7 0 genome.wustl.edu 37 19 49575417 49575417 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 49575417 49575417 C T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.426 p.A142 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 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_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 84 0 0 23 5 17.8571 SYT3 0 genome.wustl.edu 37 19 51129177 51129177 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 51129177 51129177 G A SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.1379 p.A460V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 52 0 0 16 3 15.7895 ACPT 0 genome.wustl.edu 37 19 51297840 51297840 + Splice_Site SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 51297840 51297840 T C SNP ACPT ENST00000270594 human ensembl 74_37 +1 known splice_site c.707+2 e7+2 0.997 - - - no_errors ACPT HGNC ENSG00000142513 58 0 0 29 4 12.1212 PPP2R1A 0 genome.wustl.edu 37 19 52725404 52725404 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 52725404 52725404 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1571 p.T524M 0.996 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 48 0 0 22 3 12 ZNF83 0 genome.wustl.edu 37 19 53117809 53117809 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 53117809 53117809 C A SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known silent c.9 p.G3 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 61 0 0 44 4 8.33333 ZNF665 0 genome.wustl.edu 37 19 53667933 53667933 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 53667933 53667933 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.1810 p.G604S 0.456 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZNF665 HGNC ENSG00000197497 190 0 0 88 13 12.8713 LILRB5 0 genome.wustl.edu 37 19 54754814 54754814 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 54754814 54754814 G T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known silent c.1821 p.L607 0.002 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 85 0 0 30 4 11.7647 LENG9 0 genome.wustl.edu 37 19 54973657 54973657 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 54973657 54973657 A G SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known silent c.1119 p.A373 0.731 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 171 0 0 57 8 12.3077 KIR2DL1 0 genome.wustl.edu 37 19 55286906 55286906 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 55286906 55286906 C T SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known silent c.660 p.V220 0.005 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 315 0 0 138 12 8 ENSG00000268678 0 genome.wustl.edu 37 19 57863135 57863135 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 57863135 57863135 G A SNP ENSG00000268678 ENST00000597973 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-444N24.13 Clone_based_vega_gene ENSG00000268678 46 0 0 26 8 23.5294 ZNF606 0 genome.wustl.edu 37 19 58490991 58490991 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 58490991 58490991 T C SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1057 p.I353V 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 153 0 0 63 21 25 GTF2F1 0 genome.wustl.edu 37 19 6380326 6380326 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 6380326 6380326 A C SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.1520 p.I507S 0.975 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 411 2 0.484262 155 32 17.1123 C3 0 genome.wustl.edu 37 19 6680187 6680187 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 6680187 6680187 A G SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.4438 p.Y1480H 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 153 0 0 67 15 18.2927 LRRC8E 0 genome.wustl.edu 37 19 7964276 7964276 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 7964276 7964276 C T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.869 p.T290M 0.942 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 62 0 0 34 8 19.0476 ACTL9 0 genome.wustl.edu 37 19 8808894 8808894 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 8808894 8808894 A T SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.158 p.V53D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 188 0 0 69 16 18.8235 MUC16 0 genome.wustl.edu 37 19 9060506 9060506 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 9060506 9060506 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.26940 p.S8980 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 315 0 0 143 36 20.1117 GRHL1 0 genome.wustl.edu 37 2 10136026 10136026 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 10136026 10136026 C A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.1519 p.P507T 0.992 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 406 0 0 140 40 22.2222 NPAS2 0 genome.wustl.edu 37 2 101594191 101594191 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 101594191 101594191 C T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.1607 p.S536L 0.007 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 150 0 0 51 5 8.92857 NCK2 0 genome.wustl.edu 37 2 106509597 106509597 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 106509597 106509597 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.1108 p.G370R 1.000 pirsf_Cytoplasmic_NCK,pfscan_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 27 0 0 9 4 30.7692 FOXD4L1 0 genome.wustl.edu 37 2 114257389 114257389 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 114257389 114257389 G A SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.556 p.A186T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 586 0 0 205 42 17.004 DPP10 0 genome.wustl.edu 37 2 116572537 116572537 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 116572537 116572537 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1881 p.E627D 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 226 0 0 89 18 16.8224 GREB1 0 genome.wustl.edu 37 2 11780503 11780503 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 11780503 11780503 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5773 p.R1925W 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 148 0 0 50 9 15.2542 SMPD4 0 genome.wustl.edu 37 2 130930247 130930247 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 130930247 130930247 G A SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.575 p.P192L 0.998 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 226 1 0.440529 68 13 16.0494 LOC150776 0 genome.wustl.edu 37 2 132263987 132263987 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 132263987 132263987 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 106 0 0 26 7 21.2121 NCKAP5 0 genome.wustl.edu 37 2 133541594 133541594 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 133541594 133541594 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.2790 p.P930 0.196 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 54 0 0 15 3 16.6667 LOC100507600 0 genome.wustl.edu 37 2 136579747 136579747 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 136579747 136579747 G A SNP LOC100507600 ENST00000437007 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC011893.3 Clone_based_vega_gene ENSG00000226806 29 0 0 20 5 20 BAZ2B 0 genome.wustl.edu 37 2 160181327 160181327 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 160181327 160181327 A G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.6348 p.S2116 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 52 0 0 22 6 21.4286 FAP 0 genome.wustl.edu 37 2 163099429 163099429 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 163099429 163099429 C T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.80 p.R27H 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 52 0 0 15 3 16.6667 PXDN 0 genome.wustl.edu 37 2 1652415 1652415 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 1652415 1652415 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3137 p.T1046M 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 36 0 0 11 3 21.4286 XIRP2 0 genome.wustl.edu 37 2 168105457 168105457 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 168105457 168105457 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7555 p.I2519V 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 202 0 0 76 10 11.6279 LRP2 0 genome.wustl.edu 37 2 169996081 169996081 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 169996081 169996081 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.13239 p.A4413 0.333 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 260 0 0 117 15 11.3636 FASTKD1 0 genome.wustl.edu 37 2 170416906 170416906 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 170416906 170416906 T C SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.962 p.E321G 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 201 0 0 80 23 22.3301 GORASP2 0 genome.wustl.edu 37 2 171822458 171822458 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 171822458 171822458 G A SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.1213 p.A405T 0.027 NULL pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 169 0 0 58 18 23.6842 CDCA7 0 genome.wustl.edu 37 2 174229545 174229545 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 174229545 174229545 G A SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.722 p.R241H 0.885 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 125 0 0 67 16 19.2771 RBM45 0 genome.wustl.edu 37 2 178977308 178977308 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 178977308 178977308 G A SNP RBM45 ENST00000286070 human ensembl 74_37 +1 known missense c.35 p.G12D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 97 0 0 48 5 9.43396 OSBPL6 0 genome.wustl.edu 37 2 179259111 179259111 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179259111 179259111 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2657 p.R886Q 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 234 0 0 91 18 16.5138 TTN 0 genome.wustl.edu 37 2 179397429 179397429 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179397429 179397429 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.96209 p.R32070H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 72 0 0 47 8 14.5455 TTN 0 genome.wustl.edu 37 2 179414715 179414715 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179414715 179414715 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.84146 p.Q28049R 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 47 0 0 38 5 11.6279 TTN 0 genome.wustl.edu 37 2 179590652 179590652 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179590652 179590652 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.16665 p.R5555 0.231 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 42 0 0 24 6 20 TTN 0 genome.wustl.edu 37 2 179638834 179638834 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179638834 179638834 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7061 p.R2354H 1.000 superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 133 1 0.746269 68 18 20.9302 ZNF385B 0 genome.wustl.edu 37 2 180634426 180634426 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 180634426 180634426 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known silent c.57 p.R19 0.731 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 134 0 0 49 14 22.2222 ITGA4 0 genome.wustl.edu 37 2 182374394 182374394 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 182374394 182374394 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1705 p.R569W 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 117 0 0 50 12 19.3548 NCKAP1 0 genome.wustl.edu 37 2 183860434 183860434 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 183860434 183860434 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.754 p.D252N 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 118 0 0 45 9 16.6667 ENSG00000231689 0 genome.wustl.edu 37 2 189092660 189092660 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 189092660 189092660 C T SNP ENSG00000231689 ENST00000415357 human ensembl 74_37 -1 known rna NULL NULL 0.084 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 136 0 0 55 10 15.3846 COL5A2 0 genome.wustl.edu 37 2 189927977 189927977 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 189927977 189927977 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.1790 p.G597D 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 138 0 0 63 10 13.6986 GTF3C3 0 genome.wustl.edu 37 2 197636657 197636657 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 197636657 197636657 A G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2075 p.M692T 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 116 0 0 46 16 25.8065 ANKRD44 0 genome.wustl.edu 37 2 197986194 197986194 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 197986194 197986194 G A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.693 p.N231 0.039 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 72 0 0 40 4 9.09091 RFTN2 0 genome.wustl.edu 37 2 198540105 198540105 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 198540105 198540105 C T SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known silent c.78 p.P26 0.974 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 254 1 0.392157 110 12 9.83607 KCTD18 0 genome.wustl.edu 37 2 201371662 201371662 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 201371662 201371662 C T SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known silent c.78 p.R26 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 97 0 0 35 10 22.2222 BMPR2 0 genome.wustl.edu 37 2 203383560 203383560 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 203383560 203383560 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known nonsense c.637 p.R213* 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 75 0 0 43 5 10.4167 FAM117B 0 genome.wustl.edu 37 2 203622015 203622015 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 203622015 203622015 A C SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1184 p.Q395P 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 111 0 0 44 12 21.4286 CTLA4 0 genome.wustl.edu 37 2 204735367 204735367 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 204735367 204735367 T A SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known missense c.168 p.F56L 0.986 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 174 0 0 74 13 14.9425 PARD3B 0 genome.wustl.edu 37 2 206305302 206305302 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 206305302 206305302 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2950 p.R984W 0.992 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 137 1 0.724638 69 18 20.6897 MAP2 0 genome.wustl.edu 37 2 210560533 210560533 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 210560533 210560533 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.3639 p.T1213 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 86 0 0 26 6 18.75 MAP2 0 genome.wustl.edu 37 2 210574923 210574923 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 210574923 210574923 T A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.5018 p.V1673D 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 38 0 0 17 4 19.0476 RPE 0 genome.wustl.edu 37 2 210882238 210882238 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 210882238 210882238 G T SNP RPE ENST00000359429 human ensembl 74_37 +1 known missense c.519 p.E173D 1.000 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 138 0 0 46 8 14.8148 TNS1 0 genome.wustl.edu 37 2 218712976 218712976 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 218712976 218712976 G T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1889 p.P630H 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 108 0 0 35 8 18.6047 SPEG 0 genome.wustl.edu 37 2 220353375 220353375 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 220353375 220353375 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.8014 p.V2672M 0.017 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 83 0 0 32 8 20 INHA 0 genome.wustl.edu 37 2 220439842 220439842 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 220439842 220439842 G A SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.695 p.R232H 1.000 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 82 0 0 38 4 9.52381 SLC4A3 0 genome.wustl.edu 37 2 220494917 220494917 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 220494917 220494917 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.735 p.E245 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 37 0 0 19 7 26.9231 CUL3 0 genome.wustl.edu 37 2 225376167 225376167 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 225376167 225376167 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.787 p.V263M 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 244 0 0 117 21 15.2174 SP110 0 genome.wustl.edu 37 2 231042288 231042288 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 231042288 231042288 C T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.1556 p.R519H 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 589 0 0 232 42 15.3285 GIGYF2 0 genome.wustl.edu 37 2 233715062 233715062 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 233715062 233715062 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.3841 p.Q1281* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 163 0 0 52 11 17.4603 ANKMY1 0 genome.wustl.edu 37 2 241463633 241463633 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 241463633 241463633 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1234 p.G412S 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 97 0 0 47 15 24.1935 GPR35 0 genome.wustl.edu 37 2 241570284 241570284 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 241570284 241570284 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known silent c.1008 p.C336 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 237 0 0 92 24 20.6897 PASK 0 genome.wustl.edu 37 2 242066674 242066674 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 242066674 242066674 T C SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.1656 p.P552 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 391 0 0 118 20 14.4928 MFSD2B 0 genome.wustl.edu 37 2 24247090 24247090 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 24247090 24247090 C A SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known missense c.1439 p.S480Y 0.002 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 38 0 0 9 3 25 GAL3ST2 0 genome.wustl.edu 37 2 242741267 242741267 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 242741267 242741267 G A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.191 p.S64N 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 126 0 0 48 8 14.2857 LOC101930257 0 genome.wustl.edu 37 2 243056854 243056854 + RNA SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 243056854 243056854 A G SNP LOC101930257 ENST00000431796 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093642.5 Clone_based_vega_gene ENSG00000220804 55 0 0 39 5 11.3636 ITSN2 0 genome.wustl.edu 37 2 24524945 24524945 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 24524945 24524945 C T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.884 p.G295E 1.000 smart_EPS15_homology,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 63 0 0 33 5 13.1579 ADCY3 0 genome.wustl.edu 37 2 25042948 25042948 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 25042948 25042948 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.3288 p.Y1096 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 99 0 0 38 4 9.52381 ADCY3 0 genome.wustl.edu 37 2 25061489 25061489 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 25061489 25061489 C T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1358 p.R453H 0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 280 0 0 67 14 17.284 DNAJC27 0 genome.wustl.edu 37 2 25194767 25194767 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 25194767 25194767 C T SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known missense c.7 p.A3T 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 32 0 0 11 3 21.4286 CAD 0 genome.wustl.edu 37 2 27458503 27458503 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 27458503 27458503 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4069 p.V1357I 0.964 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 89 0 0 30 15 33.3333 PPM1G 0 genome.wustl.edu 37 2 27608664 27608664 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 27608664 27608664 C T SNP PPM1G ENST00000344034 human ensembl 74_37 -1 known missense c.359 p.R120Q 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1G HGNC ENSG00000115241 86 0 0 52 10 16.129 CLIP4 0 genome.wustl.edu 37 2 29404624 29404624 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 29404624 29404624 C A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.1983 p.A661 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 179 0 0 59 10 14.4928 EHD3 0 genome.wustl.edu 37 2 31489099 31489099 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 31489099 31489099 G T SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.1137 p.L379 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 135 0 0 44 9 16.9811 XDH 0 genome.wustl.edu 37 2 31593290 31593290 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 31593290 31593290 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.1911 p.S637 0.014 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 78 0 0 32 9 21.9512 LTBP1 0 genome.wustl.edu 37 2 33572473 33572473 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 33572473 33572473 A G SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.3899 p.E1300G 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 125 0 0 60 6 9.09091 COLEC11 0 genome.wustl.edu 37 2 3673649 3673649 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 3673649 3673649 T C SNP COLEC11 ENST00000236693 human ensembl 74_37 +1 known missense c.160 p.C54R 0.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 293 0 0 129 22 14.5695 CYP1B1 0 genome.wustl.edu 37 2 38298187 38298187 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 38298187 38298187 G A SNP CYP1B1 ENST00000260630 human ensembl 74_37 -1 known missense c.1310 p.P437L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1B1 HGNC ENSG00000138061 93 0 0 30 10 25 SLC8A1 0 genome.wustl.edu 37 2 40656427 40656427 + Nonsense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 40656427 40656427 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known nonsense c.994 p.E332* 1.000 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 182 0 0 116 23 16.5468 ENSG00000251942 0 genome.wustl.edu 37 2 53697618 53697618 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 53697618 53697618 G A SNP ENSG00000251942 ENST00000516133 human ensembl 74_37 -1 novel rna NULL NULL 0.379 - - - no_errors SCARNA16 RFAM ENSG00000251942 35 0 0 4 3 42.8571 EFEMP1 0 genome.wustl.edu 37 2 56098186 56098186 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 56098186 56098186 C T SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 99 0 0 44 12 21.4286 XPO1 0 genome.wustl.edu 37 2 61709583 61709583 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 61709583 61709583 A G SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known silent c.2904 p.V968 0.998 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 147 0 0 52 10 16.129 ETAA1 0 genome.wustl.edu 37 2 67629950 67629950 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 67629950 67629950 C T SNP ETAA1 ENST00000462772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ETAA1 HGNC ENSG00000143971 94 0 0 43 7 14 AAK1 0 genome.wustl.edu 37 2 69732777 69732777 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 69732777 69732777 T C SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known silent c.2193 p.S731 0.987 NULL 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 AAK1 HGNC ENSG00000115977 63 0 0 25 5 16.6667 ZNF638 0 genome.wustl.edu 37 2 71576635 71576635 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 71576635 71576635 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.551 p.R184H 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 96 0 0 45 9 16.6667 EVA1A 0 genome.wustl.edu 37 2 75720679 75720679 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 75720679 75720679 G A SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known silent c.142 p.L48 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 50 0 0 13 4 23.5294 LRRTM4 0 genome.wustl.edu 37 2 77746720 77746720 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 77746720 77746720 A C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.278 p.L93R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 118 0 0 58 12 17.1429 CTNNA2 0 genome.wustl.edu 37 2 80101447 80101447 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 80101447 80101447 T C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.933 p.A311 0.995 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 100 0 0 39 4 9.30233 USP39 0 genome.wustl.edu 37 2 85846392 85846392 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 85846392 85846392 G A SNP USP39 ENST00000409470 human ensembl 74_37 +1 known silent c.318 p.P106 0.018 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 46 0 0 16 6 27.2727 SNPH 0 genome.wustl.edu 37 20 1285978 1285978 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 1285978 1285978 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known silent c.897 p.T299 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 109 0 0 33 4 10.8108 RRBP1 0 genome.wustl.edu 37 20 17641004 17641004 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 17641004 17641004 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.149 p.A50V 0.993 pfam_Rib_rcpt_KP pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 49 0 0 25 9 26.4706 CD93 0 genome.wustl.edu 37 20 23066077 23066077 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 23066077 23066077 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.753 p.G251 0.007 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 243 0 0 102 24 19.0476 GZF1 0 genome.wustl.edu 37 20 23350271 23350271 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 23350271 23350271 A G SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1678 p.N560D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 225 0 0 88 20 18.5185 NINL 0 genome.wustl.edu 37 20 25507059 25507059 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 25507059 25507059 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.165 p.N55 0.002 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 392 0 0 137 18 11.6129 CBFA2T2 0 genome.wustl.edu 37 20 32232206 32232206 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 32232206 32232206 C T SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1569 p.I523 0.988 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 173 0 0 61 9 12.8571 RALY 0 genome.wustl.edu 37 20 32663747 32663747 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 32663747 32663747 C T SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.445 p.R149W 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 65 0 0 29 12 29.2683 C20orf194 0 genome.wustl.edu 37 20 3277379 3277379 + RNA SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 3277379 3277379 C A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.871 - - - no_errors C20orf194 HGNC ENSG00000088854 79 0 0 44 8 15.3846 ERGIC3 0 genome.wustl.edu 37 20 34144790 34144790 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 34144790 34144790 C T SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 58 0 0 28 3 9.67742 ADAM33 0 genome.wustl.edu 37 20 3653445 3653445 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 3653445 3653445 C T SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1234 p.G412R 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 41 0 0 14 4 22.2222 SNORA71B 0 genome.wustl.edu 37 20 37053897 37053897 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 37053897 37053897 G A SNP SNORA71B ENST00000364546 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA71B HGNC ENSG00000235408 219 0 0 68 11 13.9241 RALGAPB 0 genome.wustl.edu 37 20 37203485 37203485 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 37203485 37203485 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.4360 p.P1454S 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 184 0 0 64 19 22.8916 PTPRT 0 genome.wustl.edu 37 20 40980779 40980779 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 40980779 40980779 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.1707 p.S569 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 178 1 0.558659 57 13 18.5714 OSER1 0 genome.wustl.edu 37 20 42825844 42825844 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 42825844 42825844 C T SNP OSER1 ENST00000255174 human ensembl 74_37 -1 known missense c.727 p.A243T 0.041 NULL pfam_DUF776 - no_errors OSER1 HGNC ENSG00000132823 118 0 0 55 18 24.6575 RBPJL 0 genome.wustl.edu 37 20 43938299 43938299 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 43938299 43938299 A C SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.224 p.K75T 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 84 0 0 19 5 20.8333 PLTP 0 genome.wustl.edu 37 20 44530909 44530909 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 44530909 44530909 C T SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.1232 p.R411H 0.998 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 47 0 0 30 3 9.09091 ZNF334 0 genome.wustl.edu 37 20 45130815 45130815 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 45130815 45130815 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1163 p.C388Y 0.000 smart_Znf_C2H2-like,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 ZNF334 HGNC ENSG00000198185 247 0 0 111 23 17.1642 ZNF334 0 genome.wustl.edu 37 20 45131154 45131154 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 45131154 45131154 C T SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.824 p.R275H 0.001 smart_Znf_C2H2-like,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 ZNF334 HGNC ENSG00000198185 203 0 0 95 17 15.1786 BCAS1 0 genome.wustl.edu 37 20 52645217 52645217 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 52645217 52645217 G A SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.437 p.P146L 0.000 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 114 0 0 59 4 6.34921 MC3R 0 genome.wustl.edu 37 20 54824345 54824345 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 54824345 54824345 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.446 p.A149V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 181 0 0 71 14 16.4706 TUBB1 0 genome.wustl.edu 37 20 57597953 57597953 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 57597953 57597953 C T SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known silent c.111 p.R37 0.002 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 77 0 0 35 12 25.5319 MCM8 0 genome.wustl.edu 37 20 5974312 5974312 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 5974312 5974312 C T SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.2521 p.R841W 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 111 0 0 47 6 11.3208 CRLS1 0 genome.wustl.edu 37 20 6012658 6012658 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 6012658 6012658 C T SNP CRLS1 ENST00000378863 human ensembl 74_37 +1 known nonsense c.661 p.R221* 0.991 NULL pfam_CDP-OH_P_trans - no_errors CRLS1 HGNC ENSG00000088766 147 0 0 94 9 8.73786 LAMA5 0 genome.wustl.edu 37 20 60890152 60890152 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 60890152 60890152 C A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7979 p.W2660L 1.000 pfam_Laminin_II pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 41 0 0 21 8 27.5862 DIDO1 0 genome.wustl.edu 37 20 61513091 61513091 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 61513091 61513091 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4217 p.R1406Q 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 194 0 0 79 21 21 HELZ2 0 genome.wustl.edu 37 20 62195518 62195518 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 62195518 62195518 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.4657 p.R1553W 0.973 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 44 0 0 9 2 18.1818 HELZ2 0 genome.wustl.edu 37 20 62196357 62196357 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 62196357 62196357 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.3818 p.R1273Q 0.674 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 20 0 0 5 3 37.5 PCMTD2 0 genome.wustl.edu 37 20 62904787 62904787 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 62904787 62904787 A G SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.920 p.D307G 0.990 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 217 0 0 85 8 8.60215 SLC52A3 0 genome.wustl.edu 37 20 744159 744159 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 744159 744159 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known silent c.1056 p.S352 1.000 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 112 1 0.884956 35 6 14.6341 TPTE 0 genome.wustl.edu 37 21 10914434 10914434 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 10914434 10914434 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1285 p.R429C 0.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 65 0 0 42 5 10.6383 TMPRSS15 0 genome.wustl.edu 37 21 19666643 19666643 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 19666643 19666643 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2430 p.C810 0.954 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 199 0 0 72 17 19.1011 TMPRSS15 0 genome.wustl.edu 37 21 19737468 19737468 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 19737468 19737468 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.762 p.Q254 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 179 0 0 72 9 11.1111 NCAM2 0 genome.wustl.edu 37 21 22881276 22881276 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 22881276 22881276 C T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known nonsense c.2182 p.Q728* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 152 0 0 55 5 8.33333 RWDD2B 0 genome.wustl.edu 37 21 30380391 30380391 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 30380391 30380391 G A SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.416 p.A139V 0.021 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 65 0 0 53 15 22.0588 SON 0 genome.wustl.edu 37 21 34923165 34923165 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 34923165 34923165 C T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.1628 p.T543M 0.810 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 235 0 0 99 21 17.5 DOPEY2 0 genome.wustl.edu 37 21 37617398 37617398 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 37617398 37617398 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.3120 p.C1040 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 51 0 0 23 3 11.5385 HLCS 0 genome.wustl.edu 37 21 38269298 38269298 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 38269298 38269298 G T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1313 p.P438H 0.976 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 180 0 0 98 17 14.7826 DSCR3 0 genome.wustl.edu 37 21 38610677 38610677 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 38610677 38610677 G A SNP DSCR3 ENST00000492514 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DSCR3 HGNC ENSG00000157538 47 0 0 19 9 32.1429 DSCAM 0 genome.wustl.edu 37 21 41385265 41385265 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 41385265 41385265 T C SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5735 p.N1912S 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 110 0 0 45 5 10 MX1 0 genome.wustl.edu 37 21 42813706 42813706 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 42813706 42813706 G T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.794 p.R265L 0.001 pfam_Dynamin_central,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 182 1 0.546448 90 5 5.26316 U2AF1 0 genome.wustl.edu 37 21 44515560 44515560 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 44515560 44515560 G A SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known silent c.336 p.N112 0.810 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 192 1 0.518135 90 18 16.6667 PWP2 0 genome.wustl.edu 37 21 45546795 45546795 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 45546795 45546795 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.2089 p.R697W 1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 317 0 0 110 26 19.1176 KRTAP10-9 0 genome.wustl.edu 37 21 46047097 46047097 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 46047097 46047097 G A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known silent c.9 p.A3 0.011 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 205 0 0 66 14 17.5 ITGB2 0 genome.wustl.edu 37 21 46308785 46308785 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 46308785 46308785 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.1903 p.E635K 0.318 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 86 0 0 26 9 25.7143 PRMT2 0 genome.wustl.edu 37 21 48083413 48083413 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 48083413 48083413 T C SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known missense c.1216 p.S406P 1.000 NULL pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 93 0 0 57 4 6.55738 IL17RA 0 genome.wustl.edu 37 22 17590340 17590340 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 17590340 17590340 T C SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.2231 p.V744A 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 41 0 0 28 4 12.5 DGCR2 0 genome.wustl.edu 37 22 19050715 19050715 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 19050715 19050715 C A SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.625 p.G209C 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 62 0 0 22 3 12 PPIL2 0 genome.wustl.edu 37 22 22024875 22024875 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 22024875 22024875 C T SNP PPIL2 ENST00000412327 human ensembl 74_37 +1 known missense c.103 p.R35C 1.000 pfam_Rtf2_RING-finger pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 204 1 0.487805 77 18 18.9474 PRAME 0 genome.wustl.edu 37 22 22892556 22892556 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 22892556 22892556 A G SNP PRAME ENST00000398741 human ensembl 74_37 -1 known missense c.545 p.F182S 0.001 NULL NULL - no_errors PRAME HGNC ENSG00000185686 204 0 0 89 16 15.2381 BCR 0 genome.wustl.edu 37 22 23540479 23540479 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 23540479 23540479 C T SNP BCR ENST00000463770 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors BCR HGNC ENSG00000186716 272 0 0 113 20 15.0376 GGT1 0 genome.wustl.edu 37 22 25010758 25010758 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 25010758 25010758 C T SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known silent c.180 p.D60 0.527 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 152 0 0 49 7 12.5 MN1 0 genome.wustl.edu 37 22 28195359 28195359 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 28195359 28195359 G A SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.1173 p.G391 0.995 NULL NULL - no_errors MN1 HGNC ENSG00000169184 21 0 0 9 4 30.7692 ASCC2 0 genome.wustl.edu 37 22 30210653 30210653 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 30210653 30210653 G T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.713 p.P238H 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 64 0 0 28 5 15.1515 PES1 0 genome.wustl.edu 37 22 30977552 30977552 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 30977552 30977552 C T SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.710 p.R237H 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 76 0 0 19 7 26.9231 INPP5J 0 genome.wustl.edu 37 22 31522407 31522407 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 31522407 31522407 C T SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.1317 p.D439 0.162 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 286 0 0 121 22 15.3846 SFI1 0 genome.wustl.edu 37 22 32002324 32002324 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 32002324 32002324 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2065 p.R689C 0.038 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 81 0 0 42 4 8.69565 DEPDC5 0 genome.wustl.edu 37 22 32210985 32210985 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 32210985 32210985 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known nonsense c.1453 p.R485* 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 152 1 0.653595 53 14 20.8955 HMGXB4 0 genome.wustl.edu 37 22 35660704 35660704 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 35660704 35660704 C T SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known missense c.323 p.T108I 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 296 0 0 125 9 6.71642 APOL2 0 genome.wustl.edu 37 22 36624092 36624092 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 36624092 36624092 G A SNP APOL2 ENST00000249066 human ensembl 74_37 -1 known silent c.372 p.G124 0.000 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 109 0 0 54 11 16.9231 ELFN2 0 genome.wustl.edu 37 22 37771205 37771205 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 37771205 37771205 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known nonsense c.370 p.R124* 1.000 smart_Leu-rich_rpt_typical-subtyp superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 150 0 0 67 8 10.6667 CARD10 0 genome.wustl.edu 37 22 37914056 37914056 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 37914056 37914056 C G SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.295 p.A99P 0.671 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 103 0 0 32 3 8.57143 KCNJ4 0 genome.wustl.edu 37 22 38823343 38823343 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 38823343 38823343 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.795 p.I265 0.940 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 78 0 0 40 8 16.6667 APOBEC3B 0 genome.wustl.edu 37 22 39388072 39388072 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 39388072 39388072 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known missense c.1052 p.R351H 0.044 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 68 0 0 22 5 18.5185 ST13 0 genome.wustl.edu 37 22 41222545 41222545 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 41222545 41222545 C T SNP ST13 ENST00000216218 human ensembl 74_37 -1 known silent c.1107 p.A369 0.968 NULL pfam_TPR_1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ENSG00000100380 330 0 0 129 24 15.6863 TEF 0 genome.wustl.edu 37 22 41790186 41790186 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 41790186 41790186 G A SNP TEF ENST00000266304 human ensembl 74_37 +1 known missense c.562 p.A188T 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors TEF HGNC ENSG00000167074 227 2 0.873362 80 16 16.6667 TOB2 0 genome.wustl.edu 37 22 41833202 41833202 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 41833202 41833202 G A SNP TOB2 ENST00000327492 human ensembl 74_37 -1 known silent c.148 p.L50 0.784 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 83 0 0 36 6 14.2857 MCAT 0 genome.wustl.edu 37 22 43529111 43529111 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 43529111 43529111 C T SNP MCAT ENST00000290429 human ensembl 74_37 -1 known missense c.1111 p.A371T 0.003 smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 286 0 0 101 31 23.4848 TTLL12 0 genome.wustl.edu 37 22 43576904 43576904 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 43576904 43576904 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known silent c.390 p.H130 0.041 NULL pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 92 0 0 49 5 9.25926 SCUBE1 0 genome.wustl.edu 37 22 43619155 43619155 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 43619155 43619155 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.1275 p.G425 0.055 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 277 0 0 119 28 19.0476 EFCAB6 0 genome.wustl.edu 37 22 44031028 44031028 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 44031028 44031028 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.2052 p.F684 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 131 0 0 51 4 7.27273 SAMM50 0 genome.wustl.edu 37 22 44368144 44368144 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 44368144 44368144 C T SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known silent c.351 p.D117 0.586 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 104 0 0 43 9 17.3077 GRAMD4 0 genome.wustl.edu 37 22 47033823 47033823 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 47033823 47033823 C A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.249 p.H83Q 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 236 0 0 93 16 14.6789 CRELD2 0 genome.wustl.edu 37 22 50318101 50318101 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 50318101 50318101 C T SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.1013 p.A338V 0.468 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 27 0 0 11 3 21.4286 TRABD 0 genome.wustl.edu 37 22 50635771 50635771 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 50635771 50635771 C A SNP TRABD ENST00000303434 human ensembl 74_37 +1 known silent c.522 p.A174 1.000 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 139 0 0 56 12 17.6471 SBF1 0 genome.wustl.edu 37 22 50892961 50892961 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 50892961 50892961 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.5023 p.A1675T 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 135 0 0 53 12 18.4615 SHANK3 0 genome.wustl.edu 37 22 51160524 51160524 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 51160524 51160524 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.4311 p.P1437 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,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 SHANK3 HGNC ENSG00000251322 41 0 0 22 6 21.4286 NIT2 0 genome.wustl.edu 37 3 100065064 100065064 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 100065064 100065064 G A SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known missense c.470 p.R157Q 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 72 0 0 22 3 12 POGLUT1 0 genome.wustl.edu 37 3 119209485 119209485 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 119209485 119209485 T C SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known silent c.885 p.D295 0.013 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 221 0 0 122 15 10.9489 ILDR1 0 genome.wustl.edu 37 3 121712299 121712299 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 121712299 121712299 G A SNP ILDR1 ENST00000344209 human ensembl 74_37 -1 known missense c.1297 p.R433W 0.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 32 0 0 12 5 29.4118 ILDR1 0 genome.wustl.edu 37 3 121720675 121720675 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 121720675 121720675 T C SNP ILDR1 ENST00000344209 human ensembl 74_37 -1 known missense c.416 p.D139G 1.000 smart_Ig_sub pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 135 0 0 51 15 22.7273 ADCY5 0 genome.wustl.edu 37 3 123021992 123021992 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 123021992 123021992 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.2634 p.A878 0.075 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 80 0 0 37 7 15.9091 MYLK 0 genome.wustl.edu 37 3 123419658 123419658 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 123419658 123419658 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2657 p.A886V 0.141 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 174 0 0 48 10 17.2414 RAF1 0 genome.wustl.edu 37 3 12645699 12645699 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 12645699 12645699 G A SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.770 p.S257L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 124 0 0 52 12 18.75 SEC61A1 0 genome.wustl.edu 37 3 127779411 127779411 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 127779411 127779411 C A SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known missense c.523 p.L175I 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 186 0 0 80 8 9.09091 SEC61A1 0 genome.wustl.edu 37 3 127788654 127788654 + RNA SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 127788654 127788654 A G SNP SEC61A1 ENST00000483956 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SEC61A1 HGNC ENSG00000058262 11 0 0 2 2 50 TMEM40 0 genome.wustl.edu 37 3 12790209 12790209 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 12790209 12790209 G A SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known silent c.204 p.S68 0.003 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 376 1 0.265252 150 25 14.2857 TMCC1 0 genome.wustl.edu 37 3 129389363 129389363 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 129389363 129389363 C T SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1321 p.A441T 0.865 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 128 0 0 79 5 5.95238 CPNE4 0 genome.wustl.edu 37 3 131293941 131293941 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 131293941 131293941 T C SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.955 p.M319V 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 146 0 0 59 9 13.2353 SLCO2A1 0 genome.wustl.edu 37 3 133661493 133661493 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 133661493 133661493 C T SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known silent c.1581 p.L527 0.998 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 99 0 0 50 7 12.2807 GRK7 0 genome.wustl.edu 37 3 141497441 141497441 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 141497441 141497441 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known silent c.315 p.A105 0.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 76 0 0 26 6 18.75 PLSCR4 0 genome.wustl.edu 37 3 145917640 145917640 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 145917640 145917640 C T SNP PLSCR4 ENST00000354952 human ensembl 74_37 -1 known missense c.584 p.C195Y 1.000 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 59 0 0 29 6 17.1429 ZIC1 0 genome.wustl.edu 37 3 147128485 147128485 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 147128485 147128485 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.586 p.G196S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 100 0 0 38 7 15.5556 FAM194A 0 genome.wustl.edu 37 3 150398595 150398595 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 150398595 150398595 G A SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known silent c.1005 p.V335 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 157 0 0 79 9 10.2273 IGSF10 0 genome.wustl.edu 37 3 151174864 151174864 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 151174864 151174864 C A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.274 p.G92C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 104 0 0 59 12 16.9014 ACTRT3 0 genome.wustl.edu 37 3 169485486 169485486 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 169485486 169485486 C A SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known missense c.853 p.G285C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 232 0 0 103 21 16.9355 CLDN11 0 genome.wustl.edu 37 3 170185173 170185173 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 170185173 170185173 G A SNP CLDN11 ENST00000480067 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CLDN11 HGNC ENSG00000013297 56 0 0 17 5 22.7273 PIK3CA 0 genome.wustl.edu 37 3 178952084 178952084 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 178952084 178952084 C T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3139 p.H1047Y 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 122 0 0 74 11 12.9412 FAM131A 0 genome.wustl.edu 37 3 184059734 184059734 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 184059734 184059734 G A SNP FAM131A ENST00000310585 human ensembl 74_37 +1 known missense c.113 p.S38N 0.