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 AGL 0 genome.wustl.edu 37 1 100345508 100345508 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 100345508 100345508 A G SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.1641 p.Q547 0.992 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 92 0 0 65 10 13.3333 CELSR2 0 genome.wustl.edu 37 1 109801344 109801344 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 109801344 109801344 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3601 p.P1201S 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR2 HGNC ENSG00000143126 11 0 0 7 3 30 SYPL2 0 genome.wustl.edu 37 1 110018133 110018133 + RNA SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 110018133 110018133 G C SNP SYPL2 ENST00000475497 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SYPL2 HGNC ENSG00000143028 54 0 0 21 6 22.2222 ATXN7L2 0 genome.wustl.edu 37 1 110029157 110029157 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 110029157 110029157 C G SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.223 p.H75D 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 58 0 0 29 5 14.7059 GPR61 0 genome.wustl.edu 37 1 110086455 110086455 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 110086455 110086455 G C SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known missense c.811 p.A271P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 113 0 0 52 7 11.8644 EXOSC10 0 genome.wustl.edu 37 1 11140856 11140856 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 11140856 11140856 C A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1551 p.R517S 1.000 pfam_HRDC_dom,superfamily_HRDC-like,smart_HRDC_dom,pfscan_HRDC_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 193 0 0 81 5 5.81395 RSBN1 0 genome.wustl.edu 37 1 114309746 114309746 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 114309746 114309746 T A SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.1910 p.D637V 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 49 0 0 17 4 19.0476 RSBN1 0 genome.wustl.edu 37 1 114309747 114309747 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 114309747 114309747 C T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.1909 p.D637N 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 49 0 0 17 4 19.0476 NHLH2 0 genome.wustl.edu 37 1 116380625 116380625 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 116380625 116380625 G T SNP NHLH2 ENST00000320238 human ensembl 74_37 -1 known silent c.369 p.I123 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH2 HGNC ENSG00000177551 51 0 0 13 3 18.75 PHGDH 0 genome.wustl.edu 37 1 120278064 120278064 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 120278064 120278064 G T SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known nonsense c.790 p.E264* 0.960 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 69 0 0 16 7 30.4348 CPSF3L 0 genome.wustl.edu 37 1 1254740 1254740 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 1254740 1254740 G C SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.383 p.T128S 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 361 0 0 119 22 15.6028 TAS1R3 0 genome.wustl.edu 37 1 1268097 1268097 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 1268097 1268097 G A SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.1186 p.A396T 0.995 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 40 0 0 23 5 17.8571 CCNL2 0 genome.wustl.edu 37 1 1322784 1322784 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 1322784 1322784 G A SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.1390 p.R464W 1.000 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 141 0 0 52 10 16.129 CCNL2 0 genome.wustl.edu 37 1 1334002 1334002 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 1334002 1334002 T A SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.338 p.K113M 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 163 0 0 51 3 5.55556 VPS45 0 genome.wustl.edu 37 1 150040745 150040745 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 150040745 150040745 T G SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.152 p.L51R 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 107 0 0 75 13 14.7727 ANP32E 0 genome.wustl.edu 37 1 150201521 150201521 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 150201521 150201521 G A SNP ANP32E ENST00000314136 human ensembl 74_37 -1 known missense c.377 p.T126I 1.000 pfam_Leu-rich_rpt pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 66 0 0 31 21 40.3846 APH1A 0 genome.wustl.edu 37 1 150240152 150240152 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 150240152 150240152 C T SNP APH1A ENST00000369109 human ensembl 74_37 -1 known missense c.322 p.G108R 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ENSG00000117362 32 0 0 21 5 19.2308 SEMA6C 0 genome.wustl.edu 37 1 151115071 151115071 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 151115071 151115071 G C SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known silent c.27 p.P9 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 45 0 0 11 3 21.4286 SCNM1 0 genome.wustl.edu 37 1 151138669 151138669 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 151138669 151138669 A T SNP SCNM1 ENST00000368905 human ensembl 74_37 +1 known missense c.41 p.N14I 1.000 NULL NULL - no_errors SCNM1 HGNC ENSG00000163156 17 0 0 13 4 23.5294 MRPL9 0 genome.wustl.edu 37 1 151732634 151732634 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 151732634 151732634 T A SNP MRPL9 ENST00000368830 human ensembl 74_37 -1 known missense c.696 p.R232S 1.000 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 93 0 0 51 9 15 HRNR 0 genome.wustl.edu 37 1 152192965 152192965 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 152192965 152192965 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.1140 p.T380 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 193 0 0 128 17 11.7241 FLG 0 genome.wustl.edu 37 1 152284910 152284910 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 152284910 152284910 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2452 p.Q818E 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 509 0 0 324 56 14.7368 FLG2 0 genome.wustl.edu 37 1 152327308 152327308 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 152327308 152327308 G C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2954 p.S985C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 608 0 0 433 62 12.5253 LCE1A 0 genome.wustl.edu 37 1 152800124 152800124 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 152800124 152800124 G T SNP LCE1A ENST00000335123 human ensembl 74_37 +1 known missense c.176 p.G59V 1.000 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 163 0 0 71 5 6.57895 SLC27A3 0 genome.wustl.edu 37 1 153749026 153749026 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 153749026 153749026 G T SNP SLC27A3 ENST00000368661 human ensembl 74_37 +1 known missense c.841 p.A281S 0.984 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 209 1 0.47619 101 18 15.1261 HCN3 0 genome.wustl.edu 37 1 155252420 155252420 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 155252420 155252420 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.497 p.T166M 0.926 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 104 0 0 55 14 20.2899 PKLR 0 genome.wustl.edu 37 1 155264033 155264033 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 155264033 155264033 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.1109 p.A370V 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 102 0 0 37 3 7.5 KIRREL 0 genome.wustl.edu 37 1 158059568 158059568 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 158059568 158059568 T C SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1280 p.V427A 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 134 0 0 45 8 15.0943 CD1A 0 genome.wustl.edu 37 1 158226016 158226016 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 158226016 158226016 G A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.548 p.C183Y 0.847 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 161 0 0 73 14 16.092 OR10T2 0 genome.wustl.edu 37 1 158368498 158368498 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 158368498 158368498 G A SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.759 p.G253 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 74 0 0 43 11 20.3704 VANGL2 0 genome.wustl.edu 37 1 160389262 160389262 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 160389262 160389262 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.663 p.S221 0.257 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 137 0 0 61 5 7.57576 FCRLA 0 genome.wustl.edu 37 1 161682971 161682971 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 161682971 161682971 C A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.950 p.P317H 0.295 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 161 1 0.617284 98 16 14.0351 ATF6 0 genome.wustl.edu 37 1 161789511 161789511 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 161789511 161789511 G T SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known missense c.998 p.G333V 0.316 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 69 0 0 46 8 14.8148 NOS1AP 0 genome.wustl.edu 37 1 162124213 162124213 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 162124213 162124213 G A SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known missense c.124 p.V42M 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 49 0 0 39 3 7.14286 UAP1 0 genome.wustl.edu 37 1 162569119 162569119 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 162569119 162569119 A G SNP UAP1 ENST00000271469 human ensembl 74_37 +1 known missense c.1535 p.N512S 0.998 NULL pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 65 0 0 20 3 13.0435 SPEN 0 genome.wustl.edu 37 1 16257086 16257086 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 16257086 16257086 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.4351 p.A1451T 1.000 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 181 0 0 86 7 7.52688 FAM78B 0 genome.wustl.edu 37 1 166039482 166039482 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 166039482 166039482 T G SNP FAM78B ENST00000338353 human ensembl 74_37 -1 