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 247 0 0 123 20 13.986 HRG 0 genome.wustl.edu 37 3 186390618 186390618 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 186390618 186390618 C T SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.601 p.R201W 0.968 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 96 0 0 42 8 16 ENSG00000263826 0 genome.wustl.edu 37 3 186501291 186501291 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 186501291 186501291 C T SNP ENSG00000263826 ENST00000577781 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000263826 38 0 0 21 8 27.5862 BCL6 0 genome.wustl.edu 37 3 187444578 187444578 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 187444578 187444578 C T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.1649 p.R550H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 148 0 0 75 11 12.7907 TCTEX1D2 0 genome.wustl.edu 37 3 196043062 196043062 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 196043062 196043062 G A SNP TCTEX1D2 ENST00000325318 human ensembl 74_37 -1 known missense c.154 p.L52F 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 79 0 0 34 4 10.5263 EFHB 0 genome.wustl.edu 37 3 19975208 19975208 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 19975208 19975208 T G SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.303 p.K101N 0.007 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 249 0 0 95 13 12.037 RBMS3 0 genome.wustl.edu 37 3 29925682 29925682 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 29925682 29925682 A G SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known silent c.774 p.T258 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 89 0 0 44 5 10.2041 FBXL2 0 genome.wustl.edu 37 3 33427168 33427168 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 33427168 33427168 C T SNP FBXL2 ENST00000283627 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FBXL2 HGNC ENSG00000153558 36 0 0 39 5 11.3636 SLC22A14 0 genome.wustl.edu 37 3 38357085 38357085 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 38357085 38357085 C T SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.1415 p.P472L 0.001 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 145 0 0 52 8 13.3333 TRAK1 0 genome.wustl.edu 37 3 42236371 42236371 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 42236371 42236371 C T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.877 p.R293W 0.926 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 45 0 0 21 2 8.69565 EXOSC7 0 genome.wustl.edu 37 3 45038709 45038709 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 45038709 45038709 C T SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known missense c.385 p.R129W 0.489 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 103 0 0 43 8 15.6863 SACM1L 0 genome.wustl.edu 37 3 45780148 45780148 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 45780148 45780148 C T SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known silent c.1461 p.S487 0.934 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 77 0 0 54 8 12.9032 CCR2 0 genome.wustl.edu 37 3 46399158 46399158 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 46399158 46399158 C T SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known missense c.140 p.P47L 0.019 prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 163 0 0 112 25 18.2482 CCR5 0 genome.wustl.edu 37 3 46415343 46415343 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 46415343 46415343 C T SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known missense c.950 p.A317V 0.140 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 244 0 0 128 41 24.2604 COL7A1 0 genome.wustl.edu 37 3 48622168 48622168 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 48622168 48622168 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.4046 p.P1349L 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 95 0 0 40 6 13.0435 CELSR3 0 genome.wustl.edu 37 3 48677486 48677486 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 48677486 48677486 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.9547 p.R3183W 0.940 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 41 0 0 18 8 30.7692 DALRD3 0 genome.wustl.edu 37 3 49053239 49053239 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 49053239 49053239 C A SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known missense c.1510 p.G504W 1.000 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 204 0 0 83 15 15.3061 KLHDC8B 0 genome.wustl.edu 37 3 49212303 49212303 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 49212303 49212303 G A SNP KLHDC8B ENST00000332780 human ensembl 74_37 +1 known missense c.670 p.V224I 0.776 pfam_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 120 0 0 44 7 13.7255 MST1R 0 genome.wustl.edu 37 3 49940022 49940022 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 49940022 49940022 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1021 p.E341K 0.970 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 398 0 0 135 24 15.0943 RRP9 0 genome.wustl.edu 37 3 51968519 51968519 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 51968519 51968519 C T SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.1229 p.R410Q 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 84 0 0 22 7 24.1379 CACNA1D 0 genome.wustl.edu 37 3 53531422 53531422 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 53531422 53531422 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.311 p.R104H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 220 0 0 89 15 14.4231 CHDH 0 genome.wustl.edu 37 3 53854543 53854543 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 53854543 53854543 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known missense c.1078 p.R360W 0.002 pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 251 1 0.396825 67 16 19.2771 PDHB 0 genome.wustl.edu 37 3 58417706 58417706 + Silent SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 58417706 58417706 T A SNP PDHB ENST00000302746 human ensembl 74_37 -1 known silent c.102 p.T34 0.901 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 86 0 0 37 9 19.5652 FAM3D 0 genome.wustl.edu 37 3 58639469 58639469 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 58639469 58639469 G A SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known missense c.53 p.T18M 0.002 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 170 0 0 71 13 15.4762 MAGI1 0 genome.wustl.edu 37 3 65342220 65342220 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 65342220 65342220 C T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.4222 p.E1408K 0.999 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 158 0 0 112 10 8.19672 FAM86DP 0 genome.wustl.edu 37 3 75475644 75475644 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 75475644 75475644 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.487 - - - no_errors FAM86DP HGNC ENSG00000244026 189 0 0 55 7 11.2903 BRPF1 0 genome.wustl.edu 37 3 9781452 9781452 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 9781452 9781452 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.1369 p.P457S 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 54 0 0 15 4 21.0526 ADH1A 0 genome.wustl.edu 37 4 100205900 100205900 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 100205900 100205900 G A SNP ADH1A ENST00000209668 human ensembl 74_37 -1 known missense c.320 p.P107L 0.994 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 119 0 0 51 8 13.5593 ZNF518B 0 genome.wustl.edu 37 4 10447064 10447064 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 10447064 10447064 G T SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.889 p.L297M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 328 0 0 155 34 17.9894 ZNF518B 0 genome.wustl.edu 37 4 10447911 10447911 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 10447911 10447911 G A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.42 p.N14 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 374 1 0.266667 151 34 18.3784 TACR3 0 genome.wustl.edu 37 4 104640560 104640560 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 104640560 104640560 C T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known silent c.273 p.A91 0.019 prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 149 0 0 54 18 25 ANK2 0 genome.wustl.edu 37 4 114277438 114277438 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 114277438 114277438 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.7664 p.T2555I 0.073 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 277 0 0 110 24 17.9104 HSPA4L 0 genome.wustl.edu 37 4 128724950 128724950 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 128724950 128724950 T C SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.923 p.M308T 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 73 0 0 43 11 20.3704 PCDH10 0 genome.wustl.edu 37 4 134084187 134084187 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 134084187 134084187 T A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2853 p.D951E 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 147 0 0 72 5 6.49351 PCDH18 0 genome.wustl.edu 37 4 138450912 138450912 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 138450912 138450912 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.2331 p.S777 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 80 0 0 40 5 11.1111 ABCE1 0 genome.wustl.edu 37 4 146044706 146044706 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 146044706 146044706 G A SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.1594 p.V532I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 36 0 0 25 8 24.2424 POU4F2 0 genome.wustl.edu 37 4 147561730 147561730 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 147561730 147561730 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.1000 p.L334F 1.000 superfamily_Homeodomain-like pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 231 0 0 109 6 5.21739 FHDC1 0 genome.wustl.edu 37 4 153897118 153897118 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 153897118 153897118 G A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.2675 p.R892Q 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 88 0 0 38 6 13.6364 LRAT 0 genome.wustl.edu 37 4 155665779 155665779 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 155665779 155665779 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.301 p.V101I 1.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 47 0 0 26 6 18.75 FAM198B 0 genome.wustl.edu 37 4 159092400 159092400 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 159092400 159092400 G A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.128 p.A43V 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 115 0 0 51 4 7.27273 GLRA3 0 genome.wustl.edu 37 4 175649729 175649729 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 175649729 175649729 C T SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.388 p.D130N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 191 0 0 82 13 13.6842 TENM3 0 genome.wustl.edu 37 4 183713497 183713497 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 183713497 183713497 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5672 p.A1891V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 159 0 0 52 12 18.75 SLIT2 0 genome.wustl.edu 37 4 20521061 20521061 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 20521061 20521061 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1115 p.F372S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 69 0 0 25 3 10.7143 GPR125 0 genome.wustl.edu 37 4 22390560 22390560 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 22390560 22390560 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2734 p.A912T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 109 0 0 44 18 29.0323 TLR10 0 genome.wustl.edu 37 4 38777063 38777063 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 38777063 38777063 G A SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.149 p.T50I 0.222 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 83 0 0 48 14 22.5806 LRRC66 0 genome.wustl.edu 37 4 52861526 52861526 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 52861526 52861526 G A SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.1662 p.G554 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 240 0 0 104 18 14.7541 PDGFRA 0 genome.wustl.edu 37 4 55138643 55138643 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 55138643 55138643 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.1320 p.T440 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 137 0 0 55 13 19.1176 EVC2 0 genome.wustl.edu 37 4 5578094 5578094 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 5578094 5578094 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known nonsense c.3145 p.Q1049* 1.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 71 0 0 30 8 21.0526 KDR 0 genome.wustl.edu 37 4 55964877 55964877 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 55964877 55964877 C T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2360 p.R787Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 109 0 0 40 9 18.3673 WFS1 0 genome.wustl.edu 37 4 6302887 6302887 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 6302887 6302887 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known silent c.1365 p.T455 0.748 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 140 0 0 63 23 26.7442 PPP2R2C 0 genome.wustl.edu 37 4 6325119 6325119 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 6325119 6325119 C T SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.1254 p.T418 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 113 0 0 39 9 18.75 YTHDC1 0 genome.wustl.edu 37 4 69184427 69184427 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 69184427 69184427 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1742 p.R581Q 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 77 0 0 32 7 17.9487 GC 0 genome.wustl.edu 37 4 72634051 72634051 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 72634051 72634051 C A SNP GC ENST00000273951 human ensembl 74_37 -1 known silent c.228 p.A76 0.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 56 0 0 23 5 17.8571 PPBP 0 genome.wustl.edu 37 4 74853698 74853698 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 74853698 74853698 A G SNP PPBP ENST00000296028 human ensembl 74_37 -1 known silent c.123 p.T41 0.102 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PPBP HGNC ENSG00000163736 155 0 0 50 4 7.40741 PTPN13 0 genome.wustl.edu 37 4 87622904 87622904 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 87622904 87622904 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.1145 p.R382Q 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 127 0 0 57 10 14.9254 CAMK4 0 genome.wustl.edu 37 5 110560283 110560283 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 110560283 110560283 C T SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known silent c.102 p.I34 1.000 superfamily_Kinase-like_dom 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 CAMK4 HGNC ENSG00000152495 51 0 0 19 4 17.3913 APC 0 genome.wustl.edu 37 5 112174554 112174554 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 112174554 112174554 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.3263 p.K1088T 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 119 0 0 60 4 6.25 APC 0 genome.wustl.edu 37 5 112177857 112177857 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 112177857 112177857 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.6566 p.K2189R 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 130 0 0 59 11 15.7143 CHSY3 0 genome.wustl.edu 37 5 129241210 129241210 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 129241210 129241210 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.688 p.D230N 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 180 0 0 63 19 23.1707 TERT 0 genome.wustl.edu 37 5 1294331 1294331 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 1294331 1294331 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.670 p.R224C 0.011 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 18 0 0 4 3 42.8571 PPP2CA 0 genome.wustl.edu 37 5 133561635 133561635 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 133561635 133561635 G A SNP PPP2CA ENST00000231504 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors PPP2CA HGNC ENSG00000113575 38 0 0 1 3 75 TRPC7 0 genome.wustl.edu 37 5 135549172 135549172 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 135549172 135549172 T G SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.2540 p.K847T 1.000 prints_TRPC7_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 51 0 0 24 7 22.5806 TRPC7 0 genome.wustl.edu 37 5 135692820 135692820 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 135692820 135692820 C T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.256 p.V86M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 179 1 0.555556 86 12 12.2449 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 210 0 0 59 32 35.1648 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 214 0 0 55 45 45 ANKHD1 0 genome.wustl.edu 37 5 139865292 139865292 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 139865292 139865292 C A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.2117 p.P706H 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 115 0 0 51 12 19.0476 HARS 0 genome.wustl.edu 37 5 140053863 140053863 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140053863 140053863 G T SNP HARS ENST00000504156 human ensembl 74_37 -1 known silent c.1509 p.G503 0.434 superfamily_Anticodon-bd pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 80 0 0 29 7 19.4444 PCDHA1 0 genome.wustl.edu 37 5 140166076 140166076 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140166076 140166076 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.201 p.A67 0.998 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 247 1 0.403226 89 22 19.8198 PCDHA4 0 genome.wustl.edu 37 5 140188623 140188623 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140188623 140188623 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1851 p.G617 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 204 0 0 71 13 15.4762 PCDHA7 0 genome.wustl.edu 37 5 140215888 140215888 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140215888 140215888 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1920 p.T640 0.486 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 174 0 0 60 14 18.9189 PCDHA11 0 genome.wustl.edu 37 5 140249016 140249016 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140249016 140249016 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.328 p.V110M 0.976 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 471 0 0 183 43 19.0265 ENSG00000255622 0 genome.wustl.edu 37 5 140537186 140537186 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140537186 140537186 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1610 p.R537H 0.031 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 192 0 0 68 15 18.0723 PCDHB18 0 genome.wustl.edu 37 5 140615452 140615452 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140615452 140615452 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.298 - - - no_errors PCDHB18 HGNC ENSG00000146001 353 0 0 133 29 17.9012 PCDHGA8 0 genome.wustl.edu 37 5 140773918 140773918 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140773918 140773918 T C SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1538 p.V513A 0.615 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 141 0 0 51 16 23.8806 SLC6A3 0 genome.wustl.edu 37 5 1409934 1409934 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 1409934 1409934 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.1300 p.L434F 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 151 0 0 51 6 10.5263 GRIA1 0 genome.wustl.edu 37 5 153085479 153085479 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 153085479 153085479 C T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1705 p.R569C 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 168 0 0 79 23 22.549 TENM2 0 genome.wustl.edu 37 5 167553835 167553835 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 167553835 167553835 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.2286 p.G762 0.888 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 43 0 0 17 4 19.0476 FTH1P10 0 genome.wustl.edu 37 5 17354466 17354466 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 17354466 17354466 C T SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 74 0 0 33 7 17.5 FGFR4 0 genome.wustl.edu 37 5 176524326 176524326 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 176524326 176524326 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known silent c.2187 p.A729 0.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 33 0 0 12 4 25 HNRNPH1 0 genome.wustl.edu 37 5 179042578 179042578 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 179042578 179042578 T A SNP HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known missense c.1319 p.N440I 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 70 0 0 26 8 23.5294 MGAT4B 0 genome.wustl.edu 37 5 179226099 179226099 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 179226099 179226099 G A SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.1217 p.A406V 0.050 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 214 0 0 67 19 22.093 TBC1D9B 0 genome.wustl.edu 37 5 179290483 179290483 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 179290483 179290483 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3718 p.A1240T 0.995 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 124 0 0 51 7 12.069 MGAT1 0 genome.wustl.edu 37 5 180219400 180219400 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 180219400 180219400 C T SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known nonsense c.572 p.W191* 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 185 0 0 46 9 16.3636 CDH10 0 genome.wustl.edu 37 5 24505238 24505238 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 24505238 24505238 A C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1376 p.V459G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 86 0 0 53 11 17.1875 PDZD2 0 genome.wustl.edu 37 5 32058080 32058080 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 32058080 32058080 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2071 p.A691T 0.999 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 109 0 0 33 7 17.5 NPR3 0 genome.wustl.edu 37 5 32712054 32712054 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 32712054 32712054 T G SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.172 p.L58V 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 22 0 0 10 3 23.0769 IRX1 0 genome.wustl.edu 37 5 3599501 3599501 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 3599501 3599501 A G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.439 p.N147D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 140 0 0 64 10 13.5135 DAB2 0 genome.wustl.edu 37 5 39382876 39382876 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 39382876 39382876 C T SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known silent c.1185 p.P395 0.999 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 161 0 0 66 15 18.5185 PTGER4 0 genome.wustl.edu 37 5 40681632 40681632 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 40681632 40681632 G A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known silent c.537 p.T179 0.969 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 122 0 0 42 13 23.6364 C7 0 genome.wustl.edu 37 5 40955513 40955513 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 40955513 40955513 G A SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1118 p.G373E 0.916 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 248 0 0 98 12 10.9091 AHRR 0 genome.wustl.edu 37 5 427768 427768 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 427768 427768 C A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.737 p.A246D 0.001 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 192 0 0 62 15 19.4805 AHRR 0 genome.wustl.edu 37 5 434269 434269 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 434269 434269 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.1480 p.G494S 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 78 0 0 28 9 24.3243 C5orf34 0 genome.wustl.edu 37 5 43506054 43506054 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 43506054 43506054 G A SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.728 p.S243F 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 180 0 0 100 26 20.6349 SLC9A3 0 genome.wustl.edu 37 5 482775 482775 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 482775 482775 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.1244 p.R415H 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 65 0 0 26 7 21.2121 ADAMTS16 0 genome.wustl.edu 37 5 5232611 5232611 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 5232611 5232611 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1832 p.R611H 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 160 0 0 78 5 6.0241 GZMA 0 genome.wustl.edu 37 5 54404137 54404137 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 54404137 54404137 A G SNP GZMA ENST00000274306 human ensembl 74_37 +1 known missense c.542 p.D181G 0.995 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 98 0 0 44 16 26.6667 MAST4 0 genome.wustl.edu 37 5 66456371 66456371 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 66456371 66456371 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.3745 p.R1249W 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 244 0 0 93 19 16.9643 RAD17 0 genome.wustl.edu 37 5 68687822 68687822 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 68687822 68687822 A G SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known missense c.1204 p.K402E 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 137 0 0 56 16 22.2222 ZNF366 0 genome.wustl.edu 37 5 71756247 71756247 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 71756247 71756247 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known silent c.1077 p.H359 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 71 0 0 29 6 17.1429 GFM2 0 genome.wustl.edu 37 5 74028900 74028900 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 74028900 74028900 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known missense c.1534 p.L512F 1.000 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 129 0 0 67 10 12.987 COL4A3BP 0 genome.wustl.edu 37 5 74698880 74698880 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 74698880 74698880 C A SNP COL4A3BP ENST00000380494 human ensembl 74_37 -1 known missense c.1318 p.G440C 1.000 NULL pfam_START_lipid-bd_dom,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd_dom,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd_dom - no_errors COL4A3BP HGNC ENSG00000113163 117 0 0 55 5 8.33333 LOC101929215 0 genome.wustl.edu 37 5 79368029 79368029 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 79368029 79368029 G A SNP LOC101929215 ENST00000514042 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors CTD-2201I18.1 Clone_based_vega_gene ENSG00000249825 180 0 0 66 16 19.5122 GPR98 0 genome.wustl.edu 37 5 89953947 89953947 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 89953947 89953947 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4604 p.E1535G 1.000 NULL 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 174 0 0 85 5 5.55556 ASCC3 0 genome.wustl.edu 37 6 101077033 101077033 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 101077033 101077033 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.4233 p.V1411 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 64 0 0 39 4 9.30233 NR2E1 0 genome.wustl.edu 37 6 108492665 108492665 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 108492665 108492665 G A SNP NR2E1 ENST00000368986 human ensembl 74_37 +1 known missense c.29 p.R10H 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 257 0 0 81 12 12.9032 AK9 0 genome.wustl.edu 37 6 109867151 109867151 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 109867151 109867151 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known silent c.3144 p.N1048 0.069 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 121 0 0 64 18 21.9512 TRAF3IP2 0 genome.wustl.edu 37 6 111896928 111896928 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 111896928 111896928 C T SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known silent c.1146 p.P382 0.000 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 165 0 0 52 5 8.77193 NUS1 0 genome.wustl.edu 37 6 118015303 118015303 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 118015303 118015303 A G SNP NUS1 ENST00000368494 human ensembl 74_37 +1 known silent c.651 p.R217 0.000 pfam_UPP_synth-like,superfamily_UPP_synth-like pfam_UPP_synth-like,superfamily_UPP_synth-like - no_errors NUS1 HGNC ENSG00000153989 243 0 0 100 17 14.5299 MAN1A1 0 genome.wustl.edu 37 6 119669917 119669917 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 119669917 119669917 C T SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.314 p.R105H 0.885 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 51 0 0 24 3 11.1111 HIVEP1 0 genome.wustl.edu 37 6 12124092 12124092 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 12124092 12124092 A G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.4064 p.N1355S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 103 0 0 52 11 17.4603 HIVEP2 0 genome.wustl.edu 37 6 143091558 