known missense c.782 p.K261T 1.000 NULL NULL - no_errors FAM78B HGNC ENSG00000188859 209 0 0 79 10 11.236 F5 0 genome.wustl.edu 37 1 169500218 169500218 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 169500218 169500218 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.5014 p.A1672T 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 165 0 0 96 8 7.69231 TPR 0 genome.wustl.edu 37 1 186300651 186300651 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 186300651 186300651 A G SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.5667 p.D1889 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 116 0 0 45 7 13.4615 TROVE2 0 genome.wustl.edu 37 1 193045117 193045117 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 193045117 193045117 G T SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known nonsense c.748 p.E250* 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 123 0 0 39 9 18.75 UBR4 0 genome.wustl.edu 37 1 19439224 19439224 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 19439224 19439224 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.11595 p.G3865 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 436 1 0.228833 155 30 16.2162 CRB1 0 genome.wustl.edu 37 1 197404057 197404057 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 197404057 197404057 A C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.3064 p.S1022R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 141 0 0 47 14 22.9508 KIF21B 0 genome.wustl.edu 37 1 200978019 200978019 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 200978019 200978019 C G SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.325 p.E109Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_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 224 0 0 77 14 15.3846 PLA2G2E 0 genome.wustl.edu 37 1 20249189 20249189 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 20249189 20249189 T G SNP PLA2G2E ENST00000375116 human ensembl 74_37 -1 known missense c.100 p.K34Q 0.707 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2E HGNC ENSG00000188784 156 0 0 65 10 13.3333 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 307 1 0.324675 87 31 26.2712 KLHDC8A 0 genome.wustl.edu 37 1 205312566 205312566 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 205312566 205312566 G T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.167 p.A56D 0.987 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 109 0 0 63 9 12.5 SLC26A9 0 genome.wustl.edu 37 1 205892549 205892549 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 205892549 205892549 C T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.1573 p.D525N 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 138 0 0 72 9 11.1111 C1orf186 0 genome.wustl.edu 37 1 206241563 206241563 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 206241563 206241563 C G SNP C1orf186 ENST00000331555 human ensembl 74_37 -1 novel missense c.226 p.D76H 0.000 NULL NULL - no_errors C1orf186 HGNC ENSG00000196533 204 0 0 64 34 34.6939 CTSE 0 genome.wustl.edu 37 1 206327452 206327452 + RNA SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 206327452 206327452 G C SNP CTSE ENST00000486757 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CTSE HGNC ENSG00000196188 265 0 0 86 53 38.1295 C1orf116 0 genome.wustl.edu 37 1 207198323 207198323 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 207198323 207198323 C A SNP C1orf116 ENST00000359470 human ensembl 74_37 -1 known missense c.192 p.E64D 0.974 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 113 0 0 32 16 33.3333 SERTAD4 0 genome.wustl.edu 37 1 210415046 210415046 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 210415046 210415046 G A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known missense c.435 p.M145I 1.000 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 200 0 0 104 11 9.56522 RD3 0 genome.wustl.edu 37 1 211654657 211654657 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 211654657 211654657 G A SNP RD3 ENST00000367002 human ensembl 74_37 -1 known missense c.101 p.T34M 0.995 NULL NULL - no_errors RD3 HGNC ENSG00000198570 136 0 0 73 12 14.1176 SLC30A1 0 genome.wustl.edu 37 1 211749121 211749121 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 211749121 211749121 G A SNP SLC30A1 ENST00000367001 human ensembl 74_37 -1 known missense c.1133 p.A378V 1.000 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 125 0 0 89 9 9.18367 PTPN14 0 genome.wustl.edu 37 1 214588019 214588019 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 214588019 214588019 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.395 p.R132Q 0.983 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 353 0 0 145 37 20.3297 CENPF 0 genome.wustl.edu 37 1 214818924 214818924 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 214818924 214818924 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6011 p.V2004A 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 143 0 0 74 8 9.7561 KCTD3 0 genome.wustl.edu 37 1 215793628 215793628 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 215793628 215793628 A G SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.2116 p.I706V 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 150 0 0 58 7 10.7692 KCTD3 0 genome.wustl.edu 37 1 215793684 215793684 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 215793684 215793684 T A SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.2172 p.S724R 0.005 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 143 0 0 62 12 16.2162 USH2A 0 genome.wustl.edu 37 1 215901410 215901410 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 215901410 215901410 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.12028 p.T4010A 0.018 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 276 0 0 98 24 19.6721 USH2A 0 genome.wustl.edu 37 1 216246578 216246578 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 216246578 216246578 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.5637 p.V1879 1.000 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Laminin_G 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 73 0 0 25 7 21.875 NBPF3 0 genome.wustl.edu 37 1 21800060 21800060 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 21800060 21800060 G A SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.922 p.A308T 0.000 NULL pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 340 0 0 156 33 17.4603 SPATA17 0 genome.wustl.edu 37 1 218036114 218036114 + Splice_Site SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 218036114 218036114 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known splice_site c.1006-2 e10-2 1.000 - - - no_errors SPATA17 HGNC ENSG00000162814 205 0 0 101 33 24.6269 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 318 1 0.31348 100 36 26.4706 HSPG2 0 genome.wustl.edu 37 1 22216485 22216485 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 22216485 22216485 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.563 p.R188H 1.000 smart_SEA_dom,pfscan_SEA_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 135 0 0 48 8 14.2857 TAF1A 0 genome.wustl.edu 37 1 222736624 222736624 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 222736624 222736624 G A SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known missense c.976 p.R326C 0.998 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 55 0 0 27 8 22.8571 DISP1 0 genome.wustl.edu 37 1 223177310 223177310 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 223177310 223177310 A G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.2571 p.K857 0.996 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 127 0 0 49 10 16.9492 GJC2 0 genome.wustl.edu 37 1 228346215 228346215 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 228346215 228346215 C T SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known silent c.756 p.H252 0.598 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 194 0 0 59 6 9.23077 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 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_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 48 0 0 9 13 59.0909 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 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_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 199 0 0 31 23 42.5926 OBSCN 0 genome.wustl.edu 37 1 228464274 228464274 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 228464274 228464274 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.6344 p.R2115Q 0.895 smart_Ig_sub 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 46 0 0 18 6 25 HIST3H2BB 0 genome.wustl.edu 37 1 228646133 228646133 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 228646133 228646133 G A SNP HIST3H2BB ENST00000369160 human ensembl 74_37 +1 known silent c.303 p.L101 1.000 pfam_Histone_core_D,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 142 0 0 81 11 11.9565 NUP133 0 genome.wustl.edu 37 1 229580678 229580678 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 229580678 229580678 T C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.3317 p.Q1106R 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 163 0 0 69 13 15.8537 NUP133 0 genome.wustl.edu 37 1 229593999 229593999 + Nonsense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 229593999 229593999 G C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known nonsense c.2889 p.Y963* 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 124 0 0 45 17 27.4194 RYR2 0 genome.wustl.edu 37 1 237777417 237777417 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 237777417 237777417 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.4983 p.A1661 0.010 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 72 0 0 47 11 18.9655 RYR2 0 genome.wustl.edu 37 1 237872259 237872259 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 237872259 237872259 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9997 p.S3333P 0.192 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 42 0 0 42 5 10.6383 EXO1 0 genome.wustl.edu 37 1 242015657 242015657 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 242015657 242015657 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known silent c.225 p.L75 0.948 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2 pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 175 0 0 149 24 13.8728 SDCCAG8 0 genome.wustl.edu 37 1 243493858 243493858 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 243493858 243493858 A C SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known missense c.1085 p.D362A 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 108 0 0 61 7 10.2941 KIF26B 0 genome.wustl.edu 37 1 245852058 245852058 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 245852058 245852058 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.5773 p.V1925M 0.186 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 60 0 0 26 5 16.129 CNST 0 genome.wustl.edu 37 1 246810592 246810592 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 246810592 246810592 G A SNP CNST ENST00000366513 human ensembl 74_37 +1 known silent c.1089 p.L363 0.008 NULL NULL - no_errors CNST HGNC ENSG00000162852 187 0 0 134 15 10.0671 OR14K1 0 genome.wustl.edu 37 1 247902152 247902152 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 247902152 247902152 C G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.236 p.S79C 0.073 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 146 0 0 85 10 10.5263 OR11L1 0 genome.wustl.edu 37 1 248004662 248004662 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 248004662 248004662 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known silent c.537 p.C179 1.000 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 172 0 0 117 17 12.6866 OR2T33 0 genome.wustl.edu 37 1 248436456 248436456 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 248436456 248436456 C A SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.661 p.A221S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 53 0 0 75 10 11.7647 OR2T2 0 genome.wustl.edu 37 1 248617019 248617019 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 248617019 248617019 G T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.921 p.G307 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 75 0 0 32 16 33.3333 PAQR7 0 genome.wustl.edu 37 1 26189365 26189365 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 26189365 26189365 C T SNP PAQR7 ENST00000374296 human ensembl 74_37 -1 known silent c.966 p.T322 0.007 NULL pfam_HlyIII-related - no_errors PAQR7 HGNC ENSG00000182749 172 0 0 48 7 12.7273 ARID1A 0 genome.wustl.edu 37 1 27099914 27099914 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 27099914 27099914 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3793 p.G1265S 1.000 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 ARID1A HGNC ENSG00000117713 74 0 0 41 7 14.5833 ZDHHC18 0 genome.wustl.edu 37 1 27180234 27180234 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 27180234 27180234 G T SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known missense c.1067 p.G356V 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 355 0 0 182 15 7.61421 SYTL1 0 genome.wustl.edu 37 1 27679867 27679867 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 27679867 27679867 C T SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known silent c.1437 p.Y479 0.932 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 40 0 0 12 4 25 DNAJC8 0 genome.wustl.edu 37 1 28537141 28537141 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 28537141 28537141 A G SNP DNAJC8 ENST00000263697 human ensembl 74_37 -1 known missense c.245 p.I82T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC8 HGNC ENSG00000126698 143 0 0 77 16 17.2043 HDAC1 0 genome.wustl.edu 37 1 32792620 32792620 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 32792620 32792620 G A SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known missense c.436 p.E146K 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 163 0 0 57 11 16.1765 CSMD2 0 genome.wustl.edu 37 1 34383709 34383709 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 34383709 34383709 T G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.906 p.E302D 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 CSMD2 HGNC ENSG00000121904 67 0 0 26 3 10.3448 GJB3 0 genome.wustl.edu 37 1 35250931 35250931 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 35250931 35250931 T A SNP GJB3 ENST00000373362 human ensembl 74_37 +1 known missense c.568 p.F190I 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 145 0 0 72 10 12.1951 AGO4 0 genome.wustl.edu 37 1 36306953 36306953 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 36306953 36306953 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known nonsense c.1912 p.Q638* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 92 0 0 40 12 23.0769 ADPRHL2 0 genome.wustl.edu 37 1 36558733 36558733 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 36558733 36558733 G A SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.838 p.A280T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 111 0 0 51 15 22.7273 EPHA10 0 genome.wustl.edu 37 1 38187344 38187344 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 38187344 38187344 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2134 p.V712I 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 52 0 0 26 4 13.3333 SCMH1 0 genome.wustl.edu 37 1 41608726 41608726 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 41608726 41608726 G T SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.206 p.P69H 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 193 0 0 81 13 13.8298 FOXJ3 0 genome.wustl.edu 37 1 42657010 42657010 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 42657010 42657010 C A SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.1315 p.A439S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 139 0 0 53 9 14.5161 CLDN19 0 genome.wustl.edu 37 1 43204117 43204117 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 43204117 43204117 G A SNP CLDN19 ENST00000296387 human ensembl 74_37 -1 known silent c.363 p.A121 0.504 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 84 0 0 32 4 11.1111 TIE1 0 genome.wustl.edu 37 1 43775113 43775113 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 43775113 43775113 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1243 p.R415C 0.011 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 93 0 0 41 7 14.5833 TESK2 0 genome.wustl.edu 37 1 45810622 45810622 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 45810622 45810622 C T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1606 p.A536T 0.000 NULL 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 TESK2 HGNC ENSG00000070759 175 0 0 58 11 15.942 CYP4B1 0 genome.wustl.edu 37 1 47279221 47279221 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 47279221 47279221 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.563 p.A188V 0.983 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II 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 CYP4B1 HGNC ENSG00000142973 115 0 0 35 6 14.6341 CYP4A22 0 genome.wustl.edu 37 1 47607809 47607809 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 47607809 47607809 A C SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known missense c.412 p.T138P 0.867 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 114 0 0 47 12 20.339 CDCP2 0 genome.wustl.edu 37 1 54607090 54607090 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 54607090 54607090 G C SNP CDCP2 ENST00000371330 human ensembl 74_37 -1 novel silent c.444 p.V148 0.997 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors CDCP2 HGNC ENSG00000157211 63 0 0 20 7 25.9259 FOXD3 0 genome.wustl.edu 37 1 63789265 63789265 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 63789265 63789265 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known missense c.536 p.R179K 1.000 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 240 0 0 88 14 13.7255 SGIP1 0 genome.wustl.edu 37 1 67154912 67154912 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 67154912 67154912 C A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1490 p.P497Q 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 502 0 0 206 30 12.7119 DIRAS3 0 genome.wustl.edu 37 1 68512338 68512338 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 68512338 68512338 T C SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known missense c.643 p.M215V 0.000 superfamily_P-loop_NTPase 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 211 0 0 74 20 21.2766 CCDC18 0 genome.wustl.edu 37 1 93682304 93682304 + Splice_Site SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 93682304 93682304 G T SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known splice_site c.2184+1 e13+1 1.000 - - - no_errors CCDC18 HGNC ENSG00000122483 39 0 0 43 9 17.3077 DNMBP 0 genome.wustl.edu 37 10 101656136 101656136 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 101656136 101656136 C T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3011 p.G1004D 0.995 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 156 0 0 74 16 17.7778 LZTS2 0 genome.wustl.edu 37 10 102763727 102763727 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 102763727 102763727 G T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.872 p.G291V 0.948 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 108 0 0 34 9 20.9302 GBF1 0 genome.wustl.edu 37 10 104139103 104139103 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 104139103 104139103 G T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4554 p.E1518D 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 137 0 0 55 5 8.33333 VWA2 0 genome.wustl.edu 37 10 116048905 116048905 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 116048905 116048905 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.1779 p.A593 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 47 0 0 24 7 22.5806 UPF2 0 genome.wustl.edu 37 10 12001356 12001356 + Splice_Site SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 12001356 12001356 C T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known splice_site c.2185-1 e11-1 1.000 - - - no_errors UPF2 HGNC ENSG00000151461 71 0 0 60 5 7.69231 EIF3A 0 genome.wustl.edu 37 10 120810115 120810115 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 120810115 120810115 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.2391 p.Q797 0.925 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 389 0 0 192 37 16.1572 DMBT1 0 genome.wustl.edu 37 10 124396684 124396684 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 124396684 124396684 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.6411 p.S2137 0.372 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 138 0 0 47 7 12.963 GPR26 0 genome.wustl.edu 37 10 125426517 125426517 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 125426517 125426517 G T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known silent c.594 p.V198 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 32 0 0 15 5 25 C10orf90 0 genome.wustl.edu 37 10 128192844 128192844 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 128192844 128192844 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known silent c.1216 p.L406 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 156 0 0 76 20 20.8333 GLRX3 0 genome.wustl.edu 37 10 131958297 131958297 + Nonsense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 131958297 131958297 T A SNP GLRX3 ENST00000331244 human ensembl 74_37 +1 known nonsense c.240 p.Y80* 1.000 pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 169 0 0 56 17 23.2877 LRRC27 0 genome.wustl.edu 37 10 134188716 134188716 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 134188716 134188716 A G SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known silent c.1563 p.G521 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 99 0 0 33 9 21.4286 PWWP2B 0 genome.wustl.edu 37 10 134219345 134219345 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 134219345 134219345 G A SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known silent c.1341 p.S447 0.114 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 61 0 0 30 8 21.0526 PWWP2B 0 genome.wustl.edu 37 10 134219558 134219558 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 134219558 134219558 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known silent c.1554 p.D518 0.997 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 149 1 0.666667 70 7 9.09091 DCLRE1C 0 genome.wustl.edu 37 10 14951067 14951067 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 14951067 14951067 C T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known silent c.1419 p.L473 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 67 0 0 60 6 9.09091 ST8SIA6 0 genome.wustl.edu 37 10 17363149 17363149 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 17363149 17363149 G A SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.925 p.L309F 0.003 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 386 0 0 212 49 18.7739 MLLT10 0 genome.wustl.edu 37 10 21959610 21959610 + Nonsense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 21959610 21959610 C G SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known nonsense c.1028 p.S343* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 125 0 0 50 13 20.6349 MYO3A 0 genome.wustl.edu 37 10 26385597 26385597 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 26385597 26385597 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.1762 p.G588S 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 137 0 0 59 10 14.4928 APBB1IP 0 genome.wustl.edu 37 10 26785260 26785260 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 26785260 26785260 C G SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.100 p.P34A 0.990 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 121 0 0 62 4 6.06061 NPY4R 0 genome.wustl.edu 37 10 47087134 47087134 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 47087134 47087134 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known silent c.351 p.S117 0.044 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 305 0 0 157 16 9.24855 FRMPD2 0 genome.wustl.edu 37 10 49447648 49447648 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 49447648 49447648 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.788 p.R263H 0.985 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 36 0 0 25 5 16.6667 MAPK8 0 genome.wustl.edu 37 10 49609720 49609720 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 49609720 49609720 G A SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known missense c.17 p.R6H 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,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 69 0 0 38 6 13.6364 CHAT 0 genome.wustl.edu 37 10 50872965 50872965 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 50872965 50872965 T G SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.2120 p.F707C 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 304 0 0 156 13 7.69231 CHAT 0 genome.wustl.edu 37 10 50872972 50872972 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 50872972 50872972 A G SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.2127 p.K709 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 284 0 0 143 12 7.74194 FAM21A 0 genome.wustl.edu 37 10 51892678 51892678 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 51892678 51892678 T A SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.3999 p.D1333E 0.996 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 96 0 0 61 13 17.5676 PCDH15 0 genome.wustl.edu 37 10 55566740 55566740 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 55566740 55566740 T C SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4645 p.N1549D 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 106 0 0 64 15 18.9873 ZWINT 0 genome.wustl.edu 37 10 58118615 58118615 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 58118615 58118615 G A SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.574 p.L192F 0.993 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 211 0 0 81 13 13.8298 FAM13C 0 genome.wustl.edu 37 10 61043178 61043178 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 61043178 61043178 C A SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.537 p.K179N 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 249 0 0 111 22 16.5414 HKDC1 0 genome.wustl.edu 37 10 71008477 71008477 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 71008477 71008477 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known silent c.1563 p.D521 0.999 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 45 0 0 18 3 14.2857 HKDC1 0 genome.wustl.edu 37 10 71010409 71010409 + Splice_Site SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 71010409 71010409 G T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known splice_site c.1836+1 e12+1 1.000 - - - no_errors HKDC1 HGNC ENSG00000156510 162 0 0 103 16 13.4454 TYSND1 0 genome.wustl.edu 37 10 71899686 71899686 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 71899686 71899686 C T SNP TYSND1 ENST00000287078 human ensembl 74_37 -1 known silent c.1695 p.K565 1.000 pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 88 0 0 55 7 11.2903 C10orf11 0 genome.wustl.edu 37 10 78084190 78084190 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 78084190 78084190 A G SNP C10orf11 ENST00000372499 human ensembl 74_37 +1 known missense c.464 p.E155G 0.870 NULL NULL - no_errors C10orf11 HGNC ENSG00000148655 188 0 0 93 5 5.10204 GRID1 0 genome.wustl.edu 37 10 87966267 87966267 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 87966267 87966267 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.374 p.R125H 0.936 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 117 0 0 42 11 20.7547 ATAD1 0 genome.wustl.edu 37 10 89536099 89536099 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 89536099 89536099 C A SNP ATAD1 ENST00000308448 human ensembl 74_37 -1 known missense c.669 p.L223F 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 237 0 0 97 6 5.82524 IDE 0 genome.wustl.edu 37 10 94294388 94294388 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 94294388 94294388 A G SNP IDE ENST00000265986 human ensembl 74_37 -1 known silent c.438 p.H146 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 160 0 0 68 18 20.9302 PDE6C 0 genome.wustl.edu 37 10 95381725 95381725 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 95381725 95381725 C G SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known missense c.760 p.L254V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 113 0 0 57 7 10.9375 DYNC2H1 0 genome.wustl.edu 37 11 103075616 103075616 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 103075616 103075616 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8377 p.C2793R 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 18 0 0 3 3 50 BACE1 0 genome.wustl.edu 37 11 117161685 117161685 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 117161685 117161685 G A SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known silent c.1023 p.F341 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 239 0 0 99 12 10.8108 UBE4A 0 genome.wustl.edu 37 11 118253471 118253471 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 118253471 118253471 T C SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.2198 p.F733S 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 186 0 0 73 25 25.5102 DPAGT1 0 genome.wustl.edu 37 11 118968584 118968584 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 118968584 118968584 G A SNP DPAGT1 ENST00000354202 human ensembl 74_37 -1 known missense c.898 p.P300S 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 191 0 0 82 9 9.89011 RNF26 0 genome.wustl.edu 37 11 119206040 119206040 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 119206040 119206040 G A SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.208 p.E70K 0.984 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 252 0 0 140 10 6.66667 OR8B4 0 genome.wustl.edu 37 11 124294407 124294407 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 124294407 124294407 G A SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.361 p.R121C 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 145 0 0 58 11 15.942 VSIG2 0 genome.wustl.edu 37 11 124619648 124619648 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 124619648 124619648 C T SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known missense c.542 p.R181H 0.004 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 163 0 0 53 11 17.1875 MUC5B 0 genome.wustl.edu 37 11 1266855 1266855 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 1266855 1266855 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.8754 