143091558 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 143091558 143091558 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known nonsense c.4318 p.R1440* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 143 0 0 41 8 16.3265 UST 0 genome.wustl.edu 37 6 149395060 149395060 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 149395060 149395060 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known silent c.1029 p.Y343 0.970 pfam_Sulfotransferase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 138 0 0 66 4 5.71429 TIAM2 0 genome.wustl.edu 37 6 155574136 155574136 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 155574136 155574136 C T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.4261 p.R1421C 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 88 0 0 23 6 20.6897 TFB1M 0 genome.wustl.edu 37 6 155581523 155581523 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 155581523 155581523 G A SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known silent c.678 p.G226 0.092 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 82 0 0 42 11 20.7547 PACRG 0 genome.wustl.edu 37 6 163149256 163149256 + RNA SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 163149256 163149256 T G SNP PACRG ENST00000542669 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PACRG HGNC ENSG00000112530 541 0 0 141 42 22.9508 SMOC2 0 genome.wustl.edu 37 6 168999659 168999659 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 168999659 168999659 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.832 p.R278C 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 27 0 0 9 3 25 HIST1H3C 0 genome.wustl.edu 37 6 26046023 26046023 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 26046023 26046023 C T SNP HIST1H3C ENST00000540144 human ensembl 74_37 +1 known missense c.385 p.R129C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 90 0 0 43 7 14 BTN2A1 0 genome.wustl.edu 37 6 26468713 26468713 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 26468713 26468713 A G SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.1520 p.N507S 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 202 0 0 71 14 16.4706 BTN2A1 0 genome.wustl.edu 37 6 26468722 26468722 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 26468722 26468722 C T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.1529 p.T510M 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 200 0 0 67 13 16.25 SCAND3 0 genome.wustl.edu 37 6 28540669 28540669 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 28540669 28540669 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.2997 p.C999 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 195 0 0 81 25 23.5849 OR11A1 0 genome.wustl.edu 37 6 29394924 29394924 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 29394924 29394924 G T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known silent c.495 p.A165 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 67 0 0 26 9 25.7143 TRIM26 0 genome.wustl.edu 37 6 30166814 30166814 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 30166814 30166814 G T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.67 p.L23M 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 70 0 0 35 5 12.5 RIPK1 0 genome.wustl.edu 37 6 3077208 3077208 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 3077208 3077208 C A SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known missense c.151 p.P51T 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 105 0 0 36 7 16.2791 MUC21 0 genome.wustl.edu 37 6 30955787 30955787 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 30955787 30955787 T G SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.1517 p.L506R 0.024 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 115 0 0 42 9 17.6471 NFKBIL1 0 genome.wustl.edu 37 6 31525449 31525449 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 31525449 31525449 G A SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known missense c.379 p.A127T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 114 0 0 31 7 18.4211 RXRB 0 genome.wustl.edu 37 6 33163388 33163388 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 33163388 33163388 G A SNP RXRB ENST00000374680 human ensembl 74_37 -1 known silent c.1215 p.R405 0.989 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 97 0 0 40 10 20 ZBTB9 0 genome.wustl.edu 37 6 33424018 33424018 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 33424018 33424018 G A SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.1141 p.G381R 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 50 0 0 29 4 12.1212 SPDEF 0 genome.wustl.edu 37 6 34512112 34512112 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 34512112 34512112 G A SNP SPDEF ENST00000374037 human ensembl 74_37 -1 known missense c.121 p.R41W 0.001 NULL 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 51 0 0 19 8 29.6296 ZNF76 0 genome.wustl.edu 37 6 35259412 35259412 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 35259412 35259412 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known missense c.829 p.R277C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 148 0 0 49 11 18.3333 STK38 0 genome.wustl.edu 37 6 36475326 36475326 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 36475326 36475326 A G SNP STK38 ENST00000229812 human ensembl 74_37 -1 known silent c.723 p.H241 0.913 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 621 0 0 220 56 20.2899 MTCH1 0 genome.wustl.edu 37 6 36946332 36946332 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 36946332 36946332 G T SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known silent c.462 p.P154 1.000 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 MTCH1 HGNC ENSG00000137409 222 0 0 94 13 12.1495 MDGA1 0 genome.wustl.edu 37 6 37613720 37613720 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 37613720 37613720 G A SNP MDGA1 ENST00000434837 human ensembl 74_37 -1 known missense c.2237 p.P746L 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 80 0 0 31 5 13.8889 ZFAND3 0 genome.wustl.edu 37 6 38084410 38084410 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 38084410 38084410 C T SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known missense c.424 p.R142W 0.982 NULL pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 148 0 0 49 7 12.5 DAAM2 0 genome.wustl.edu 37 6 39869739 39869739 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 39869739 39869739 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.3133 p.R1045C 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 106 0 0 40 7 14.8936 PGC 0 genome.wustl.edu 37 6 41712453 41712453 + Silent SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 41712453 41712453 A T SNP PGC ENST00000373025 human ensembl 74_37 -1 known silent c.153 p.A51 0.000 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 63 0 0 33 5 13.1579 BYSL 0 genome.wustl.edu 37 6 41900303 41900303 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 41900303 41900303 C T SNP BYSL ENST00000230340 human ensembl 74_37 +1 known silent c.1173 p.A391 0.017 pfam_Bystin pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 200 0 0 68 13 16.0494 CUL9 0 genome.wustl.edu 37 6 43166460 43166460 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 43166460 43166460 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2917 p.R973C 0.928 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 285 0 0 102 19 15.7025 TDRD6 0 genome.wustl.edu 37 6 46656498 46656498 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 46656498 46656498 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.633 p.R211 0.983 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 123 0 0 54 10 15.625 TDRD6 0 genome.wustl.edu 37 6 46661523 46661523 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 46661523 46661523 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.5658 p.G1886 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 63 0 0 50 10 16.6667 EFHC1 0 genome.wustl.edu 37 6 52329890 52329890 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 52329890 52329890 C T SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known missense c.1114 p.R372W 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 59 0 0 32 14 30.4348 ICK 0 genome.wustl.edu 37 6 52878462 52878462 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 52878462 52878462 A G SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.1150 p.S384P 0.557 NULL 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 ICK HGNC ENSG00000112144 259 0 0 98 18 15.5172 FILIP1 0 genome.wustl.edu 37 6 76018593 76018593 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 76018593 76018593 G T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.3456 p.S1152 0.958 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 116 0 0 43 13 23.2143 PHIP 0 genome.wustl.edu 37 6 79752650 79752650 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 79752650 79752650 A G SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.510 p.Y170 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 320 0 0 115 18 13.5338 TTK 0 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 80751905 80751905 A G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2560 p.R854G 0.014 NULL 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 TTK HGNC ENSG00000112742 90 0 0 40 10 20 SNAP91 0 genome.wustl.edu 37 6 84417539 84417539 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 84417539 84417539 G A SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known silent c.108 p.G36 1.000 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 274 0 0 110 13 10.5691 C6orf165 0 genome.wustl.edu 37 6 88138405 88138405 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 88138405 88138405 G T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1022 p.G341V 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 222 0 0 96 19 16.5217 RRAGD 0 genome.wustl.edu 37 6 90097137 90097137 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 90097137 90097137 G A SNP RRAGD ENST00000369415 human ensembl 74_37 -1 known silent c.321 p.N107 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 378 0 0 180 34 15.8879 MDN1 0 genome.wustl.edu 37 6 90461284 90461284 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 90461284 90461284 T G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.3093 p.K1031N 0.880 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 106 0 0 43 6 12.2449 CASP8AP2 0 genome.wustl.edu 37 6 90573907 90573907 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 90573907 90573907 G A SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.421 - - - no_errors CASP8AP2 HGNC ENSG00000118412 88 0 0 42 15 26.3158 MUC17 0 genome.wustl.edu 37 7 100676090 100676090 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 100676090 100676090 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.1393 p.A465T 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 730 2 0.273224 334 79 19.1283 CUX1 0 genome.wustl.edu 37 7 101840004 101840004 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 101840004 101840004 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.1346 p.P449L 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 203 0 0 73 14 16.092 DPY19L2P2 0 genome.wustl.edu 37 7 102835961 102835961 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 102835961 102835961 C T SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 75 0 0 37 5 11.9048 RELN 0 genome.wustl.edu 37 7 103179672 103179672 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 103179672 103179672 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7033 p.P2345S 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 86 0 0 36 5 12.1951 PUS7 0 genome.wustl.edu 37 7 105135657 105135657 + Nonsense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 105135657 105135657 G T SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known nonsense c.774 p.C258* 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 275 0 0 139 25 15.2439 THSD7A 0 genome.wustl.edu 37 7 11441596 11441596 + Splice_Site SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 11441596 11441596 C A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known splice_site c.4238-1 e23-1 1.000 - - - no_errors THSD7A HGNC ENSG00000005108 157 0 0 76 6 7.31707 CTTNBP2 0 genome.wustl.edu 37 7 117432324 117432324 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 117432324 117432324 G T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.926 p.T309K 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 296 1 0.3367 131 28 17.6101 AASS 0 genome.wustl.edu 37 7 121755182 121755182 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 121755182 121755182 G A SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.989 p.A330V 0.152 pfam_AlaDH/PNT_NAD(H)-bd pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 149 0 0 46 14 23.3333 ZNF800 0 genome.wustl.edu 37 7 127014561 127014561 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 127014561 127014561 G A SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.829 p.R277C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 178 0 0 71 16 18.3908 LRRC4 0 genome.wustl.edu 37 7 127669515 127669515 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 127669515 127669515 G T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1179 p.S393R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 131 0 0 51 6 10.5263 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 135 0 0 48 16 25 MIR335 0 genome.wustl.edu 37 7 130137901 130137901 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 130137901 130137901 G A SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 217 0 0 82 26 24.0741 MKLN1 0 genome.wustl.edu 37 7 131128350 131128350 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 131128350 131128350 G T SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.1284 p.L428F 0.879 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 117 1 0.847458 57 21 26.9231 AKR1B15 0 genome.wustl.edu 37 7 134254170 134254170 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 134254170 134254170 G A SNP AKR1B15 ENST00000423958 human ensembl 74_37 +1 known nonsense c.240 p.W80* 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ENSG00000227471 161 0 0 61 8 11.5942 KIAA1549 0 genome.wustl.edu 37 7 138566238 138566238 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 138566238 138566238 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.4125 p.A1375 0.017 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 127 0 0 46 9 16.3636 KIAA1549 0 genome.wustl.edu 37 7 138603140 138603140 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 138603140 138603140 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.1232 p.P411L 0.946 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 176 1 0.564972 60 15 20 RAB19 0 genome.wustl.edu 37 7 140107546 140107546 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 140107546 140107546 G T SNP RAB19 ENST00000275874 human ensembl 74_37 +1 known missense c.100 p.V34L 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB19 HGNC ENSG00000146955 149 0 0 38 14 26.9231 SLC4A2 0 genome.wustl.edu 37 7 150759083 150759083 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 150759083 150759083 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known silent c.9 p.S3 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 35 0 0 15 3 16.6667 FASTK 0 genome.wustl.edu 37 7 150774877 150774877 + RNA SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 150774877 150774877 G T SNP FASTK ENST00000461979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FASTK HGNC ENSG00000164896 71 0 0 28 11 28.2051 CRYGN 0 genome.wustl.edu 37 7 151135100 151135100 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 151135100 151135100 G T SNP CRYGN ENST00000337323 human ensembl 74_37 -1 known silent c.252 p.S84 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGN HGNC ENSG00000127377 102 0 0 28 6 17.6471 INTS1 0 genome.wustl.edu 37 7 1523451 1523451 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 1523451 1523451 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.3954 p.S1318 0.592 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 90 0 0 34 8 19.0476 RBM33 0 genome.wustl.edu 37 7 155556521 155556521 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 155556521 155556521 G T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2995 p.G999C 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 26 0 0 8 2 20 NOM1 0 genome.wustl.edu 37 7 156762322 156762322 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 156762322 156762322 C T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known silent c.2508 p.D836 0.995 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 332 0 0 94 11 10.4762 TMEM184A 0 genome.wustl.edu 37 7 1590549 1590549 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 1590549 1590549 C T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known missense c.289 p.V97M 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 84 0 0 22 5 18.5185 OSBPL3 0 genome.wustl.edu 37 7 24874117 24874117 + Silent SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 24874117 24874117 G T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.1734 p.P578 0.802 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 174 0 0 68 10 12.8205 AMZ1 0 genome.wustl.edu 37 7 2752350 2752350 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 2752350 2752350 C T SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known silent c.1335 p.G445 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 89 0 0 27 5 15.625 CCDC129 0 genome.wustl.edu 37 7 31690787 31690787 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 31690787 31690787 C T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2693 p.T898M 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 196 0 0 71 12 14.4578 EPDR1 0 genome.wustl.edu 37 7 37960699 37960699 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 37960699 37960699 T C SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.518 p.V173A 0.980 smart_Ependymin,prints_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 18 0 0 9 4 30.7692 AEBP1 0 genome.wustl.edu 37 7 44153500 44153500 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 44153500 44153500 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.3117 p.N1039 0.164 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 74 0 0 27 7 20.5882 ADCY1 0 genome.wustl.edu 37 7 45632428 45632428 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 45632428 45632428 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 205 0 0 80 13 13.9785 ADCY1 0 genome.wustl.edu 37 7 45742987 45742987 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 45742987 45742987 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known nonsense c.2467 p.R823* 0.989 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 167 0 0 52 17 24.6377 PKD1L1 0 genome.wustl.edu 37 7 47851593 47851593 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 47851593 47851593 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7403 p.S2468N 0.027 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 20 0 0 7 7 50 FKBP9L 0 genome.wustl.edu 37 7 55752957 55752957 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 55752957 55752957 C T SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP9L HGNC ENSG00000176826 59 0 0 30 4 11.7647 ZNF713 0 genome.wustl.edu 37 7 56007543 56007543 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 56007543 56007543 T C SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known silent c.1137 p.H379 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZNF713 HGNC ENSG00000178665 116 0 0 48 18 27.2727 PMS2 0 genome.wustl.edu 37 7 6026895 6026895 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 6026895 6026895 C T SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1501 p.V501M 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 150 0 0 72 17 19.1011 PMS2 0 genome.wustl.edu 37 7 6042145 6042145 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 6042145 6042145 A G SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.476 p.V159A 0.928 superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 205 0 0 117 19 13.9706 PRKAR1B 0 genome.wustl.edu 37 7 618981 618981 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 618981 618981 G A SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.803 p.A268V 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 141 0 0 49 11 18.3333 CCT6P1 0 genome.wustl.edu 37 7 65225435 65225435 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 65225435 65225435 C T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CCT6P1 HGNC ENSG00000228409 43 0 0 22 6 21.4286 TYW1B 0 genome.wustl.edu 37 7 72281204 72281204 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 72281204 72281204 G A SNP TYW1B ENST00000438904 human ensembl 74_37 -1 known silent c.285 p.D95 0.960 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1B HGNC ENSG00000254184 156 0 0 77 15 16.3043 STX1A 0 genome.wustl.edu 37 7 73117167 73117167 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 73117167 73117167 G A SNP STX1A ENST00000395154 human ensembl 74_37 -1 putative missense c.686 p.A229V 0.018 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 87 0 0 24 4 14.2857 WBSCR28 0 genome.wustl.edu 37 7 73280112 73280112 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 73280112 73280112 T C SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known missense c.707 p.V236A 0.000 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 387 1 0.257732 138 45 24.5902 ZNF804B 0 genome.wustl.edu 37 7 88963218 88963218 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 88963218 88963218 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.922 p.D308N 0.028 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 88 0 0 29 5 14.7059 SAMD9 0 genome.wustl.edu 37 7 92733171 92733171 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 92733171 92733171 G A SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.2240 p.A747V 0.997 superfamily_P-loop_NTPase pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 339 1 0.294118 174 42 19.4444 COL1A2 0 genome.wustl.edu 37 7 94041414 94041414 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 94041414 94041414 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.1385 p.A462V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 27 0 0 23 7 23.3333 DYNC1I1 0 genome.wustl.edu 37 7 95499216 95499216 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 95499216 95499216 C A SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known silent c.447 p.G149 0.055 pfam_Dynein_IC_1/2 pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 194 0 0 81 12 12.9032 SMURF1 0 genome.wustl.edu 37 7 98649848 98649848 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 98649848 98649848 G A SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.701 p.P234L 0.999 superfamily_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 258 0 0 82 12 12.766 RRM2B 0 genome.wustl.edu 37 8 103220371 103220371 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 103220371 103220371 G A SNP RRM2B ENST00000251810 human ensembl 74_37 -1 known missense c.1046 p.A349V 1.000 NULL pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2B HGNC ENSG00000048392 100 0 0 41 17 29.3103 UBR5 0 genome.wustl.edu 37 8 103289205 103289205 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 103289205 103289205 A G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.6504 p.S2168 0.972 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 110 0 0 51 8 13.5593 AZIN1 0 genome.wustl.edu 37 8 103855874 103855874 + Nonsense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 103855874 103855874 C A SNP AZIN1 ENST00000337198 human ensembl 74_37 -1 known nonsense c.7 p.G3* 1.000 NULL pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 122 0 0 54 5 8.47458 LRP12 0 genome.wustl.edu 37 8 105503269 105503269 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 105503269 105503269 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.2155 p.R719C 0.999 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 99 0 0 56 14 20 FAM167A 0 genome.wustl.edu 37 8 11282093 11282093 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 11282093 11282093 C T SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.434 p.R145H 1.000 pfam_FAM167 pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 82 0 0 35 7 16.6667 DLC1 0 genome.wustl.edu 37 8 12957132 12957132 + Missense_Mutation SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 12957132 12957132 T G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2714 p.E905A 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 80 0 0 25 8 24.2424 EFR3A 0 genome.wustl.edu 37 8 133015532 133015532 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 133015532 133015532 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.2360 p.R787H 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 142 0 0 53 10 15.873 KCNK9 0 genome.wustl.edu 37 8 140631097 140631097 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 140631097 140631097 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.529 p.A177T 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 68 0 0 42 9 17.6471 DENND3 0 genome.wustl.edu 37 8 142202652 142202652 + Nonsense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 142202652 142202652 G T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known nonsense c.3286 p.G1096* 0.922 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 140 0 0 51 7 12.069 EPPK1 0 genome.wustl.edu 37 8 144945087 144945087 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 144945087 144945087 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.2335 p.L779M 0.991 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 171 0 0 59 12 16.9014 PLEC 0 genome.wustl.edu 37 8 144999695 144999695 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 144999695 144999695 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.4813 p.R1605C 0.969 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 52 0 0 14 3 17.6471 SLC39A4 0 genome.wustl.edu 37 8 145638296 145638296 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 145638296 145638296 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.1662 p.S554 0.800 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 35 0 0 17 4 19.0476 MYOM2 0 genome.wustl.edu 37 8 2064029 2064029 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 2064029 2064029 A C SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3345 p.E1115D 0.041 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 44 0 0 20 5 20 BMP1 0 genome.wustl.edu 37 8 22053003 22053003 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 22053003 22053003 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.1668 p.R556 0.999 pirsf_BMP_1/tolloid-like,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 135 0 0 58 9 13.4328 TNFRSF10D 0 genome.wustl.edu 37 8 23002133 23002133 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 23002133 23002133 G A SNP TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known missense c.784 p.R262C 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 101 0 0 30 5 14.2857 LOXL2 0 genome.wustl.edu 