p.L2918 0.000 NULL 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 28 0 0 17 4 19.0476 MUC5B 0 genome.wustl.edu 37 11 1271077 1271077 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 1271077 1271077 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12976 p.V4326I 0.001 NULL 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 347 0 0 160 11 6.43275 MUC5B 0 genome.wustl.edu 37 11 1275541 1275541 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 1275541 1275541 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.15446 p.V5149A 0.945 pfam_VWF_type-D,smart_VWF_type-D 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 74 0 0 21 9 30 ABCC8 0 genome.wustl.edu 37 11 17434263 17434263 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 17434263 17434263 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known nonsense c.2509 p.R837* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 40 0 0 12 3 20 USH1C 0 genome.wustl.edu 37 11 17531359 17531359 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 17531359 17531359 C T SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1557 p.P519 0.484 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 94 0 0 32 9 21.9512 USH1C 0 genome.wustl.edu 37 11 17542436 17542436 + Silent SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 17542436 17542436 T G SNP USH1C ENST00000005226 human ensembl 74_37 -1 known silent c.1191 p.V397 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 601 1 0.166113 252 60 19.2308 HPS5 0 genome.wustl.edu 37 11 18320518 18320518 + Splice_Site SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 18320518 18320518 C A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known splice_site c.986-1 e9-1 1.000 - - - no_errors HPS5 HGNC ENSG00000110756 147 1 0.675676 64 10 13.5135 SLC17A6 0 genome.wustl.edu 37 11 22363169 22363169 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 22363169 22363169 A G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.182 p.D61G 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 94 0 0 31 4 11.4286 KIF18A 0 genome.wustl.edu 37 11 28090826 28090826 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 28090826 28090826 G C SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1570 p.Q524E 0.725 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 90 0 0 42 10 19.2308 ATHL1 0 genome.wustl.edu 37 11 292553 292553 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 292553 292553 A C SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.1034 p.K345T 1.000 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 68 0 0 22 4 15.3846 DEPDC7 0 genome.wustl.edu 37 11 33054300 33054300 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 33054300 33054300 G T SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known silent c.1224 p.L408 1.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 164 0 0 88 13 12.8713 KIAA1549L 0 genome.wustl.edu 37 11 33564426 33564426 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 33564426 33564426 C G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known silent c.426 p.A142 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 115 0 0 51 13 20.3125 SLC35C1 0 genome.wustl.edu 37 11 45832637 45832637 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 45832637 45832637 C T SNP SLC35C1 ENST00000314134 human ensembl 74_37 +1 known silent c.846 p.Y282 0.969 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 109 0 0 59 11 15.7143 MTCH2 0 genome.wustl.edu 37 11 47656236 47656236 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 47656236 47656236 G A SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known silent c.357 p.H119 0.856 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 MTCH2 HGNC ENSG00000109919 70 0 0 52 6 10.3448 OR51S1 0 genome.wustl.edu 37 11 4870137 4870137 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 4870137 4870137 G T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.302 p.P101H 0.451 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 OR51S1 HGNC ENSG00000176922 169 0 0 67 19 22.093 OR51G1 0 genome.wustl.edu 37 11 4945149 4945149 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 4945149 4945149 C T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.421 p.A141T 0.012 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 OR51G1 HGNC ENSG00000176879 112 0 0 64 8 11.1111 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 146 1 0.680272 57 5 8.06452 OR8H3 0 genome.wustl.edu 37 11 55890547 55890547 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 55890547 55890547 A G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.699 p.G233 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 165 0 0 96 23 19.3277 OR8K1 0 genome.wustl.edu 37 11 56113850 56113850 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 56113850 56113850 T G SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.336 p.I112M 0.000 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 OR8K1 HGNC ENSG00000150261 301 0 0 181 27 12.9808 OR5M8 0 genome.wustl.edu 37 11 56258216 56258216 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 56258216 56258216 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.631 p.F211L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 132 0 0 69 12 14.8148 OR5M10 0 genome.wustl.edu 37 11 56344805 56344805 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 56344805 56344805 A C SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.393 p.H131Q 0.001 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 OR5M10 HGNC ENSG00000254834 152 0 0 71 21 22.8261 SERPING1 0 genome.wustl.edu 37 11 57373908 57373908 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 57373908 57373908 A C SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.917 p.K306T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 211 0 0 87 20 18.6916 LPXN 0 genome.wustl.edu 37 11 58295583 58295583 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 58295583 58295583 C G SNP LPXN ENST00000528954 human ensembl 74_37 -1 known missense c.839 p.R280P 0.995 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 213 0 0 73 10 12.0482 RTN3 0 genome.wustl.edu 37 11 63523611 63523611 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 63523611 63523611 G A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.3022 p.A1008T 0.452 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 175 0 0 67 9 11.8421 CDC42BPG 0 genome.wustl.edu 37 11 64597021 64597021 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 64597021 64597021 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.3889 p.A1297T 0.024 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 29 0 0 15 4 21.0526 NAALADL1 0 genome.wustl.edu 37 11 64824895 64824895 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 64824895 64824895 A C SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.551 p.L184R 0.247 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 108 0 0 44 6 12 SCYL1 0 genome.wustl.edu 37 11 65294436 65294436 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 65294436 65294436 C T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.697 p.P233S 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 55 0 0 22 3 12 CATSPER1 0 genome.wustl.edu 37 11 65793753 65793753 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 65793753 65793753 C A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.98 p.R33M 0.080 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 196 0 0 92 6 6.12245 SLC29A2 0 genome.wustl.edu 37 11 66131005 66131005 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 66131005 66131005 G A SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.1273 p.H425Y 0.012 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 37 0 0 14 4 22.2222 CLCF1 0 genome.wustl.edu 37 11 67134968 67134968 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 67134968 67134968 T C SNP CLCF1 ENST00000312438 human ensembl 74_37 -1 known missense c.146 p.Y49C 1.000 superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC ENSG00000175505 133 0 0 78 13 14.2857 RPS6KB2 0 genome.wustl.edu 37 11 67201739 67201739 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 67201739 67201739 C A SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.1040 p.P347H 0.998 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 472 1 0.211416 229 54 19.0813 PITPNM1 0 genome.wustl.edu 37 11 67267784 67267784 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 67267784 67267784 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 235 0 0 92 11 10.6796 C11orf24 0 genome.wustl.edu 37 11 68030283 68030283 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 68030283 68030283 A C SNP C11orf24 ENST00000304271 human ensembl 74_37 -1 known silent c.180 p.A60 0.000 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 102 0 0 66 17 20.4819 EPS8L2 0 genome.wustl.edu 37 11 709431 709431 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 709431 709431 C G SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.24 p.S8R 0.992 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 18 0 0 6 2 25 DHCR7 0 genome.wustl.edu 37 11 71146457 71146457 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 71146457 71146457 G A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.1392 p.A464 0.998 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 170 0 0 76 5 6.17284 EPS8L2 0 genome.wustl.edu 37 11 720211 720211 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 720211 720211 C T SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known silent c.315 p.D105 0.990 pfam_PTB,pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 74 0 0 27 2 6.89655 OR2AT4 0 genome.wustl.edu 37 11 74799925 74799925 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 74799925 74799925 C A SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known missense c.834 p.M278I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 180 0 0 117 13 10 TALDO1 0 genome.wustl.edu 37 11 759008 759008 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 759008 759008 G T SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known nonsense c.280 p.E94* 0.995 pfam_Transaldolase,tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 293 0 0 104 29 21.8045 TSKU 0 genome.wustl.edu 37 11 76506961 76506961 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 76506961 76506961 C G SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.301 p.P101A 0.987 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 102 0 0 65 18 21.6867 NARS2 0 genome.wustl.edu 37 11 78285486 78285486 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 78285486 78285486 G A SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known silent c.48 p.S16 0.014 NULL pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 90 0 0 48 11 18.6441 PICALM 0 genome.wustl.edu 37 11 85733455 85733455 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 85733455 85733455 A G SNP PICALM ENST00000393346 human ensembl 74_37 -1 known missense c.407 p.V136A 1.000 pfam_ANTH_dom,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 PICALM HGNC ENSG00000073921 170 0 0 89 11 11 SCUBE2 0 genome.wustl.edu 37 11 9090971 9090971 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 9090971 9090971 C T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.589 p.A197T 1.000 smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,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 SCUBE2 HGNC ENSG00000175356 204 0 0 73 11 13.0952 FAT3 0 genome.wustl.edu 37 11 92533395 92533395 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 92533395 92533395 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7216 p.L2406V 0.882 pfam_Cadherin,superfamily_Cadherin-like,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 195 0 0 117 21 15.2174 KDM4E 0 genome.wustl.edu 37 11 94759567 94759567 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 94759567 94759567 C T SNP KDM4E ENST00000450979 human ensembl 74_37 +1 known silent c.846 p.H282 0.952 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 70 0 0 42 5 10.6383 SBF2 0 genome.wustl.edu 37 11 9878204 9878204 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 9878204 9878204 G A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.2164 p.R722C 1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,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 SBF2 HGNC ENSG00000133812 417 1 0.239234 172 25 12.6904 ANKS1B 0 genome.wustl.edu 37 12 100169377 100169377 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 100169377 100169377 G T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.910 p.Q304K 0.993 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 58 0 0 23 6 20.6897 STYK1 0 genome.wustl.edu 37 12 10777340 10777340 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 10777340 10777340 C T SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.836 p.R279Q 0.013 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 309 1 0.322581 138 29 17.3653 CUX2 0 genome.wustl.edu 37 12 111746230 111746230 + Splice_Site SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 111746230 111746230 G T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known splice_site c.1159-1 e14-1 1.000 - - - no_errors CUX2 HGNC ENSG00000111249 70 0 0 34 5 12.8205 ACAD10 0 genome.wustl.edu 37 12 112182513 112182513 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 112182513 112182513 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known nonsense c.1874 p.W625* 1.000 NULL pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 158 0 0 73 12 14.1176 PTPN11 0 genome.wustl.edu 37 12 112926847 112926847 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 112926847 112926847 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.1467 p.D489 0.887 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 241 0 0 93 22 19.1304 RPH3A 0 genome.wustl.edu 37 12 113314620 113314620 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 113314620 113314620 C A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1120 p.P374T 0.990 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 120 0 0 45 7 13.4615 OAS3 0 genome.wustl.edu 37 12 113385824 113385824 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 113385824 113385824 G C SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.949 p.A317P 0.905 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 39 0 0 13 5 27.7778 FBXO21 0 genome.wustl.edu 37 12 117612011 117612011 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 117612011 117612011 T C SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.875 p.Q292R 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 142 0 0 89 20 18.3486 SUDS3 0 genome.wustl.edu 37 12 118828954 118828954 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 118828954 118828954 C T SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known silent c.387 p.Y129 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 147 0 0 58 13 18.3099 LRP6 0 genome.wustl.edu 37 12 12334193 12334193 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 12334193 12334193 C T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.1157 p.R386H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 212 0 0 120 8 6.25 SLC15A4 0 genome.wustl.edu 37 12 129293469 129293469 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 129293469 129293469 A C SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known silent c.1122 p.A374 0.001 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 180 0 0 53 10 15.873 ULK1 0 genome.wustl.edu 37 12 132404023 132404023 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 132404023 132404023 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.2691 p.A897 0.129 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 64 0 0 38 3 7.31707 POLE 0 genome.wustl.edu 37 12 133210934 133210934 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 133210934 133210934 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.5842 p.D1948Y 0.013 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 108 0 0 50 9 15.2542 POLE 0 genome.wustl.edu 37 12 133219578 133219578 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 133219578 133219578 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4556 p.R1519H 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 40 0 0 22 7 24.1379 GRIN2B 0 genome.wustl.edu 37 12 13716375 13716375 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 13716375 13716375 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3797 p.P1266L 0.998 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 151 1 0.657895 55 17 23.6111 GRIN2B 0 genome.wustl.edu 37 12 13768095 13768095 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 13768095 13768095 A C SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1607 p.V536G 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 175 0 0 76 22 22.449 GRIN2B 0 genome.wustl.edu 37 12 13906806 13906806 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 13906806 13906806 T G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.455 p.Q152P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 87 0 0 48 11 18.6441 PDE3A 0 genome.wustl.edu 37 12 20833224 20833224 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 20833224 20833224 G A SNP PDE3A ENST00000544307 human ensembl 74_37 +1 known rna NULL NULL 0.073 - - - no_errors PDE3A HGNC ENSG00000172572 89 0 0 42 5 10.6383 SLCO1B3 0 genome.wustl.edu 37 12 21220293 21220293 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 21220293 21220293 C T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1906 p.H636Y 0.427 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 16 0 0 5 3 37.5 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 119 1 0.833333 46 15 24.5902 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 KRAS HGNC ENSG00000133703 25 0 0 19 5 20.8333 LRRK2 0 genome.wustl.edu 37 12 40645122 40645122 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 40645122 40645122 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known nonsense c.1047 p.W349* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 64 0 0 33 4 10.8108 KDM5A 0 genome.wustl.edu 37 12 432830 432830 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 432830 432830 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.2086 p.R696W 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,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 KDM5A HGNC ENSG00000073614 173 0 0 64 19 22.8916 NELL2 0 genome.wustl.edu 37 12 45209887 45209887 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 45209887 45209887 T C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.367 p.T123A 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 206 0 0 106 12 10.1695 ANO6 0 genome.wustl.edu 37 12 45741846 45741846 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 45741846 45741846 C T SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known silent c.381 p.H127 0.971 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 107 0 0 79 7 8.13953 ZNF641 0 genome.wustl.edu 37 12 48737166 48737166 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 48737166 48737166 G A SNP ZNF641 ENST00000301042 human ensembl 74_37 -1 known nonsense c.907 p.R303* 0.760 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 ZNF641 HGNC ENSG00000167528 151 0 0 73 11 13.0952 KCNA6 0 genome.wustl.edu 37 12 4919281 4919281 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 4919281 4919281 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.74 p.A25V 0.992 prints_K_chnl_volt-dep_Kv1.6 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 106 0 0 27 6 18.1818 RHEBL1 0 genome.wustl.edu 37 12 49462855 49462855 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 49462855 49462855 G A SNP RHEBL1 ENST00000550797 human ensembl 74_37 -1 known missense c.155 p.A52V 0.999 NULL NULL - no_errors RHEBL1 HGNC ENSG00000167550 209 0 0 95 12 11.215 DIP2B 0 genome.wustl.edu 37 12 51116998 51116998 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 51116998 51116998 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.3180 p.I1060 0.910 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 143 0 0 54 15 21.7391 KRT80 0 genome.wustl.edu 37 12 52565273 52565273 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 52565273 52565273 G A SNP KRT80 ENST00000394815 human ensembl 74_37 -1 known missense c.1268 p.S423F 0.995 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT80 HGNC ENSG00000167767 86 0 0 43 5 10.4167 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 130 0 