37 8 23198632 23198632 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 23198632 23198632 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.616 p.V206M 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 LOXL2 HGNC ENSG00000134013 244 0 0 85 13 13.2653 PPP2R2A 0 genome.wustl.edu 37 8 26221281 26221281 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 26221281 26221281 G A SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.847 p.E283K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 82 0 0 36 7 16.2791 CHRNA2 0 genome.wustl.edu 37 8 27321182 27321182 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 27321182 27321182 C T SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.778 p.V260I 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 105 0 0 37 10 21.2766 KIF13B 0 genome.wustl.edu 37 8 28974486 28974486 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 28974486 28974486 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.3699 p.G1233 0.612 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 153 0 0 48 17 26.1538 KIF13B 0 genome.wustl.edu 37 8 29035015 29035015 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 29035015 29035015 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.801 p.G267 0.063 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 231 0 0 82 11 11.828 CSMD1 0 genome.wustl.edu 37 8 3253820 3253820 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 3253820 3253820 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2492 p.G831D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD1 HGNC ENSG00000183117 26 0 0 8 3 27.2727 BRF2 0 genome.wustl.edu 37 8 37704629 37704629 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 37704629 37704629 C T SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known silent c.279 p.A93 0.334 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 235 0 0 93 19 16.9643 SLC20A2 0 genome.wustl.edu 37 8 42323320 42323320 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 42323320 42323320 C T SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known silent c.405 p.V135 0.996 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 145 0 0 68 15 18.0723 PXDNL 0 genome.wustl.edu 37 8 52284448 52284448 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 52284448 52284448 G T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3886 p.Q1296K 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 PXDNL HGNC ENSG00000147485 48 0 0 19 4 17.3913 ATP6V1H 0 genome.wustl.edu 37 8 54742014 54742014 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 54742014 54742014 T A SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.296 p.D99V 1.000 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 102 0 0 54 11 16.9231 RP1 0 genome.wustl.edu 37 8 55537789 55537789 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 55537789 55537789 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.1347 p.P449 0.902 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 150 0 0 64 15 18.9873 MOS 0 genome.wustl.edu 37 8 57025637 57025637 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 57025637 57025637 G A SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.905 p.A302V 0.021 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 84 0 0 38 8 17.3913 MCPH1 0 genome.wustl.edu 37 8 6266828 6266828 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 6266828 6266828 A G SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.51 p.S17 0.983 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 128 0 0 40 4 9.09091 VCPIP1 0 genome.wustl.edu 37 8 67577678 67577678 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 67577678 67577678 T C SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1516 p.K506E 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 335 0 0 161 33 17.0103 SLCO5A1 0 genome.wustl.edu 37 8 70617426 70617426 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 70617426 70617426 G T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1462 p.L488I 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 139 0 0 61 10 14.0845 GDAP1 0 genome.wustl.edu 37 8 75276270 75276270 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 75276270 75276270 G A SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known missense c.745 p.V249I 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 102 0 0 35 7 16.6667 SGK223 0 genome.wustl.edu 37 8 8234263 8234263 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 8234263 8234263 T C SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.1656 p.V552 0.344 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 136 0 0 37 11 22.9167 SGK223 0 genome.wustl.edu 37 8 8234544 8234544 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 8234544 8234544 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1375 p.R459W 0.068 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 69 0 0 22 5 18.5185 FABP4 0 genome.wustl.edu 37 8 82391069 82391069 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 82391069 82391069 C T SNP FABP4 ENST00000518669 human ensembl 74_37 -1 known rna NULL NULL 0.933 - - - no_errors FABP4 HGNC ENSG00000170323 101 0 0 47 8 14.5455 RBM12B 0 genome.wustl.edu 37 8 94746562 94746562 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 94746562 94746562 G A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known nonsense c.2077 p.R693* 0.663 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 287 1 0.347222 148 29 16.3842 INTS8 0 genome.wustl.edu 37 8 95837172 95837172 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 95837172 95837172 C A SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.182 p.P61H 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 89 0 0 46 5 9.80392 KCNS2 0 genome.wustl.edu 37 8 99440481 99440481 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 99440481 99440481 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.274 p.V92I 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 198 1 0.502513 58 13 18.3099 ANKS6 0 genome.wustl.edu 37 9 101552769 101552769 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 101552769 101552769 A G SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.479 p.V160A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 56 0 0 14 3 17.6471 BAAT 0 genome.wustl.edu 37 9 104124952 104124952 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 104124952 104124952 G T SNP BAAT ENST00000259407 human ensembl 74_37 -1 known missense c.1015 p.Q339K 0.004 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 147 1 0.675676 67 17 20.2381 CTNNAL1 0 genome.wustl.edu 37 9 111746708 111746708 + Missense_Mutation SNP T T A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 111746708 111746708 T A SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.648 p.K216N 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 154 0 0 69 11 13.75 RGS3 0 genome.wustl.edu 37 9 116269637 116269637 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 116269637 116269637 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1156 p.G386R 0.771 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 87 0 0 24 6 20 C9orf91 0 genome.wustl.edu 37 9 117405501 117405501 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 117405501 117405501 C T SNP C9orf91 ENST00000374049 human ensembl 74_37 +1 known nonsense c.940 p.R314* 0.040 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 220 1 0.452489 73 15 17.0455 TNC 0 genome.wustl.edu 37 9 117846648 117846648 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 117846648 117846648 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.1971 p.T657 0.113 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 99 0 0 49 18 26.8657 TRIM32 0 genome.wustl.edu 37 9 119460295 119460295 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 119460295 119460295 A G SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known missense c.274 p.S92G 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 147 0 0 58 4 6.45161 OR1J4 0 genome.wustl.edu 37 9 125281745 125281745 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 125281745 125281745 A G SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.326 p.D109G 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC ENSG00000239590 210 0 0 113 24 17.5182 LRSAM1 0 genome.wustl.edu 37 9 130223460 130223460 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 130223460 130223460 C T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known silent c.330 p.N110 0.898 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 131 0 0 63 10 13.6986 SWI5 0 genome.wustl.edu 37 9 131038608 131038608 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 131038608 131038608 C T SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.184 p.P62S 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 45 0 0 14 6 30 MPDZ 0 genome.wustl.edu 37 9 13150616 13150616 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 13150616 13150616 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.3524 p.R1175Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 167 0 0 70 16 18.6047 FAM73B 0 genome.wustl.edu 37 9 131830576 131830576 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 131830576 131830576 C T SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.1369 p.R457W 0.981 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 57 0 0 39 8 17.0213 CRAT 0 genome.wustl.edu 37 9 131862207 131862207 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 131862207 131862207 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.1023 p.Y341 0.306 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 142 1 0.699301 47 14 22.9508 USP20 0 genome.wustl.edu 37 9 132630616 132630616 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 132630616 132630616 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known silent c.1023 p.S341 0.141 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 184 0 0 53 7 11.6667 GTF3C4 0 genome.wustl.edu 37 9 135553410 135553410 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 135553410 135553410 C T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.404 p.A135V 0.399 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 128 0 0 56 13 18.8406 MED22 0 genome.wustl.edu 37 9 136208458 136208458 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 136208458 136208458 G A SNP MED22 ENST00000343730 human ensembl 74_37 -1 known missense c.500 p.S167L 0.417 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 67 0 0 21 3 12.5 SNAPC4 0 genome.wustl.edu 37 9 139272011 139272011 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139272011 139272011 G T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.4268 p.A1423D 0.001 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 101 0 0 25 6 19.3548 SNAPC4 0 genome.wustl.edu 37 9 139287157 139287157 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139287157 139287157 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.705 p.G235 0.000 smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 145 0 0 76 11 12.6437 SEC16A 0 genome.wustl.edu 37 9 139358902 139358902 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139358902 139358902 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.4416 p.Q1472 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 66 0 0 23 3 11.5385 FAM69B 0 genome.wustl.edu 37 9 139612048 139612048 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139612048 139612048 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.83 p.R28K 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 54 0 0 18 6 25 ABCA2 0 genome.wustl.edu 37 9 139905597 139905597 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139905597 139905597 C T SNP ABCA2 ENST00000459850 human ensembl 74_37 -1 known silent c.6051 p.P2017 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 138 1 0.719424 36 7 16.2791 ABCA2 0 genome.wustl.edu 37 9 139907311 139907311 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 139907311 139907311 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.4934 p.A1645V 0.920 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 23 0 0 11 3 21.4286 TPRN 0 genome.wustl.edu 37 9 140093982 140093982 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 140093982 140093982 G A SNP TPRN ENST00000409012 human ensembl 74_37 -1 known silent c.1182 p.V394 0.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 12 0 0 5 2 28.5714 PNPLA7 0 genome.wustl.edu 37 9 140355976 140355976 + RNA SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 140355976 140355976 G A SNP PNPLA7 ENST00000469998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 49 0 0 17 5 22.7273 ARRDC1 0 genome.wustl.edu 37 9 140508544 140508544 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 140508544 140508544 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known missense c.496 p.V166M 0.924 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 240 0 0 98 21 17.6471 FREM1 0 genome.wustl.edu 37 9 14813042 14813042 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 14813042 14813042 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.2664 p.E888 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 185 0 0 71 20 21.978 SMARCA2 0 genome.wustl.edu 37 9 2110347 2110347 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 2110347 2110347 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3386 p.G1129D 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 122 0 0 43 3 6.52174 IFNA13 0 genome.wustl.edu 37 9 21367455 21367455 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 21367455 21367455 T C SNP IFNA13 ENST00000449498 human ensembl 74_37 -1 known silent c.555 p.R185 0.037 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA13 HGNC ENSG00000233816 295 0 0 136 12 8.10811 KIAA0020 0 genome.wustl.edu 37 9 2829847 2829847 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 2829847 2829847 T C SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.779 p.N260S 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 404 0 0 172 35 16.9082 RFX3 0 genome.wustl.edu 37 9 3225156 3225156 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 3225156 3225156 G A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known silent c.2136 p.L712 0.147 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 66 0 0 34 7 17.0732 SMU1 0 genome.wustl.edu 37 9 33073797 33073797 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 33073797 33073797 G A SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.34 p.R12C 1.000 smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 95 0 0 35 8 18.6047 TLN1 0 genome.wustl.edu 37 9 35713993 35713993 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 35713993 35713993 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3206 p.A1069V 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 137 0 0 58 6 9.375 ZCCHC7 0 genome.wustl.edu 37 9 37126323 37126323 + RNA SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 37126323 37126323 A C SNP ZCCHC7 ENST00000461038 human ensembl 74_37 +1 known rna NULL NULL 0.466 - - - no_errors ZCCHC7 HGNC ENSG00000147905 167 0 0 94 15 13.7615 GLIS3 0 genome.wustl.edu 37 9 4118080 4118080 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 4118080 4118080 C T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.1398 p.A466 0.741 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 74 0 0 32 9 21.9512 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 113 0 0 68 8 10.5263 TRPM3 0 genome.wustl.edu 37 9 73233803 73233803 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 73233803 73233803 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.2383 p.R795C 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 78 0 0 41 7 14.5833 PCSK5 0 genome.wustl.edu 37 9 78803568 78803568 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 78803568 78803568 A G SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.2357 p.H786R 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 164 0 0 55 9 14.0625 PCSK5 0 genome.wustl.edu 37 9 78925658 78925658 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 78925658 78925658 A G SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.3694 p.T1232A 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 38 0 0 29 3 9.375 PCSK5 0 genome.wustl.edu 37 9 78936358 78936358 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 78936358 78936358 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.3824 p.G1275D 0.002 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 98 0 0 44 6 12 CDK20 0 genome.wustl.edu 37 9 90585494 90585494 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 90585494 90585494 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.552 p.G184 0.926 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK20 HGNC ENSG00000156345 59 0 0 19 6 24 ASPN 0 genome.wustl.edu 37 9 95228784 95228784 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 95228784 95228784 G A SNP ASPN ENST00000375544 human ensembl 74_37 -1 known nonsense c.457 p.R153* 0.996 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 243 0 0 107 18 14.4 WWC3 0 genome.wustl.edu 37 X 10077877 10077877 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 10077877 10077877 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.791 p.A264V 0.996 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 344 0 0 91 18 16.5138 TCEAL7 0 genome.wustl.edu 37 X 102586399 102586399 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 102586399 102586399 G A SNP TCEAL7 ENST00000332431 human ensembl 74_37 +1 known missense c.68 p.R23H 0.001 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL7 HGNC ENSG00000182916 54 0 0 12 5 29.4118 MID2 0 genome.wustl.edu 37 X 107169389 107169389 + Nonsense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 107169389 107169389 C T SNP MID2 ENST00000262843 human ensembl 74_37 +1 known nonsense c.1663 p.Q555* 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 205 0 0 102 24 19.0476 COL4A6 0 genome.wustl.edu 37 X 107423838 107423838 + Nonsense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 107423838 107423838 G A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known nonsense c.2041 p.R681* 0.002 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 36 0 0 24 3 11.1111 GUCY2F 0 genome.wustl.edu 37 X 108635326 108635326 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 108635326 108635326 A G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2595 p.V865 0.999 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 140 0 0 44 9 16.9811 SLC25A43 0 genome.wustl.edu 37 X 118540544 118540544 + Silent SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 118540544 118540544 C A SNP SLC25A43 ENST00000217909 human ensembl 74_37 +1 known silent c.397 p.R133 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A43 HGNC ENSG00000077713 129 0 0 62 20 24.3902 TENM1 0 genome.wustl.edu 37 X 123787483 123787483 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 123787483 123787483 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1319 p.S440Y 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 306 0 0 147 26 15.0289 BCORL1 0 genome.wustl.edu 37 X 129147983 129147983 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 129147983 129147983 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.1235 p.P412L 0.990 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 66 0 0 17 7 29.1667 ZNF280C 0 genome.wustl.edu 37 X 129364678 129364678 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 129364678 129364678 A G SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known silent c.795 p.T265 0.006 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 145 0 0 48 12 20 TLR8 0 genome.wustl.edu 37 X 12939421 12939421 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 12939421 12939421 C T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known silent c.2262 p.S754 0.001 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 208 0 0 95 28 22.7642 ARHGAP36 0 genome.wustl.edu 37 X 130222661 130222661 + Nonsense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 130222661 130222661 G T SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known nonsense c.1546 p.G516* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 67 0 0 24 4 14.2857 HS6ST2 0 genome.wustl.edu 37 X 132092382 132092382 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 132092382 132092382 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.249 p.C83 0.998 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 33 0 0 8 3 27.2727 FAM127C 0 genome.wustl.edu 37 X 134156235 134156235 + Missense_Mutation SNP C C A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 134156235 134156235 C A SNP FAM127C ENST00000391440 human ensembl 74_37 -1 known missense c.255 p.K85N 0.837 NULL NULL - no_errors FAM127C HGNC ENSG00000212747 144 0 0 46 12 20.6897 MAGEA11 0 genome.wustl.edu 37 X 148797716 148797716 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 148797716 148797716 G A SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known silent c.570 p.G190 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 124 0 0 66 20 23.2558 MAGEA10 0 genome.wustl.edu 37 X 151303922 151303922 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 151303922 151303922 A G SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known silent c.171 p.S57 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 153 1 0.649351 89 19 17.5926 CETN2 0 genome.wustl.edu 37 X 151997576 151997576 + RNA SNP T T G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 151997576 151997576 T G SNP CETN2 ENST00000493482 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CETN2 HGNC ENSG00000147400 40 0 0 30 6 16.6667 FAM58A 0 genome.wustl.edu 37 X 152860096 152860096 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 152860096 152860096 C T SNP FAM58A ENST00000406277 human ensembl 74_37 -1 known missense c.332 p.R111H 0.681 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 113 0 0 55 8 12.6984 L1CAM 0 genome.wustl.edu 37 X 153128940 153128940 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 153128940 153128940 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.3528 p.G1176 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 78 0 0 20 10 33.3333 AVPR2 0 genome.wustl.edu 37 X 153171714 153171714 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 153171714 153171714 C T SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.754 p.R252W 0.706 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 140 1 0.70922 43 13 23.2143 HCFC1 0 genome.wustl.edu 37 X 153228708 153228708 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 153228708 153228708 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.680 p.C227Y 1.000 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 239 1 0.416667 112 11 8.94309 UBL4A 0 genome.wustl.edu 37 X 153714222 153714222 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 153714222 153714222 G A SNP UBL4A ENST00000369660 human ensembl 74_37 -1 known missense c.251 p.A84V 0.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBL4A HGNC ENSG00000102178 311 0 0 112 26 18.8406 P2RY8 0 genome.wustl.edu 37 X 1584880 1584880 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 1584880 1584880 G A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.572 p.A191V 0.959 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 64 0 0 35 5 12.5 GRPR 0 genome.wustl.edu 37 X 16142438 16142438 + Missense_Mutation SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 16142438 16142438 T C SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.362 p.L121P 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 215 0 0 90 23 20.354 CTPS2 0 genome.wustl.edu 37 X 16717193 16717193 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 16717193 16717193 C T SNP CTPS2 ENST00000359276 human ensembl 74_37 -1 known missense c.190 p.G64S 1.000 pfam_CTP_synthase_N,superfamily_P-loop_NTPase,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 250 0 0 126 20 13.6986 SYAP1 0 genome.wustl.edu 37 X 16778386 16778386 + Missense_Mutation SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 16778386 16778386 G T SNP SYAP1 ENST00000380155 human ensembl 74_37 +1 known missense c.963 p.Q321H 0.970 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 192 0 0 108 25 18.797 SH3KBP1 0 genome.wustl.edu 37 X 19610206 19610206 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 19610206 19610206 G A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1117 p.P373S 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 237 0 0 73 17 18.8889 PTCHD1 0 genome.wustl.edu 37 X 23397938 23397938 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 23397938 23397938 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known silent c.582 p.G194 0.316 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 303 0 0 148 14 8.64198 ZFX 0 genome.wustl.edu 37 X 24226349 24226349 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 24226349 24226349 G A SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.987 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 156 0 0 58 14 19.4444 DCAF8L1 0 genome.wustl.edu 37 X 27999217 27999217 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 27999217 27999217 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.235 p.V79I 0.458 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 264 0 0 110 17 13.3858 MAGEB1 0 genome.wustl.edu 37 X 30269409 30269409 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 30269409 30269409 C T SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.799 p.R267C 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 175 0 0 54 15 21.7391 DMD 0 genome.wustl.edu 37 X 31986498 31986498 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 31986498 31986498 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6572 p.R2191Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 252 0 0 88 21 19.2661 DMD 0 genome.wustl.edu 37 X 32481587 32481587 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 32481587 32481587 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3401 p.L1134R 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 35 0 0 23 7 23.3333 CYBB 0 genome.wustl.edu 37 X 37655252 37655252 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 37655252 37655252 A G SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.532 p.T178A 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 162 0 0 74 6 7.5 MED14 0 genome.wustl.edu 37 X 40522275 40522275 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 40522275 40522275 G A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.3586 p.P1196S 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 65 0 0 23 4 14.8148 ZNF674 0 genome.wustl.edu 37 X 46387797 46387797 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 46387797 46387797 G A SNP ZNF674 ENST00000523374 human ensembl 74_37 -1 known missense c.226 p.R76W 0.000 pfscan_Krueppel-associated_box 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 ZNF674 HGNC ENSG00000251192 186 1 0.534759 62 17 21.519 TBC1D25 0 genome.wustl.edu 37 X 48417659 48417659 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 48417659 48417659 C T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known silent c.630 p.H210 0.493 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 56 0 0 16 7 30.4348 HDAC6 0 genome.wustl.edu 37 X 48674553 48674553 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 48674553 48674553 A G SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.1541 p.H514R 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 216 0 0 68 18 20.9302 PQBP1 0 genome.wustl.edu 37 X 48759692 48759692 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 48759692 48759692 C T SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.475 p.R159W 0.613 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 52 0 0 22 5 18.5185 WDR45 0 genome.wustl.edu 37 X 48933234 48933234 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 48933234 48933234 C T SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known missense c.728 p.R243H 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 91 0 0 34 5 12.8205 GPKOW 0 genome.wustl.edu 37 X 48973467 48973467 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 48973467 48973467 A G SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.830 p.V277A 0.000 superfamily_Translation_prot_SH3-like pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 128 0 0 50 6 10.7143 DGKK 0 genome.wustl.edu 37 X 50136226 50136226 + RNA SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 50136226 50136226 C T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.526 - - - no_errors DGKK HGNC ENSG00000204466 76 0 0 17 12 41.3793 KDM5C 0 genome.wustl.edu 37 X 53240993 53240993 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 53240993 53240993 A G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.1218 p.A406 0.467 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 52 0 0 32 7 17.9487 IQSEC2 0 genome.wustl.edu 37 X 53279577 53279577 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 53279577 53279577 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.2181 p.T727 0.195 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 57 0 0 23 9 28.125 FAM120C 0 genome.wustl.edu 37 X 54209257 54209257 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 54209257 54209257 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known silent c.375 p.A125 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 49 0 0 8 4 33.3333 PFKFB1 0 genome.wustl.edu 37 X 54986275 54986275 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 54986275 54986275 C T SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known silent c.369 p.E123 1.000 pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 47 0 0 13 4 23.5294 ALAS2 0 genome.wustl.edu 37 X 55042055 55042055 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 55042055 55042055 C T SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1124 p.R375H 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 90 0 0 46 6 11.5385 ALAS2 0 genome.wustl.edu 37 X 55052394 55052394 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 55052394 55052394 G A SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.40 p.L14F 0.217 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 61 0 0 36 7 16.2791 USP51 0 genome.wustl.edu 37 X 55515175 55515175 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 55515175 55515175 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.198 p.P66 0.