0 21 25 54.3478 KRT6A 0 genome.wustl.edu 37 12 52885450 52885450 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 52885450 52885450 T G SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.611 p.K204T 0.455 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 208 0 0 87 9 9.375 KRT71 0 genome.wustl.edu 37 12 52946555 52946555 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 52946555 52946555 G T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known missense c.307 p.H103N 0.989 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 159 0 0 86 19 18.0952 KRT73 0 genome.wustl.edu 37 12 53004418 53004418 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 53004418 53004418 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.1312 p.L438 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 139 0 0 49 10 16.9492 KRT4 0 genome.wustl.edu 37 12 53202626 53202626 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 53202626 53202626 G T SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known silent c.1065 p.S355 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 125 0 0 39 6 13.3333 CSAD 0 genome.wustl.edu 37 12 53564261 53564261 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 53564261 53564261 G A SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.674 p.A225V 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 121 0 0 35 6 14.6341 HOXC13 0 genome.wustl.edu 37 12 54333266 54333266 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 54333266 54333266 G A SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known silent c.576 p.S192 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 61 0 0 22 9 29.0323 CBX5 0 genome.wustl.edu 37 12 54651347 54651347 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 54651347 54651347 C T SNP CBX5 ENST00000209875 human ensembl 74_37 -1 known missense c.88 p.V30M 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 209 0 0 76 13 14.6067 OR6C6 0 genome.wustl.edu 37 12 55688543 55688543 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 55688543 55688543 C T SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known silent c.474 p.L158 0.000 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 OR6C6 HGNC ENSG00000188324 157 0 0 74 12 13.9535 ERBB3 0 genome.wustl.edu 37 12 56495520 56495520 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 56495520 56495520 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3710 p.S1237N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 75 0 0 56 5 8.19672 R3HDM2 0 genome.wustl.edu 37 12 57660560 57660560 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 57660560 57660560 C T SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known silent c.2043 p.Q681 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 48 0 0 26 3 10.3448 INHBC 0 genome.wustl.edu 37 12 57843751 57843751 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 57843751 57843751 C G SNP INHBC ENST00000309668 human ensembl 74_37 +1 known missense c.1005 p.N335K 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 152 0 0 48 7 12.7273 CYP27B1 0 genome.wustl.edu 37 12 58158285 58158285 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 58158285 58158285 C T SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.1012 p.E338K 0.976 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 264 0 0 100 15 13.0435 CD27 0 genome.wustl.edu 37 12 6559355 6559355 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 6559355 6559355 C T SNP CD27 ENST00000266557 human ensembl 74_37 +1 known silent c.285 p.N95 0.992 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 82 0 0 43 7 14 COPS7A 0 genome.wustl.edu 37 12 6840290 6840290 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 6840290 6840290 C T SNP COPS7A ENST00000538410 human ensembl 74_37 +1 novel missense c.761 p.P254L 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 36 0 0 14 3 17.6471 LRRIQ1 0 genome.wustl.edu 37 12 85500378 85500378 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 85500378 85500378 A T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3362 p.Q1121L 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 112 0 0 76 12 13.6364 C12orf50 0 genome.wustl.edu 37 12 88420304 88420304 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 88420304 88420304 G A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.94 p.P32S 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 74 0 0 43 5 10.4167 A2M 0 genome.wustl.edu 37 12 9227269 9227269 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 9227269 9227269 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3643 p.A1215T 0.997 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 54 0 0 20 4 16.6667 MYO16 0 genome.wustl.edu 37 13 109507879 109507879 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 109507879 109507879 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1271 p.R424H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 40 0 0 33 5 13.1579 SOX1 0 genome.wustl.edu 37 13 112722172 112722172 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 112722172 112722172 G A SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.200 p.R67H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 82 0 0 27 5 15.625 TUBA3C 0 genome.wustl.edu 37 13 19748247 19748247 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 19748247 19748247 T G SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.1109 p.K370T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin 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 122 0 0 58 20 25.641 GPR12 0 genome.wustl.edu 37 13 27333706 27333706 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 27333706 27333706 C A SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.259 p.A87S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 198 0 0 63 14 18.1818 EEF1DP3 0 genome.wustl.edu 37 13 32527308 32527308 + RNA SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 32527308 32527308 G T SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 36 0 0 25 5 16.6667 SMAD9 0 genome.wustl.edu 37 13 37446842 37446842 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 37446842 37446842 T C SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.623 p.H208R 0.994 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 77 0 0 48 6 11.1111 FREM2 0 genome.wustl.edu 37 13 39261866 39261866 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 39261866 39261866 T G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.385 p.C129G 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 26 0 0 7 5 41.6667 DGKH 0 genome.wustl.edu 37 13 42793377 42793377 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 42793377 42793377 G A SNP DGKH ENST00000337343 human ensembl 74_37 +1 known silent c.3225 p.S1075 0.687 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 336 1 0.296736 152 38 20 AKAP11 0 genome.wustl.edu 37 13 42874175 42874175 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 42874175 42874175 G A SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.1293 p.P431 0.031 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 296 0 0 127 40 23.9521 CDADC1 0 genome.wustl.edu 37 13 49852489 49852489 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 49852489 49852489 A C SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.1054 p.S352R 0.044 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 393 0 0 217 48 18.1132 PHF11 0 genome.wustl.edu 37 13 50096243 50096243 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 50096243 50096243 G T SNP PHF11 ENST00000378319 human ensembl 74_37 +1 known missense c.570 p.Q190H 0.027 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 93 0 0 52 11 17.4603 INTS6 0 genome.wustl.edu 37 13 52004473 52004473 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 52004473 52004473 G C SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known missense c.386 p.T129S 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 266 0 0 170 27 13.7056 LOC101927016 0 genome.wustl.edu 37 13 64320951 64320951 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 64320951 64320951 C T SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known silent c.18 p.Y6 0.994 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 77 0 0 42 9 17.6471 PCDH9 0 genome.wustl.edu 37 13 67800090 67800090 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 67800090 67800090 A G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2483 p.V828A 0.938 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 236 0 0 119 27 18.4932 LMO7 0 genome.wustl.edu 37 13 76416988 76416988 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 76416988 76416988 C A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.4189 p.P1397T 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 143 0 0 76 6 7.31707 SCEL 0 genome.wustl.edu 37 13 78133954 78133954 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 78133954 78133954 T C SNP SCEL ENST00000349847 human ensembl 74_37 +1 known silent c.177 p.G59 0.900 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 233 0 0 87 18 17.1429 RNF219 0 genome.wustl.edu 37 13 79190731 79190731 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 79190731 79190731 G T SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.1165 p.P389T 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 191 0 0 115 15 11.5385 ABCC4 0 genome.wustl.edu 37 13 95839089 95839089 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 95839089 95839089 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1411 p.V471M 0.998 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 66 0 0 22 5 18.5185 SNORD114-18 0 genome.wustl.edu 37 14 101442166 101442166 + RNA SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 101442166 101442166 T A SNP SNORD114-18 ENST00000365272 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-18 HGNC ENSG00000202142 166 0 0 78 11 12.3596 BAG5 0 genome.wustl.edu 37 14 104026975 104026975 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 104026975 104026975 G C SNP BAG5 ENST00000337322 human ensembl 74_37 -1 known missense c.650 p.S217C 0.948 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 154 0 0 81 18 18.1818 ZFYVE21 0 genome.wustl.edu 37 14 104194223 104194223 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 