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 99 0 0 19 5 20.8333 NLGN4X 0 genome.wustl.edu 37 X 5821701 5821701 + Missense_Mutation SNP A A T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 5821701 5821701 A T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1078 p.F360I 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 210 0 0 80 8 9.09091 MSN 0 genome.wustl.edu 37 X 64887722 64887722 + Splice_Site SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 64887722 64887722 T C SNP MSN ENST00000360270 human ensembl 74_37 +1 known splice_site c.12+2 e1+2 1.000 - - - no_errors MSN HGNC ENSG00000147065 44 0 0 22 5 18.5185 RAB41 0 genome.wustl.edu 37 X 69502190 69502190 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 69502190 69502190 C T SNP RAB41 ENST00000374473 human ensembl 74_37 +1 known silent c.123 p.S41 0.007 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB41 HGNC ENSG00000147127 122 0 0 37 5 11.9048 SLC7A3 0 genome.wustl.edu 37 X 70149828 70149828 + Missense_Mutation SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70149828 70149828 C T SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.20 p.R7H 0.969 tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 118 0 0 55 9 14.0625 FOXO4 0 genome.wustl.edu 37 X 70316714 70316714 + Splice_Site SNP G G T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70316714 70316714 G T SNP FOXO4 ENST00000341558 human ensembl 74_37 +1 known splice_site c.172-1 e2-1 1.000 - - - no_errors FOXO4 HGNC ENSG00000184481 25 0 0 13 4 23.5294 CXorf65 0 genome.wustl.edu 37 X 70326403 70326403 + Missense_Mutation SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70326403 70326403 A G SNP CXorf65 ENST00000374251 human ensembl 74_37 -1 known missense c.4 p.F2L 0.904 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 274 0 0 110 18 14.0625 MED12 0 genome.wustl.edu 37 X 70356410 70356410 + Missense_Mutation SNP A A C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70356410 70356410 A C SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.5305 p.T1769P 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 27 0 0 7 3 30 MED12 0 genome.wustl.edu 37 X 70360614 70360614 + Silent SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70360614 70360614 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6183 p.Q2061 0.999 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 127 0 0 68 4 5.55556 MED12 0 genome.wustl.edu 37 X 70360623 70360623 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70360623 70360623 A G SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6192 p.Q2064 0.903 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 114 0 0 59 7 10.6061 MED12 0 genome.wustl.edu 37 X 70360647 70360647 + Silent SNP A A G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 70360647 70360647 A G SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6216 p.Q2072 0.341 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 77 0 0 52 6 10.3448 ATP7A 0 genome.wustl.edu 37 X 77267084 77267084 + Silent SNP T T C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 77267084 77267084 T C SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.2085 p.L695 0.989 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 386 0 0 186 31 14.2857 NAP1L3 0 genome.wustl.edu 37 X 92927974 92927974 + Silent SNP C C T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 92927974 92927974 C T SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.330 p.A110 0.681 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 63 0 0 33 4 10.8108 TNMD 0 genome.wustl.edu 37 X 99854133 99854133 + Missense_Mutation SNP G G A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 99854133 99854133 G A SNP TNMD ENST00000373031 human ensembl 74_37 +1 known missense c.698 p.R233H 0.998 NULL pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 59 0 0 21 4 16 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 44 0 0 27 8 22.8571 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 85 0 0 53 7 11.6667 CSDE1 0 genome.wustl.edu 37 1 115280605 115280608 + Frame_Shift_Del DEL AGGG AGGG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AGGG AGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 115280605 115280608 AGGG - DEL CSDE1 ENST00000369530 human ensembl 74_37 -1 known frame_shift_del c.426_423 p.P142fs 1.000:1.000:1.000:0.999 superfamily_NA-bd_OB-fold pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 193 0 0 85 7 7.6087 TTF2 0 genome.wustl.edu 37 1 117644048 117644049 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 117644048 117644049 - A INS TTF2 ENST00000369466 human ensembl 74_37 +1 known frame_shift_ins c.3391_3392 p.K1134fs 0.994:0.536 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 239 0 0 127 21 14.1892 RPRD2 0 genome.wustl.edu 37 1 150443735 150443735 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 150443735 150443735 C - DEL RPRD2 ENST00000369068 human ensembl 74_37 +1 known frame_shift_del c.2311 p.P772fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 82 0 0 39 5 11.3636 CDC42SE1 0 genome.wustl.edu 37 1 151028059 151028059 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 151028059 151028059 T - DEL CDC42SE1 ENST00000491825 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC42SE1 HGNC ENSG00000197622 9 0 0 8 2 20 CREB3L4 0 genome.wustl.edu 37 1 153946103 153946103 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 153946103 153946103 T - DEL CREB3L4 ENST00000271889 human ensembl 74_37 +1 known frame_shift_del c.905 p.S304fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC ENSG00000143578 36 0 0 14 5 26.3158 DEDD 0 genome.wustl.edu 37 1 161091815 161091816 + RNA DEL AA AA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 161091815 161091816 AA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 49 0 0 21 6 22.2222 UAP1 0 genome.wustl.edu 37 1 162549290 162549290 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 162549290 162549290 A - DEL UAP1 ENST00000271469 human ensembl 74_37 +1 known frame_shift_del c.558 p.E189fs 0.998 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 108 0 0 55 8 12.6984 HMCN1 0 genome.wustl.edu 37 1 186086701 186086701 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 186086701 186086701 A - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.11794 p.N3933fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 157 0 0 88 18 16.9811 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 70 0 0 33 6 15.3846 HSPG2 0 genome.wustl.edu 37 1 22176669 22176669 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 22176669 22176669 G - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.7311 p.T2438fs 0.850 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 162 0 0 70 13 15.6627 FBXO28 0 genome.wustl.edu 37 1 224301979 224301980 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 224301979 224301980 - C INS FBXO28 ENST00000366862 human ensembl 74_37 +1 known frame_shift_ins c.148_149 p.A52fs 0.000:0.004 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 15 0 0 4 2 33.3333 CCSAP 0 genome.wustl.edu 37 1 229462512 229462514 + In_Frame_Del DEL GTT GTT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 229462512 229462514 GTT - DEL CCSAP ENST00000284617 human ensembl 74_37 -1 known in_frame_del c.609_607 p.N203in_frame_del 0.082:0.991:0.998 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 179 1 0.555556 94 14 12.963 OR14I1 0 genome.wustl.edu 37 1 248844882 248844882 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 248844882 248844882 G - DEL OR14I1 ENST00000342623 human ensembl 74_37 -1 known frame_shift_del c.724 p.Q242fs 0.920 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 182 0 0 81 9 10 CNKSR1 0 genome.wustl.edu 37 1 26514777 26514778 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 26514777 26514778 - C INS CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_ins c.1528_1529 p.P513fs 0.000:0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 155 0 0 48 11 18.6441 WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 78 0 0 29 11 27.5 CD164L2 0 genome.wustl.edu 37 1 27708756 27708756 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 27708756 27708756 G - DEL CD164L2 ENST00000374025 human ensembl 74_37 -1 known frame_shift_del c.390 p.R131fs 0.058 NULL pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 85 0 0 38 7 15.5556 MEGF6 0 genome.wustl.edu 37 1 3418429 3418429 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 3418429 3418429 C - DEL MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_del c.2245 p.A749fs 0.930 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 105 0 0 36 7 16.2791 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 104 1 0.952381 50 16 24.2424 CCDC27 0 genome.wustl.edu 37 1 3688024 3688025 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 3688024 3688025 - C INS CCDC27 ENST00000294600 human ensembl 74_37 +1 known frame_shift_ins c.1908_1909 p.L638fs 0.063:0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 258 0 0 87 6 6.45161 LRRC41 0 genome.wustl.edu 37 1 46751494 46751495 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 46751494 46751495 - G INS LRRC41 ENST00000343304 human ensembl 74_37 -1 known frame_shift_ins c.1035_1034 p.A346fs 0.611:0.616 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 136 0 0 62 7 10.1449 NDC1 0 genome.wustl.edu 37 1 54291559 54291559 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 54291559 54291559 A - DEL NDC1 ENST00000371429 human ensembl 74_37 -1 known frame_shift_del c.506 p.F169fs 0.998 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors NDC1 HGNC ENSG00000058804 145 0 0 78 12 13.3333 HOOK1 0 genome.wustl.edu 37 1 60314140 60314140 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 60314140 60314140 A - DEL HOOK1 ENST00000371208 human ensembl 74_37 +1 known frame_shift_del c.1083 p.A364fs 0.150 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 148 0 0 88 11 11.1111 DOCK7 0 genome.wustl.edu 37 1 63090936 63090936 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 63090936 63090936 A - DEL DOCK7 ENST00000251157 human ensembl 74_37 -1 known frame_shift_del c.1419 p.F473fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 236 0 0 102 30 22.7273 PKN2 0 genome.wustl.edu 37 1 89298819 89298819 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 89298819 89298819 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.2730 p.K912fs 0.032 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 79 0 0 24 3 11.1111 GBP3 0 genome.wustl.edu 37 1 89473442 89473442 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 89473442 89473442 T - DEL GBP3 ENST00000370481 human ensembl 74_37 -1 known frame_shift_del c.1753 p.T585fs 0.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 255 2 0.77821 105 14 11.7647 ABCA4 0 genome.wustl.edu 37 1 94497458 94497458 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 94497458 94497458 G - DEL ABCA4 ENST00000370225 human ensembl 74_37 -1 known frame_shift_del c.4004 p.P1335fs 0.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 132 1 0.75188 53 10 15.873 LZIC 0 genome.wustl.edu 37 1 9990467 9990468 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 1 9990467 9990468 - T INS LZIC ENST00000541052 human ensembl 74_37 -1 known frame_shift_ins c.626_625 p.T209fs 0.999:0.998 pfam_ICAT pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 648 0 0 214 38 15.0794 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 310 2 0.641026 75 11 12.7907 WDR37 0 genome.wustl.edu 37 10 1170870 1170870 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 1170870 1170870 A - DEL WDR37 ENST00000263150 human ensembl 74_37 +1 known frame_shift_del c.1259 p.I422fs 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 102 0 0 25 4 13.7931 SEC23IP 0 genome.wustl.edu 37 10 121674229 121674229 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 121674229 121674229 T - DEL SEC23IP ENST00000462222 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SEC23IP HGNC ENSG00000107651 170 1 0.584795 101 21 17.2131 FAM175B 0 genome.wustl.edu 37 10 126517968 126517969 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 126517968 126517969 - T INS FAM175B ENST00000298492 human ensembl 74_37 +1 known frame_shift_ins c.585_586 p.D197fs 1.000:1.000 NULL prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 117 0 0 64 6 8.57143 MYO3A 0 genome.wustl.edu 37 10 26385330 26385330 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 26385330 26385330 T - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.1583 p.Y530fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 69 0 0 22 9 29.0323 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 41 0 0 12 10 45.4545 HK1 0 genome.wustl.edu 37 10 71144463 71144464 + RNA DEL GT GT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 71144463 71144464 GT - DEL HK1 ENST00000494253 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors HK1 HGNC ENSG00000156515 87 0 0 55 14 20.2899 PALD1 0 genome.wustl.edu 37 10 72299505 72299505 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 72299505 72299505 C - DEL PALD1 ENST00000263563 human ensembl 74_37 +1 known frame_shift_del c.1895 p.R634fs 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 122 0 0 44 10 18.5185 ZSWIM8 0 genome.wustl.edu 37 10 75560464 75560464 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 10 75560464 75560464 C - DEL ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known frame_shift_del c.5093 p.Y1701fs 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 242 0 0 82 15 15.4639 MUC6 0 genome.wustl.edu 37 11 1016540 1016543 + Frame_Shift_Del DEL GAAG GAAG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GAAG GAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 1016540 1016543 GAAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6261_6258 p.F2087fs 0.000:0.000:0.000:0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 476 0 0 165 22 11.7647 ATM 0 genome.wustl.edu 37 11 108114816 108114817 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 108114816 108114817 - T INS ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_ins c.633_634 p.S213fs 0.765:0.976 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 79 0 0 56 8 12.5 KMT2A 0 genome.wustl.edu 37 11 118344185 118344186 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 118344185 118344186 - C INS KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_ins c.2311_2312 p.S774fs 1.000:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 314 0 0 125 29 18.8312 TMEM25 0 genome.wustl.edu 37 11 118405013 118405015 + In_Frame_Del DEL AAC AAC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 118405013 118405015 AAC - DEL TMEM25 ENST00000533102 human ensembl 74_37 +1 known in_frame_del c.967_969 p.N324in_frame_del 0.001:0.022:0.032 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 135 0 0 22 7 24.1379 UPK2 0 genome.wustl.edu 37 11 118827661 118827661 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 118827661 118827661 C - DEL UPK2 ENST00000264031 human ensembl 74_37 +1 known frame_shift_del c.145 p.C51fs 0.973 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 180 0 0 56 11 16.4179 MCAM 0 genome.wustl.edu 37 11 119185617 119185618 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 119185617 119185618 - G INS MCAM ENST00000264036 human ensembl 74_37 -1 known frame_shift_ins c.326_325 p.Q109fs 0.771:0.905 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 250 0 0 86 14 14 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 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 OR8D4 HGNC ENSG00000181518 423 1 0.235849 201 27 11.8421 MUC5B 0 genome.wustl.edu 37 11 1251244 1251245 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 1251244 1251245 - G INS MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_ins c.1239_1240 p.L415fs 0.000:0.000 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,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_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 101 0 0 36 11 23.4043 PRDM10 0 genome.wustl.edu 37 11 129780428 129780429 + In_Frame_Ins INS - - CTG TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 129780428 129780429 - CTG INS PRDM10 ENST00000358825 human ensembl 74_37 -1 known in_frame_ins c.3118_3117 p.1039in_frame_insQ 0.011:0.107 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 111 0 0 33 2 5.71429 KRTAP5-5 0 genome.wustl.edu 37 11 1651497 1651497 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 1651497 1651497 G - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_del c.427 p.S145fs 0.965 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 306 0 0 79 15 15.9574 PLEKHA7 0 genome.wustl.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 16822525 16822525 A - DEL PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known frame_shift_del c.2405 p.F802fs 0.999 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 344 1 0.289855 112 23 17.037 WT1-AS 0 genome.wustl.edu 37 11 32460527 32460527 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 32460527 32460527 A - DEL WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 111 0 0 39 6 13.3333 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 63 0 0 31 5 13.8889 HIPK3 0 genome.wustl.edu 37 11 33358692 33358693 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 33358692 33358693 - T INS HIPK3 ENST00000303296 human ensembl 74_37 +1 known frame_shift_ins c.1293_1294 p.C433fs 1.000:1.000 pfam_Prot_kinase_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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 60 0 0 23 9 28.125 AMBRA1 0 genome.wustl.edu 37 11 46564574 46564575 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 46564574 46564575 - G INS AMBRA1 ENST00000458649 human ensembl 74_37 -1 known frame_shift_ins c.993_992 p.A332fs 1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 76 0 0 34 6 15 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 95 0 0 26 6 18.75 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405179 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 61405179 61405179 A - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RPLP0P2 HGNC ENSG00000243742 20 0 0 13 6 31.5789 PLCB3 0 genome.wustl.edu 37 11 64032517 64032517 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 64032517 64032517 C - DEL PLCB3 ENST00000279230 human ensembl 74_37 +1 known frame_shift_del c.2747 p.R918fs 0.006 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 25 0 0 8 5 38.4615 KAT5 0 genome.wustl.edu 37 11 65480453 65480454 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 65480453 65480454 - C INS KAT5 ENST00000341318 human ensembl 74_37 +1 known frame_shift_ins c.308_309 p.K105fs 1.000:1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 235 0 0 84 17 16.8317 KLC2 0 genome.wustl.edu 37 11 66033656 66033656 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 66033656 66033656 G - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1695 p.G567fs 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 143 1 0.694444 37 9 19.5652 ENSG00000256518 0 genome.wustl.edu 37 11 71870036 71870036 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 71870036 71870036 A - DEL ENSG00000256518 ENST00000542477 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RP11-807H22.5 Clone_based_vega_gene ENSG00000256518 198 0 0 63 10 13.6986 TSKU 0 genome.wustl.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 76506673 76506675 CTG - DEL TSKU ENST00000333090 human ensembl 74_37 +1 known in_frame_del c.13_15 p.L8in_frame_del 0.997:1.000:0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 104 0 0 48 4 7.69231 CYB5R2 0 genome.wustl.edu 37 11 7694036 7694037 + Frame_Shift_Del DEL CT CT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 7694036 7694037 CT - DEL CYB5R2 ENST00000299498 human ensembl 74_37 -1 known frame_shift_del c.21_20 p.E7fs 0.000:0.000 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 115 0 0 32 7 17.9487 RSF1 0 genome.wustl.edu 37 11 77413116 77413116 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 77413116 77413116 T - DEL RSF1 ENST00000308488 human ensembl 74_37 -1 known frame_shift_del c.1158 p.K386fs 0.995 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 113 0 0 71 11 13.4146 FAT3 0 genome.wustl.edu 37 11 92258088 92258089 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 92258088 92258089 - T INS FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_ins c.3581_3582 p.A1197fs 1.000:0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 90 0 0 26 8 23.5294 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 38 0 0 29 4 12.1212 AP2A2 0 genome.wustl.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 11 970195 970195 A - DEL AP2A2 ENST00000332231 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 257 1 0.387597 87 15 14.7059 TAS2R8 0 genome.wustl.edu 37 12 10958846 10958846 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 10958846 10958846 A - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.734 p.F245fs 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 69 0 0 52 10 16.129 TAS2R42 0 genome.wustl.edu 37 12 11338798 11338799 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 11338798 11338799 - A INS TAS2R42 ENST00000334266 human ensembl 74_37 -1 known frame_shift_ins c.746_745 p.S249fs 0.000:0.015 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 140 1 0.70922 50 8 13.7931 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 205 0 0 111 21 15.9091 TESPA1 0 genome.wustl.edu 37 12 55357624 55357624 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 55357624 55357624 A - DEL TESPA1 ENST00000316577 human ensembl 74_37 -1 known frame_shift_del c.557 p.F186fs 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 156 0 0 51 13 20.3125 ARHGAP9 0 genome.wustl.edu 37 12 57870384 57870384 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 57870384 57870384 C - DEL ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known frame_shift_del c.1014 p.R339fs 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 273 1 0.364964 123 15 10.8696 USP15 0 genome.wustl.edu 37 12 62687993 62687994 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 62687993 62687994 - A INS USP15 ENST00000280377 human ensembl 74_37 +1 known frame_shift_ins c.123_124 p.Y43fs 1.000:1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 78 0 0 51 6 10.5263 NCAPD2 0 genome.wustl.edu 37 12 6635473 6635473 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 6635473 6635473 C - DEL NCAPD2 ENST00000315579 human ensembl 74_37 +1 known frame_shift_del c.2502 p.F837fs 0.789 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 208 0 0 60 14 18.9189 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 89 0 0 35 7 16.6667 CHD4 0 genome.wustl.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 12 6711546 6711546 T - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.218 p.K73fs 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 523 0 0 284 53 15.727 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 31 0 0 23 6 20.6897 NBEA 0 genome.wustl.edu 37 13 35733662 35733663 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 35733662 35733663 - A INS NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_ins c.3354_3355 p.N1120fs 1.000:1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 78 0 0 22 10 31.25 SPG20 0 genome.wustl.edu 37 13 36909272 36909272 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 36909272 36909272 A - DEL SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_del c.696 p.F232fs 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 150 0 0 48 19 28.3582 PCDH20 0 genome.wustl.edu 37 13 61986570 61986571 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 61986570 61986571 - A INS PCDH20 ENST00000409186 human ensembl 74_37 -1 known frame_shift_ins c.1662_1661 p.L554fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 268 0 0 90 29 24.3697 UBAC2 0 genome.wustl.edu 37 13 99966382 99966382 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 13 99966382 99966382 T - DEL UBAC2 ENST00000376440 human ensembl 74_37 +1 known frame_shift_del c.316 p.Y107fs 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC2 HGNC ENSG00000134882 227 0 0 111 14 11.2 MIR494 0 genome.wustl.edu 37 14 101496040 101496040 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 101496040 101496040 T - DEL MIR494 ENST00000349529 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors MIR494 HGNC ENSG00000194717 67 0 0 28 11 28.2051 PPP1R13B 0 genome.wustl.edu 37 14 104216136 104216136 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 104216136 104216136 T - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.964 p.I322fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 134 0 0 40 18 31.0345 AHNAK2 0 genome.wustl.edu 37 14 105419812 105419812 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 105419812 105419812 T - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.1976 p.K659fs 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 431 0 0 199 29 12.7193 ECRP 0 genome.wustl.edu 37 14 21387987 21387987 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 21387987 21387987 A - DEL ECRP ENST00000258817 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-84C10.2 Clone_based_vega_gene ENSG00000136315 60 0 0 23 4 14.8148 IPO4 0 genome.wustl.edu 37 14 24652234 24652234 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 24652234 24652234 G - DEL IPO4 ENST00000354464 human ensembl 74_37 -1 known frame_shift_del c.2369 p.P790fs 0.998 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 129 0 0 57 9 13.6364 NFATC4 0 genome.wustl.edu 37 14 24838800 24838800 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 24838800 24838800 C - DEL NFATC4 ENST00000413692 human ensembl 74_37 +1 known frame_shift_del c.385 p.P130fs 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 278 0 0 116 25 17.7305 ARHGAP5 0 genome.wustl.edu 37 14 32562345 32562346 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 32562345 32562346 - A INS ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_ins c.2470_2471 p.R826fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 140 0 0 113 11 8.87097 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 37 0 0 12 3 20 CNIH1 0 genome.wustl.edu 37 14 54896992 54896992 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 54896992 54896992 A - DEL CNIH1 ENST00000216416 human ensembl 74_37 -1 known frame_shift_del c.394 p.Y132fs 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH1 HGNC ENSG00000100528 69 0 0 35 20 36.3636 YLPM1 0 genome.wustl.edu 37 14 75265533 75265533 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 75265533 75265533 A - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.3533 p.M1180fs 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 131 0 0 50 5 9.09091 ENSG00000258407 0 genome.wustl.edu 37 14 88477180 88477180 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 88477180 88477180 A - DEL ENSG00000258407 ENST00000554433 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-300J18.2 Clone_based_vega_gene ENSG00000258407 81 0 0 44 8 15.3846 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 97 0 0 48 17 26.1538 NIPA2 0 genome.wustl.edu 37 15 23021239 23021239 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 23021239 23021239 T - DEL NIPA2 ENST00000337451 human ensembl 74_37 -1 known frame_shift_del c.98 p.K33fs 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 215 0 0 77 23 23 HERC2 0 genome.wustl.edu 37 15 28386693 28386693 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 28386693 28386693 C - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.11900 p.G3967fs 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 189 1 0.526316 83 19 18.6275 SLC30A4 0 genome.wustl.edu 37 15 45803424 45803426 + In_Frame_Del DEL GTC GTC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 45803424 45803426 GTC - DEL SLC30A4 ENST00000261867 human ensembl 74_37 -1 known in_frame_del c.450_448 p.D150in_frame_del 0.998:1.000:1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 518 0 0 203 28 12.1212 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 103 0 0 40 9 18.3673 VPS13C 0 genome.wustl.edu 37 15 62208112 62208112 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 62208112 62208112 T - DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.8165 p.N2722fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 110 0 0 60 9 13.0435 TRIP4 0 genome.wustl.edu 37 15 64686305 64686305 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 64686305 64686305 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.262 p.D90fs 0.948 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 59 0 0 39 8 17.0213 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 361 1 0.276243 90 44 32.8358 NEIL1 0 genome.wustl.edu 37 15 75644674 75644674 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 75644674 75644674 C - DEL NEIL1 ENST00000355059 human ensembl 74_37 +1 known frame_shift_del c.564 p.F191fs 1.000 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 209 0 0 64 19 22.8916 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 261 1 0.381679 102 24 19.0476 IL16 0 genome.wustl.edu 37 15 81598461 81598462 + Frame_Shift_Del DEL CT CT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 81598461 81598462 CT - DEL IL16 ENST00000302987 human ensembl 74_37 +1 known frame_shift_del c.3633_3634 p.S1212fs 0.001:0.004 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 233 0 0 94 18 16.0714 TICRR 0 genome.wustl.edu 37 15 90168411 90168411 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 90168411 90168411 C - DEL TICRR ENST00000268138 human ensembl 74_37 +1 known frame_shift_del c.4870 p.C1626fs 0.955 NULL NULL - no_errors TICRR HGNC ENSG00000140534 100 0 0 33 6 15.3846 KIF7 0 genome.wustl.edu 37 15 90171812 90171812 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 15 90171812 90171812 G - DEL KIF7 ENST00000394412 human ensembl 74_37 -1 known frame_shift_del c.3870 p.E1291fs 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 128 0 0 51 7 12.069 TVP23A 0 genome.wustl.edu 37 16 10867202 10867203 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 10867202 10867203 - A INS TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_ins c.421_420 p.S140fs 1.000:1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 155 0 0 55 9 14.0625 ENSG00000257769 0 genome.wustl.edu 37 16 15702439 15702439 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 15702439 15702439 A - DEL ENSG00000257769 ENST00000549756 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-193M12.1 Clone_based_vega_gene ENSG00000257769 17 0 0 12 3 20 ARHGAP17 0 genome.wustl.edu 37 16 24942188 24942188 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 24942188 24942188 G - DEL ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known frame_shift_del c.2432 p.P811fs 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 321 0 0 166 37 18.2266 ZNF48 0 genome.wustl.edu 37 16 30409299 30409299 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 30409299 30409299 G - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.728 p.E245fs 0.150 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 131 0 0 57 11 16.1765 FBRS 0 genome.wustl.edu 37 16 30680911 30680911 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 30680911 30680911 C - DEL FBRS ENST00000356166 human ensembl 74_37 +1 known frame_shift_del c.2888 p.R965fs 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 196 0 0 84 14 14.2857 ZNF668 0 genome.wustl.edu 37 16 31072732 31072732 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 31072732 31072732 C - DEL ZNF668 ENST00000426488 human ensembl 74_37 -1 known frame_shift_del c.1586 p.G529fs 0.175 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 162 0 0 70 20 22.2222 CREBBP 0 genome.wustl.edu 37 16 3824615 3824616 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 3824615 3824616 - G INS CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_ins c.2238_2237 p.M747fs 0.289:1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 147 0 0 62 10 13.8889 CIAPIN1 0 genome.wustl.edu 37 16 57473215 57473217 + In_Frame_Del DEL AAT AAT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 57473215 57473217 AAT - DEL CIAPIN1 ENST00000394391 human ensembl 74_37 -1 known in_frame_del c.189_187 p.I63in_frame_del 0.973:0.980:0.807 NULL pfam_Anamorsin - no_errors CIAPIN1 HGNC ENSG00000005194 429 0 0 144 23 13.7725 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67645338 67645339 - A INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.603_604 p.T203fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 134 0 0 56 10 15.1515 RANBP10 0 genome.wustl.edu 37 16 67762448 67762448 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 67762448 67762448 G - DEL RANBP10 ENST00000411657 human ensembl 74_37 -1 known frame_shift_del c.1058 p.P353fs 0.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 111 0 0 30 5 14.2857 CYB5B 0 genome.wustl.edu 37 16 69493004 69493004 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 69493004 69493004 A - DEL CYB5B ENST00000307892 human ensembl 74_37 +1 known frame_shift_del c.342 p.N116fs 0.076 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Aquaporin-like,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5B HGNC ENSG00000103018 138 0 0 72 4 5.26316 METRN 0 genome.wustl.edu 37 16 767217 767218 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 767217 767218 - C INS METRN ENST00000568223 human ensembl 74_37 +1 known frame_shift_ins c.712_713 p.L240fs 0.990:0.998 NULL NULL - no_errors METRN HGNC ENSG00000103260 25 0 0 10 3 23.0769 MSLN 0 genome.wustl.edu 37 16 814677 814677 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 814677 814677 C - DEL MSLN ENST00000382862 human ensembl 74_37 +1 known frame_shift_del c.331 p.E113fs 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 426 0 0 148 18 10.8434 MTHFSD 0 genome.wustl.edu 37 16 86582174 86582174 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 86582174 86582174 T - DEL MTHFSD ENST00000360900 human ensembl 74_37 -1 known frame_shift_del c.247 p.T83fs 1.000 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 109 0 0 40 9 18.3673 TCF25 0 genome.wustl.edu 37 16 89960161 89960161 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 16 89960161 89960161 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.723 p.G244fs 0.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 78 0 0 15 2 11.7647 SPECC1 0 genome.wustl.edu 37 17 20217329 20217330 + Frame_Shift_Del DEL AG AG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 20217329 20217330 AG - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.3158_3159 p.S1054fs 1.000:1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 82 0 0 21 4 16 EVI2B 0 genome.wustl.edu 37 17 29632035 29632035 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 29632035 29632035 T - DEL EVI2B ENST00000544462 human ensembl 74_37 -1 known frame_shift_del c.638 p.N213fs 0.000 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 237 0 0 101 27 21.0938 TMEM132E 0 genome.wustl.edu 37 17 32957032 32957033 + Frame_Shift_Del DEL AG AG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 32957032 32957033 AG - DEL TMEM132E ENST00000321639 human ensembl 74_37 +1 known frame_shift_del c.1074_1075 p.E359fs 1.000:1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 84 0 0 30 3 9.09091 GAS2L2 0 genome.wustl.edu 37 17 34072083 34072083 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 34072083 34072083 G - DEL GAS2L2 ENST00000254466 human ensembl 74_37 -1 known frame_shift_del c.2433 p.K812fs 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 212 0 0 78 15 16.129 CDK12 0 genome.wustl.edu 37 17 37687472 37687472 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 37687472 37687472 G - DEL CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_del c.4376 p.G1461fs 1.000 NULL 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 CDK12 HGNC ENSG00000167258 196 1 0.507614 53 11 17.1875 KCNH4 0 genome.wustl.edu 37 17 40328258 40328259 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 40328258 40328259 - C INS KCNH4 ENST00000264661 human ensembl 74_37 -1 known frame_shift_ins c.643_642 p.S214fs 1.000:0.999 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 383 0 0 113 20 15.0376 LSM12 0 genome.wustl.edu 37 17 42141192 42141192 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 42141192 42141192 G - DEL LSM12 ENST00000293406 human ensembl 74_37 -1 known frame_shift_del c.235 p.L79fs 1.000 pfam_Anticodon-binding_dom pfam_Anticodon-binding_dom - no_errors LSM12 HGNC ENSG00000161654 94 0 0 32 8 20 HOXB7 0 genome.wustl.edu 37 17 46688090 46688090 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 46688090 46688090 C - DEL HOXB7 ENST00000239165 human ensembl 74_37 -1 known frame_shift_del c.191 p.G64fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 23 0 0 15 8 34.7826 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 153 0 0 62 8 11.4286 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 60 0 0 17 10 37.037 DGKE 0 genome.wustl.edu 37 17 54921519 54921519 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 54921519 54921519 A - DEL DGKE ENST00000284061 human ensembl 74_37 +1 known frame_shift_del c.604 p.T204fs 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 43 0 0 22 7 24.1379 BZRAP1-AS1 0 genome.wustl.edu 37 17 56429378 56429378 + RNA DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 56429378 56429378 C - DEL BZRAP1-AS1 ENST00000578025 human ensembl 74_37 +1 known rna NULL NULL 0.323 - - - no_errors BZRAP1-AS1 HGNC ENSG00000265148 56 0 0 18 4 18.1818 RNF43 0 genome.wustl.edu 37 17 56435590 56435591 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 56435590 56435591 - C INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.1547_1546 p.D516fs 0.040:0.126 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 243 0 0 90 23 20.354 PSMD12 0 genome.wustl.edu 37 17 65353654 65353655 + Frame_Shift_Del DEL AG AG - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 65353654 65353655 AG - DEL PSMD12 ENST00000356126 human ensembl 74_37 -1 known frame_shift_del c.149_148 p.L50fs 0.998:0.904 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 258 0 0 111 17 13.2812 SOX9 0 genome.wustl.edu 37 17 70119910 70119910 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 70119910 70119910 G - DEL SOX9 ENST00000245479 human ensembl 74_37 +1 known frame_shift_del c.912 p.V306fs 0.153 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 102 0 0 27 4 12.9032 DVL2 0 genome.wustl.edu 37 17 7129594 7129594 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7129594 7129594 C - DEL DVL2 ENST00000005340 human ensembl 74_37 -1 known frame_shift_del c.1801 p.A601fs 0.887 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 155 1 0.641026 58 8 12.1212 TMEM104 0 genome.wustl.edu 37 17 72791152 72791152 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 72791152 72791152 G - DEL TMEM104 ENST00000335464 human ensembl 74_37 +1 known frame_shift_del c.429 p.V145fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 128 0 0 51 7 12.069 CASKIN2 0 genome.wustl.edu 37 17 73498973 73498973 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 73498973 73498973 G - DEL CASKIN2 ENST00000321617 human ensembl 74_37 -1 known frame_shift_del c.2182 p.Q728fs 0.992 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 68 0 0 48 10 17.2414 EVPL 0 genome.wustl.edu 37 17 74004912 74004914 + In_Frame_Del DEL CTC CTC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 74004912 74004914 CTC - DEL EVPL ENST00000301607 human ensembl 74_37 -1 known in_frame_del c.4374_4372 p.E1458in_frame_del 1.000:1.000:1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 324 0 0 103 12 10.4348 TP53 0 genome.wustl.edu 37 17 7577036 7577036 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 7577036 7577036 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.902 p.P301fs 0.137 NULL 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 187 0 0 67 7 9.45946 ENTHD2 0 genome.wustl.edu 37 17 79202956 79202956 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 79202956 79202956 T - DEL ENTHD2 ENST00000300714 human ensembl 74_37 -1 known frame_shift_del c.1350 p.G452fs 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 58 0 0 21 3 12.5 CCDC57 0 genome.wustl.edu 37 17 80141780 80141781 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 80141780 80141781 - T INS CCDC57 ENST00000389641 human ensembl 74_37 -1 known frame_shift_ins c.1081_1080 p.S360fs 0.001:0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 70 0 0 14 3 17.6471 ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 196 0 0 64 9 12.3288 SMCHD1 0 genome.wustl.edu 37 18 2706440 2706440 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 2706440 2706440 A - DEL SMCHD1 ENST00000320876 human ensembl 74_37 +1 known frame_shift_del c.2035 p.K680fs 0.880 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 23 0 0 4 3 42.8571 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 194 0 0 64 18 21.9512 MBD3 0 genome.wustl.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 1578372 1578374 CTC - DEL MBD3 ENST00000156825 human ensembl 74_37 -1 known in_frame_del c.843_841 p.E281in_frame_del 0.902:0.992:1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 73 0 0 16 2 11.1111 MYO9B 0 genome.wustl.edu 37 19 17313664 17313666 + In_Frame_Del DEL AGA AGA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 17313664 17313666 AGA - DEL MYO9B ENST00000594824 human ensembl 74_37 +1 known in_frame_del c.4850_4852 p.K1620in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 33 0 0 3 2 40 COMP 0 genome.wustl.edu 37 19 18899035 18899035 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 18899035 18899035 C - DEL COMP ENST00000222271 human ensembl 74_37 -1 known frame_shift_del c.961 p.V321fs 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 54 0 0 19 4 17.3913 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 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 ZNF43 HGNC ENSG00000198521 91 0 0 40 7 14.8936 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 179 0 0 111 15 11.9048 KMT2B 0 genome.wustl.edu 37 19 36211183 36211183 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 36211183 36211183 A - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.934 p.V314fs 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 51 0 0 11 3 21.4286 KMT2B 0 genome.wustl.edu 37 19 36229305 36229305 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 36229305 36229305 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.7995 p.H2665fs 0.832 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 63 0 0 16 7 30.4348 ZNF420 0 genome.wustl.edu 37 19 37618888 37618888 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 37618888 37618888 A - DEL ZNF420 ENST00000337995 human ensembl 74_37 +1 known frame_shift_del c.995 p.K333fs 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 ZNF420 HGNC ENSG00000197050 177 0 0 77 15 16.3043 RTN2 0 genome.wustl.edu 37 19 45996513 45996513 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 45996513 45996513 G - DEL RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_del c.938 p.P313fs 0.005 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 309 1 0.322581 93 16 14.6789 GYS1 0 genome.wustl.edu 37 19 49477974 49477974 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 49477974 49477974 G - DEL GYS1 ENST00000323798 human ensembl 74_37 -1 known frame_shift_del c.1325 p.P442fs 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 162 1 0.613497 36 7 16.2791 ZNF702P 0 genome.wustl.edu 37 19 53473566 53473566 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 53473566 53473566 T - DEL ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors ZNF702P HGNC ENSG00000242779 138 0 0 48 9 15.7895 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 72 0 0 29 6 17.1429 FBN3 0 genome.wustl.edu 37 19 8193949 8193949 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 8193949 8193949 G - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.2259 p.G754fs 0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 161 0 0 43 13 23.2143 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 17 0 0 13 3 18.75 AFF3 0 genome.wustl.edu 37 2 100210562 100210563 + Frame_Shift_Del DEL TC TC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 100210562 100210563 TC - DEL AFF3 ENST00000356421 human ensembl 74_37 -1 known frame_shift_del c.1636_1635 p.K546fs 0.581:0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 306 0 0 107 19 15.0794 TMEM37 0 genome.wustl.edu 37 2 120195033 120195033 + RNA DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 120195033 120195033 C - DEL TMEM37 ENST00000465296 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM37 HGNC ENSG00000171227 234 0 0 99 19 16.1017 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 185 0 0 67 13 16.25 NEB 0 genome.wustl.edu 37 2 152522788 152522788 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 152522788 152522788 T - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.4847 p.K1616fs 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 319 0 0 121 31 20.3947 TTN 0 genome.wustl.edu 37 2 179535859 179535860 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 179535859 179535860 - T INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.31363_31362 p.P10454fs 1.000:0.997 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 24 5 17.2414 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 90 0 0 27 9 25 PLCL1 0 genome.wustl.edu 37 2 198949403 198949404 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 198949403 198949404 - T INS PLCL1 ENST00000428675 human ensembl 74_37 +1 known frame_shift_ins c.1162_1163 p.D390fs 0.985:1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 225 0 0 92 13 12.381 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 131 1 0.757576 65 9 12.1622 NRP2 0 genome.wustl.edu 37 2 206659845 206659845 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 206659845 206659845 T - DEL NRP2 ENST00000467850 human ensembl 74_37 +1 known rna NULL NULL 0.465 - - - no_errors NRP2 HGNC ENSG00000118257 17 0 0 10 4 28.5714 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 207174869 207174869 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5617 p.K1875fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 62 0 0 28 4 12.5 COL6A3 0 genome.wustl.edu 37 2 238277573 238277573 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 238277573 238277573 C - DEL COL6A3 ENST00000295550 human ensembl 74_37 -1 known frame_shift_del c.4533 p.S1512fs 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 126 0 0 68 8 10.5263 CAPN10 0 genome.wustl.edu 37 2 241536127 241536127 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 241536127 241536127 C - DEL CAPN10 ENST00000391984 human ensembl 74_37 +1 known frame_shift_del c.1511 p.A507fs 0.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 109 0 0 38 7 15.5556 GMCL1 0 genome.wustl.edu 37 2 70096843 70096843 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 70096843 70096843 T - DEL GMCL1 ENST00000495047 human ensembl 74_37 +1 putative rna NULL NULL 0.598 - - - no_errors GMCL1 HGNC ENSG00000087338 133 0 0 45 8 15.0943 C2orf42 0 genome.wustl.edu 37 2 70392682 70392682 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 70392682 70392682 T - DEL C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_del c.1230 p.K410fs 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 155 0 0 41 10 19.6078 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 159 0 0 57 14 19.7183 LOXL3 0 genome.wustl.edu 37 2 74763924 74763924 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 74763924 74763924 C - DEL LOXL3 ENST00000264094 human ensembl 74_37 -1 known frame_shift_del c.824 p.G275fs 0.001 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 LOXL3 HGNC ENSG00000115318 217 1 0.458716 88 16 15.3846 GCFC2 0 genome.wustl.edu 37 2 75916297 75916298 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 75916297 75916298 - A INS GCFC2 ENST00000321027 human ensembl 74_37 -1 known frame_shift_ins c.1394_1393 p.C465fs 0.996:0.997 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 196 0 0 77 8 9.41176 PTCD3 0 genome.wustl.edu 37 2 86344184 86344184 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 86344184 86344184 T - DEL PTCD3 ENST00000254630 human ensembl 74_37 +1 known frame_shift_del c.316 p.L107fs 0.992 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 70 0 0 40 7 14.8936 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 110 1 0.900901 41 10 19.6078 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 119 0 0 41 9 18 TOP1 0 genome.wustl.edu 37 20 39721180 39721180 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 39721180 39721180 C - DEL TOP1 ENST00000361337 human ensembl 74_37 +1 known frame_shift_del c.683 p.P229fs 1.000 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 195 0 0 74 12 13.9535 ZNFX1 0 genome.wustl.edu 37 20 47858380 47858380 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 20 47858380 47858380 A - DEL ZNFX1 ENST00000371754 human ensembl 74_37 -1 known frame_shift_del c.3393 p.F1131fs 0.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors ZNFX1 HGNC ENSG00000124201 48 0 0 17 6 26.087 RWDD2B 0 genome.wustl.edu 37 21 30378685 30378685 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 30378685 30378685 A - DEL RWDD2B ENST00000286777 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 20 0 0 24 9 27.2727 PDE9A 0 genome.wustl.edu 37 21 44195538 44195541 + RNA DEL AAAA AAAA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 44195538 44195541 AAAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 15 0 0 9 4 30.7692 TRAPPC10 0 genome.wustl.edu 37 21 45507746 45507747 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 45507746 45507747 - C INS TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known frame_shift_ins c.2706_2707 p.H903fs 0.940:0.165 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 84 0 0 27 6 18.1818 TRAPPC10 0 genome.wustl.edu 37 21 45514004 45514004 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 45514004 45514004 C - DEL TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known frame_shift_del c.3058 p.P1021fs 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 249 0 0 104 22 17.4603 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662902 + RNA DEL AAA AAA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 21 47662900 47662902 AAA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 70 0 0 34 6 15 COMT 0 genome.wustl.edu 37 22 19951647 19951649 + In_Frame_Del DEL CCT CCT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 19951647 19951649 CCT - DEL COMT ENST00000207636 human ensembl 74_37 +1 known in_frame_del c.498_500 p.L168in_frame_del 0.000:0.000:0.000 NULL pfam_O-MeTrfase_3 - no_errors COMT HGNC ENSG00000093010 152 0 0 63 10 13.6986 TFIP11 0 genome.wustl.edu 37 22 26890229 26890231 + In_Frame_Del DEL CTC CTC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 26890229 26890231 CTC - DEL TFIP11 ENST00000405938 human ensembl 74_37 -1 known in_frame_del c.2034_2032 p.E678in_frame_del 1.000:1.000:1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 154 0 0 51 10 16.3934 TPST2 0 genome.wustl.edu 37 22 26932299 26932299 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 26932299 26932299 G - DEL TPST2 ENST00000338754 human ensembl 74_37 -1 known frame_shift_del c.996 p.N333fs 0.999 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 115 0 0 35 4 10.2564 CHEK2 0 genome.wustl.edu 37 22 29091778 29091778 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 29091778 29091778 A - DEL CHEK2 ENST00000382580 human ensembl 74_37 -1 known frame_shift_del c.1308 p.E437fs 0.994 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_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 167 0 0 46 10 17.8571 DDX17 0 genome.wustl.edu 37 22 38895455 38895455 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 38895455 38895455 C - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.488 p.G163fs 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 242 0 0 89 12 11.8812 PNPLA3 0 genome.wustl.edu 37 22 44328951 44328952 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 44328951 44328952 - C INS PNPLA3 ENST00000216180 human ensembl 74_37 +1 known frame_shift_ins c.680_681 p.D230fs 0.158:0.164 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC ENSG00000100344 196 0 0 84 10 10.6383 ALG12 0 genome.wustl.edu 37 22 50297991 50297991 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 22 50297991 50297991 G - DEL ALG12 ENST00000330817 human ensembl 74_37 -1 known frame_shift_del c.1156 p.Q386fs 0.002 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 86 0 0 31 7 18.4211 MAATS1 0 genome.wustl.edu 37 3 119458102 119458104 + In_Frame_Del DEL GAA GAA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 119458102 119458104 GAA - DEL MAATS1 ENST00000273390 human ensembl 74_37 +1 known in_frame_del c.1462_1464 p.E491in_frame_del 1.000:1.000:1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 414 0 0 166 9 5.14286 CCDC37 0 genome.wustl.edu 37 3 126142183 126142183 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 126142183 126142183 C - DEL CCDC37 ENST00000393425 human ensembl 74_37 +1 known frame_shift_del c.1101 p.T370fs 0.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 57 0 0 19 4 17.3913 UROC1 0 genome.wustl.edu 37 3 126229603 126229603 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 126229603 126229603 G - DEL UROC1 ENST00000290868 human ensembl 74_37 -1 known frame_shift_del c.161 p.P54fs 0.334 NULL pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 113 0 0 44 4 8.33333 COLQ 0 genome.wustl.edu 37 3 15516433 15516433 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 15516433 15516433 T - DEL COLQ ENST00000383788 human ensembl 74_37 -1 known frame_shift_del c.554 p.K185fs 1.000 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 349 0 0 129 17 11.6438 ETV5 0 genome.wustl.edu 37 3 185769835 185769835 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 185769835 185769835 T - DEL ETV5 ENST00000537818 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 243 1 0.409836 96 15 13.5135 TFRC 0 genome.wustl.edu 37 3 195796404 195796404 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 195796404 195796404 T - DEL TFRC ENST00000360110 human ensembl 74_37 -1 known frame_shift_del c.723 p.D242fs 0.116 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 62 0 0 23 3 11.5385 SGOL1 0 genome.wustl.edu 37 3 20212755 20212756 + RNA DEL AA AA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 20212755 20212756 AA - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 48 0 0 22 12 35.2941 TRANK1 0 genome.wustl.edu 37 3 36893221 36893222 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 36893221 36893222 - A INS TRANK1 ENST00000429976 human ensembl 74_37 -1 known frame_shift_ins c.4744_4743 p.T1581fs 1.000:0.995 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 59 0 0 30 5 14.2857 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 145 0 0 55 11 16.6667 SCAP 0 genome.wustl.edu 37 3 47462542 47462543 + RNA INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 47462542 47462543 - G INS SCAP ENST00000465628 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SCAP HGNC ENSG00000114650 91 0 0 34 5 12.8205 COL7A1 0 genome.wustl.edu 37 3 48621170 48621170 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 48621170 48621170 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.4322 p.P1441fs 0.295 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 154 0 0 61 14 18.6667 ATXN7 0 genome.wustl.edu 37 3 63981492 63981492 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 63981492 63981492 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.1994 p.M667fs 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 241 0 0 81 18 18.1818 ROBO2 0 genome.wustl.edu 37 3 77657038 77657038 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 77657038 77657038 C - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.3226 p.P1078fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 85 0 0 41 6 12.766 IL17RE 0 genome.wustl.edu 37 3 9950934 9950934 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 3 9950934 9950934 A - DEL IL17RE ENST00000421412 human ensembl 74_37 +1 known frame_shift_del c.868 p.K291fs 0.840 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 76 0 0 29 4 12.1212 ALPK1 0 genome.wustl.edu 37 4 113356416 113356416 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 113356416 113356416 T - DEL ALPK1 ENST00000177648 human ensembl 74_37 +1 known frame_shift_del c.3147 p.W1051fs 0.473 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 455 1 0.219298 171 30 14.9254 FAT4 0 genome.wustl.edu 37 4 126373367 126373367 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 126373367 126373367 T - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.11196 p.L3734fs 0.432 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 295 0 0 128 26 16.8831 PLK4 0 genome.wustl.edu 37 4 128814507 128814507 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 128814507 128814507 A - DEL PLK4 ENST00000270861 human ensembl 74_37 +1 known frame_shift_del c.2256 p.S754fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 122 0 0 73 18 19.7802 INPP4B 0 genome.wustl.edu 37 4 143007332 143007332 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 143007332 143007332 T - DEL INPP4B ENST00000509777 human ensembl 74_37 -1 known frame_shift_del c.2452 p.R818fs 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 110 0 0 28 8 22.2222 SMARCA5 0 genome.wustl.edu 37 4 144442710 144442710 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 144442710 144442710 A - DEL SMARCA5 ENST00000283131 human ensembl 74_37 +1 known frame_shift_del c.381 p.D130fs 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 94 0 0 44 6 12 OTUD4 0 genome.wustl.edu 37 4 146058622 146058624 + In_Frame_Del DEL CTC CTC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 146058622 146058624 CTC - DEL OTUD4 ENST00000447906 human ensembl 74_37 -1 known in_frame_del c.3305_3303 p.R1102in_frame_del 0.973:0.982:0.998 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 403 0 0 158 19 10.7345 EDNRA 0 genome.wustl.edu 37 4 148441069 148441069 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 148441069 148441069 T - DEL EDNRA ENST00000324300 human ensembl 74_37 +1 known frame_shift_del c.487 p.L164fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 329 0 0 137 22 13.8365 PROM1 0 genome.wustl.edu 37 4 15995679 15995680 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 15995679 15995680 - T INS PROM1 ENST00000447510 human ensembl 74_37 -1 known frame_shift_ins c.1698_1697 p.N566fs 0.395:0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 180 1 0.552486 67 15 18.2927 DDX60L 0 genome.wustl.edu 37 4 169317264 169317264 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 169317264 169317264 T - DEL DDX60L ENST00000260184 human ensembl 74_37 -1 known frame_shift_del c.3503 p.N1168fs 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 19 0 0 10 3 23.0769 NEIL3 0 genome.wustl.edu 37 4 178283532 178283532 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 178283532 178283532 T - DEL NEIL3 ENST00000264596 human ensembl 74_37 +1 known frame_shift_del c.1725 p.F577fs 0.884 pfam_Znf_GRF pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 124 0 0 56 8 12.5 ENSG00000248694 0 genome.wustl.edu 37 4 183694819 183694819 + RNA DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 183694819 183694819 T - DEL ENSG00000248694 ENST00000513255 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-18D7.2 Clone_based_vega_gene ENSG00000248694 214 0 0 83 14 14.433 KIAA0232 0 genome.wustl.edu 37 4 6843886 6843887 + Frame_Shift_Ins INS - - A TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 4 6843886 6843887 - A INS KIAA0232 ENST00000307659 human ensembl 74_37 +1 known frame_shift_ins c.324_325 p.Q110fs 1.000:1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 154 0 0 86 15 14.8515 CSNK1G3 0 genome.wustl.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 122881495 122881495 A - DEL CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known frame_shift_del c.138 p.I49fs 0.861 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_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC ENSG00000151292 187 0 0 69 10 12.6582 CDC25C 0 genome.wustl.edu 37 5 137627689 137627690 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 137627689 137627690 - T INS CDC25C ENST00000323760 human ensembl 74_37 -1 known frame_shift_ins c.732_731 p.Y245fs 0.194:0.395 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 196 0 0 81 15 15.625 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 62 0 0 20 6 23.0769 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 131 0 0 68 9 11.6883 BTNL3 0 genome.wustl.edu 37 5 180432664 180432665 + Frame_Shift_Ins INS - - CC TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 180432664 180432665 - CC INS BTNL3 ENST00000342868 human ensembl 74_37 +1 known frame_shift_ins c.1193_1194 p.S401fs 0.003:0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL3 HGNC ENSG00000168903 102 0 0 46 9 16.3636 SPEF2 0 genome.wustl.edu 37 5 35700715 35700715 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 35700715 35700715 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2259 p.A756fs 0.002 superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 110 0 0 42 12 22.2222 WDR70 0 genome.wustl.edu 37 5 37701207 37701208 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 37701207 37701208 - T INS WDR70 ENST00000265107 human ensembl 74_37 +1 known frame_shift_ins c.1240_1241 p.S416fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 166 0 0 100 13 11.5044 FASTKD3 0 genome.wustl.edu 37 5 7867769 7867769 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 7867769 7867769 T - DEL FASTKD3 ENST00000264669 human ensembl 74_37 -1 known frame_shift_del c.428 p.K143fs 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 110 0 0 67 10 12.987 LNPEP 0 genome.wustl.edu 37 5 96315249 96315249 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 5 96315249 96315249 A - DEL LNPEP ENST00000231368 human ensembl 74_37 +1 known frame_shift_del c.427 p.N145fs 0.910 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 181 0 0 78 9 10.3448 SLC16A10 0 genome.wustl.edu 37 6 111409136 111409136 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 111409136 111409136 C - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.181 p.E63fs 0.214 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 36 0 0 12 3 20 MED23 0 genome.wustl.edu 37 6 131948470 131948472 + RNA DEL AAA AAA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 131948470 131948472 AAA - DEL MED23 ENST00000489888 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004:0.006 - - - no_errors MED23 HGNC ENSG00000112282 58 0 0 22 7 24.1379 BCLAF1 0 genome.wustl.edu 37 6 136599252 136599252 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 136599252 136599252 T - DEL BCLAF1 ENST00000531224 human ensembl 74_37 -1 known frame_shift_del c.767 p.N256fs 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 144 0 0 105 7 6.25 CITED2 0 genome.wustl.edu 37 6 139694831 139694831 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 139694831 139694831 G - DEL CITED2 ENST00000367651 human ensembl 74_37 -1 known frame_shift_del c.251 p.P84fs 0.771 pfam_CITED pfam_CITED - no_errors CITED2 HGNC ENSG00000164442 42 0 0 18 4 18.1818 HIVEP2 0 genome.wustl.edu 37 6 143082658 143082659 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 143082658 143082659 - T INS HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_ins c.5563_5562 p.C1854fs 1.000:1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 381 0 0 129 25 16.2338 SYNE1 0 genome.wustl.edu 37 6 152671800 152671800 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 152671800 152671800 T - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.11686 p.I3896fs 0.998 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 214 0 0 124 14 10.1449 ARID1B 0 genome.wustl.edu 37 6 157527817 157527817 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 157527817 157527817 C - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.5662 p.L1890fs 0.002 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 131 0 0 67 14 17.284 TULP4 0 genome.wustl.edu 37 6 158924562 158924563 + Frame_Shift_Ins INS - - C TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 158924562 158924563 - C INS TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_ins c.3867_3868 p.L1290fs 1.000:1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 217 0 0 81 15 15.625 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 139 0 0 57 10 14.9254 BTN2A2 0 genome.wustl.edu 37 6 26390383 26390383 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 26390383 26390383 A - DEL BTN2A2 ENST00000356709 human ensembl 74_37 +1 known frame_shift_del c.875 p.K294fs 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 127 0 0 44 8 15.3846 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 71 0 0 38 7 15.5556 HLA-A 0 genome.wustl.edu 37 6 29911900 29911900 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 29911900 29911900 C - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.621 p.K210fs 0.000 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 520 1 0.191939 218 24 9.91736 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 158 0 0 58 6 9.375 DDX39B 0 genome.wustl.edu 37 6 31504446 31504446 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 31504446 31504446 A - DEL DDX39B ENST00000417556 human ensembl 74_37 -1 known frame_shift_del c.492 p.F164fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 108 0 0 50 12 19.3548 TDRD6 0 genome.wustl.edu 37 6 46660415 46660415 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 46660415 46660415 A - DEL TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_del c.4550 p.M1520fs 0.009 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 104 0 0 76 9 10.5882 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 15 0 0 4 3 42.8571 ZNF292 0 genome.wustl.edu 37 6 87970331 87970331 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 87970331 87970331 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6984 p.M2330fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 73 0 0 41 5 10.8696 PNISR 0 genome.wustl.edu 37 6 99848583 99848584 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 6 99848583 99848584 - T INS PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_ins c.2251_2250 p.H750fs 1.000:1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 219 0 0 130 16 10.9589 NYAP1 0 genome.wustl.edu 37 7 100085884 100085884 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 100085884 100085884 C - DEL NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_del c.540 p.P182fs 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 292 0 0 99 14 12.3894 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 140 0 0 57 13 18.5714 WASL 0 genome.wustl.edu 37 7 123332484 123332485 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 123332484 123332485 - T INS WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_ins c.1264_1263 p.V421fs 1.000:1.000 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 121 0 0 60 13 17.8082 KIAA1549 0 genome.wustl.edu 37 7 138552754 138552754 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 138552754 138552754 G - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.4896 p.G1633fs 0.731 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 97 0 0 22 6 21.4286 ATG9B 0 genome.wustl.edu 37 7 150720307 150720307 + RNA DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 150720307 150720307 G - DEL ATG9B ENST00000473698 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ATG9B HGNC ENSG00000181652 253 0 0 100 16 13.7931 INTS1 0 genome.wustl.edu 37 7 1527075 1527075 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 1527075 1527075 G - DEL INTS1 ENST00000389470 human ensembl 74_37 -1 known frame_shift_del c.2956 p.R986fs 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 65 0 0 10 3 23.0769 TWISTNB 0 genome.wustl.edu 37 7 19738024 19738024 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 19738024 19738024 T - DEL TWISTNB ENST00000222567 human ensembl 74_37 -1 known frame_shift_del c.932 p.K311fs 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 239 0 0 84 20 19.2308 OSBPL3 0 genome.wustl.edu 37 7 24910452 24910453 + Frame_Shift_Del DEL TC TC - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 24910452 24910453 TC - DEL OSBPL3 ENST00000313367 human ensembl 74_37 -1 known frame_shift_del c.280_279 p.K94fs 1.000:0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 115 0 0 39 7 15.2174 SDK1 0 genome.wustl.edu 37 7 4201429 4201429 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 4201429 4201429 C - DEL SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_del c.4741 p.P1582fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 330 0 0 96 12 11.1111 PKD1L1 0 genome.wustl.edu 37 7 47944773 47944773 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 47944773 47944773 T - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.1672 p.R558fs 0.224 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 134 0 0 68 14 17.0732 POM121 0 genome.wustl.edu 37 7 72409181 72409181 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 72409181 72409181 C - DEL POM121 ENST00000434423 human ensembl 74_37 +1 known frame_shift_del c.1328 p.R444fs 1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 456 0 0 132 23 14.8387 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658286 72658286 + RNA DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 72658286 72658286 G - DEL GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 155 0 0 67 11 14.1026 CROT 0 genome.wustl.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 7 86978480 86978480 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.96 p.K34fs 0.795 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 90 0 0 53 11 17.1875 OXR1 0 genome.wustl.edu 37 8 107715191 107715191 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 107715191 107715191 A - DEL OXR1 ENST00000442977 human ensembl 74_37 +1 known frame_shift_del c.736 p.N247fs 1.000 pfam_GRAM pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 75 0 0 39 4 9.30233 KLHL38 0 genome.wustl.edu 37 8 124664881 124664881 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 124664881 124664881 C - DEL KLHL38 ENST00000325995 human ensembl 74_37 -1 known frame_shift_del c.286 p.E96fs 0.397 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 83 0 0 38 8 17.3913 EPPK1 0 genome.wustl.edu 37 8 144940165 144940166 + Frame_Shift_Ins INS - - AG TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 144940165 144940166 - AG INS EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_ins c.7257_7256 p.Q2420fs 0.000:0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 40 0 0 12 4 25 PLEC 0 genome.wustl.edu 37 8 144993009 144993010 + Frame_Shift_Del DEL GA GA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 144993009 144993010 GA - DEL PLEC ENST00000322810 human ensembl 74_37 -1 known frame_shift_del c.11391_11390 p.L3797fs 0.175:0.717 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 112 0 0 54 11 16.9231 MICU3 0 genome.wustl.edu 37 8 16944491 16944491 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 16944491 16944491 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.796 p.N268fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 64 0 0 20 4 16.6667 CCAR2 0 genome.wustl.edu 37 8 22473324 22473324 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 22473324 22473324 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1507 p.L505fs 0.809 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 202 2 0.980392 75 12 13.7931 ANK1 0 genome.wustl.edu 37 8 41522449 41522449 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 41522449 41522449 C - DEL ANK1 ENST00000314214 human ensembl 74_37 -1 known frame_shift_del c.93 p.S32fs 1.000 NULL NULL - no_errors ANK1 HGNC ENSG00000029534 99 0 0 36 3 7.69231 CHD7 0 genome.wustl.edu 37 8 61693840 61693840 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 61693840 61693840 A - DEL CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_del c.1947 p.D652fs 0.976 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 11 0 0 4 2 33.3333 ARFGEF1 0 genome.wustl.edu 37 8 68184034 68184034 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 68184034 68184034 T - DEL ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_del c.1475 p.N492fs 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 101 0 0 40 7 14.8936 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 248 1 0.401606 89 14 13.5922 ZFHX4 0 genome.wustl.edu 37 8 77775599 77775599 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 77775599 77775599 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.9649 p.E3219fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 176 0 0 70 8 10.2564 POP1 0 genome.wustl.edu 37 8 99168468 99168468 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 8 99168468 99168468 A - DEL POP1 ENST00000349693 human ensembl 74_37 +1 known frame_shift_del c.2248 p.T752fs 0.001 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 186 0 0 105 13 11.0169 GALNT12 0 genome.wustl.edu 37 9 101599309 101599309 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 101599309 101599309 T - DEL GALNT12 ENST00000375011 human ensembl 74_37 +1 known frame_shift_del c.1091 p.F365fs 0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 340 0 0 148 12 7.5 INIP 0 genome.wustl.edu 37 9 115456355 115456355 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 115456355 115456355 A - DEL INIP ENST00000476599 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors INIP HGNC ENSG00000148153 48 0 0 21 11 34.375 BRD3 0 genome.wustl.edu 37 9 136918528 136918529 + Frame_Shift_Ins INS - - G TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 136918528 136918529 - G INS BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_ins c.72_71 p.E25fs 0.120:1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 105 0 0 40 5 11.1111 EXD3 0 genome.wustl.edu 37 9 140243958 140243958 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 140243958 140243958 G - DEL EXD3 ENST00000340951 human ensembl 74_37 -1 known frame_shift_del c.1520 p.P507fs 0.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 33 0 0 16 6 27.2727 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 108 1 0.917431 29 9 23.6842 ENSG00000272842 0 genome.wustl.edu 37 9 19371688 19371688 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 19371688 19371688 A - DEL ENSG00000272842 ENST00000609609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-513M16.7 Clone_based_vega_gene ENSG00000272842 19 0 0 17 5 22.7273 VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 154 1 0.645161 62 14 18.4211 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 19 0 0 24 3 11.1111 ASPN 0 genome.wustl.edu 37 9 95236979 95236979 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 9 95236979 95236979 A - DEL ASPN ENST00000375544 human ensembl 74_37 -1 known frame_shift_del c.201 p.P68fs 0.936 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 93 0 0 47 8 14.5455 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 35142 35142 + Frame_Shift_Del DEL A A - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 GL000209.1 35142 35142 A - DEL KIR2DL2 ENST00000344867 human ensembl 74_37 +1 known frame_shift_del c.811 p.N273fs NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 119 0 0 47 9 16.0714 NOX1 0 genome.wustl.edu 37 X 100117698 100117698 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 100117698 100117698 T - DEL NOX1 ENST00000372966 human ensembl 74_37 -1 known frame_shift_del c.449 p.K150fs 0.015 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 593 0 0 279 44 13.6223 MORC4 0 genome.wustl.edu 37 X 106186092 106186093 + Frame_Shift_Del DEL CT CT - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 106186092 106186093 CT - DEL MORC4 ENST00000355610 human ensembl 74_37 -1 known frame_shift_del c.2029_2028 p.G677fs 0.176:0.782 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 274 0 0 104 21 16.8 MSL3 0 genome.wustl.edu 37 X 11790307 11790307 + Frame_Shift_Del DEL C C - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 11790307 11790307 C - DEL MSL3 ENST00000312196 human ensembl 74_37 +1 known frame_shift_del c.1314 p.P440fs 0.970 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 415 0 0 161 21 11.5385 ZNF280C 0 genome.wustl.edu 37 X 129370542 129370543 + Frame_Shift_Ins INS - - T TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 129370542 129370543 - T INS ZNF280C ENST00000370978 human ensembl 74_37 -1 known frame_shift_ins c.565_564 p.P188fs 0.805:0.653 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 178 0 0 71 17 19.3182 MAP7D3 0 genome.wustl.edu 37 X 135314030 135314030 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 135314030 135314030 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.1032 p.E345fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 226 0 0 90 21 18.9189 CXorf66 0 genome.wustl.edu 37 X 139038625 139038625 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 139038625 139038625 T - DEL CXorf66 ENST00000370540 human ensembl 74_37 -1 known frame_shift_del c.516 p.K172fs 0.000 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 612 0 0 249 54 17.8218 DUSP9 0 genome.wustl.edu 37 X 152915674 152915674 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 152915674 152915674 G - DEL DUSP9 ENST00000342782 human ensembl 74_37 +1 known frame_shift_del c.1069 p.Q359fs 0.150 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 238 0 0 105 24 18.6047 PLXNA3 0 genome.wustl.edu 37 X 153688565 153688565 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 153688565 153688565 G - DEL PLXNA3 ENST00000369682 human ensembl 74_37 +1 known frame_shift_del c.42 p.A17fs 0.006 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 162 1 0.613497 66 10 13.1579 CASK 0 genome.wustl.edu 37 X 41420817 41420817 + Frame_Shift_Del DEL T T - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 41420817 41420817 T - DEL CASK ENST00000378163 human ensembl 74_37 -1 known frame_shift_del c.1663 p.M555fs 1.000 pfam_PDZ,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 62 0 0 20 9 31.0345 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-BR-8081-01A-11D-2340-08 TCGA-BR-8081-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 837ee400-9797-4e3f-a7f7-146ad1bde639 71909f3a-4187-4dca-8a94-f4fe08189521 X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 136 0 0 54 11 16.9231