104194223 104194223 C T SNP ZFYVE21 ENST00000216602 human ensembl 74_37 +1 known silent c.330 p.Y110 0.998 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE21 HGNC ENSG00000100711 60 0 0 20 9 31.0345 PPP1R13B 0 genome.wustl.edu 37 14 104205315 104205315 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 104205315 104205315 G A SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2638 p.H880Y 1.000 superfamily_SH3_domain 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 246 0 0 110 12 9.83607 RNASE9 0 genome.wustl.edu 37 14 21025068 21025068 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 21025068 21025068 G A SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.161 p.T54I 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 169 0 0 87 22 20.1835 RNASE12 0 genome.wustl.edu 37 14 21058544 21058544 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 21058544 21058544 G A SNP RNASE12 ENST00000556526 human ensembl 74_37 -1 known silent c.339 p.G113 0.096 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE12 HGNC ENSG00000258436 146 0 0 81 16 16.4948 LRRC16B 0 genome.wustl.edu 37 14 24528103 24528103 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 24528103 24528103 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.1479 p.F493 0.777 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 99 0 0 29 5 14.7059 LRRC16B 0 genome.wustl.edu 37 14 24530829 24530829 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 24530829 24530829 A G SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2428 p.I810V 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 113 0 0 38 5 11.6279 ARHGAP5 0 genome.wustl.edu 37 14 32563365 32563365 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 32563365 32563365 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.3490 p.A1164T 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 177 0 0 76 15 16.4835 INSM2 0 genome.wustl.edu 37 14 36005050 36005050 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 36005050 36005050 C T SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.1592 p.P531L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 90 0 0 47 13 21.6667 SEC23A 0 genome.wustl.edu 37 14 39509940 39509940 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 39509940 39509940 C T SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.2138 p.S713N 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 195 0 0 94 19 16.8142 SEC23A 0 genome.wustl.edu 37 14 39517897 39517897 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 39517897 39517897 T G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.1696 p.S566R 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 63 0 0 33 6 15.3846 FSCB 0 genome.wustl.edu 37 14 44974445 44974445 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 44974445 44974445 T G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1746 p.E582D 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 78 0 0 28 7 20 FAM179B 0 genome.wustl.edu 37 14 45478227 45478227 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 45478227 45478227 A G SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.3016 p.T1006A 0.230 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 146 0 0 60 17 22.0779 FANCM 0 genome.wustl.edu 37 14 45628389 45628389 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 45628389 45628389 T G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.1487 p.L496R 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 67 0 0 27 9 25 ENSG00000258882 0 genome.wustl.edu 37 14 62331956 62331956 + RNA SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 62331956 62331956 G T SNP ENSG00000258882 ENST00000554436 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors CTD-2277K2.1 Clone_based_vega_gene ENSG00000258882 106 0 0 32 9 21.9512 SPTB 0 genome.wustl.edu 37 14 65261234 65261234 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 65261234 65261234 G T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.1746 p.D582E 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 293 0 0 136 26 16.0494 GALNT16 0 genome.wustl.edu 37 14 69791495 69791495 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 69791495 69791495 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.422 p.R141H 1.000 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 68 0 0 36 6 14.2857 GOLGA5 0 genome.wustl.edu 37 14 93264325 93264325 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 93264325 93264325 C T SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known silent c.543 p.H181 1.000 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 228 0 0 110 16 12.6984 ITPK1 0 genome.wustl.edu 37 14 93483104 93483104 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 93483104 93483104 C A SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known missense c.163 p.V55F 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 124 0 0 66 10 13.1579 MAGEL2 0 genome.wustl.edu 37 15 23890249 23890249 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 23890249 23890249 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.832 p.R278C 0.010 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 104 0 0 48 14 22.5806 SNHG14 0 genome.wustl.edu 37 15 25330357 25330357 + RNA SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 25330357 25330357 A C SNP SNHG14 ENST00000383025 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 13 0 0 17 3 15 SNHG14 0 genome.wustl.edu 37 15 25451275 25451275 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 25451275 25451275 C T SNP SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 65 0 0 71 10 12.3457 SNHG14 0 genome.wustl.edu 37 15 25463828 25463828 + RNA SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 25463828 25463828 A G SNP SNHG14 ENST00000365067 human ensembl 74_37 +1 known rna NULL NULL 0.122 - - - no_errors SNHG14 HGNC ENSG00000224078 681 1 0.146628 281 53 15.8683 UBE3A 0 genome.wustl.edu 37 15 25616247 25616247 + Silent SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 25616247 25616247 T A SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known silent c.1083 p.L361 0.950 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 227 0 0 102 26 20.3125 ATP10A 0 genome.wustl.edu 37 15 25953353 25953353 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 25953353 25953353 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2439 p.I813 0.845 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 167 0 0 47 13 21.6667 MAPKBP1 0 genome.wustl.edu 37 15 42105153 42105153 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 42105153 42105153 C T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.673 p.L225 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 148 0 0 49 5 9.25926 PLA2G4F 0 genome.wustl.edu 37 15 42434768 42434768 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 42434768 42434768 A C SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.2293 p.F765V 1.000 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_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 114 0 0 45 8 15.0943 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 96 0 0 34 22 39.2857 FAM214A 0 genome.wustl.edu 37 15 52970292 52970292 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 52970292 52970292 C T SNP FAM214A ENST00000562351 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM214A HGNC ENSG00000047346 91 0 0 29 13 30.9524 VPS13C 0 genome.wustl.edu 37 15 62214654 62214654 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 62214654 62214654 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.6917 p.S2306L 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 168 0 0 95 14 12.844 HERC1 0 genome.wustl.edu 37 15 64017644 64017644 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 64017644 64017644 C A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.3415 p.V1139L 1.000 NULL 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 232 1 0.429185 73 15 17.0455 CILP 0 genome.wustl.edu 37 15 65495770 65495770 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 65495770 65495770 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.958 p.R320W 0.974 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 116 0 0 52 12 18.75 ZWILCH 0 genome.wustl.edu 37 15 66829594 66829594 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 66829594 66829594 T C SNP ZWILCH ENST00000307897 human ensembl 74_37 +1 known missense c.1567 p.Y523H 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 83 0 0 49 7 12.5 PARP6 0 genome.wustl.edu 37 15 72552998 72552998 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 72552998 72552998 T C SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.577 p.M193V 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 683 1 0.146199 352 61 14.77 SEMA7A 0 genome.wustl.edu 37 15 74703669 74703669 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 74703669 74703669 C T SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.1606 p.E536K 0.927 superfamily_Plexin-like_fold,smart_Plexin-like_fold 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 50 0 0 28 7 20 SNX33 0 genome.wustl.edu 37 15 75942116 75942116 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 75942116 75942116 G A SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 superfamily_Phox,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 256 1 0.389105 89 20 18.3486 TBC1D2B 0 genome.wustl.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 78290635 78290635 C T SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.2759 p.R920Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 34 0 0 14 2 12.5 FAH 0 genome.wustl.edu 37 15 80450431 80450431 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 80450431 80450431 C T SNP FAH ENST00000261755 human ensembl 74_37 +1 known silent c.111 p.G37 0.028 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 168 0 0 92 15 14.0187 KIAA1199 0 genome.wustl.edu 37 15 81201537 81201537 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 81201537 81201537 G A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.1687 p.G563S 0.998 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 96 0 0 41 11 21.1538 TMC3 0 genome.wustl.edu 37 15 81650758 81650758 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 81650758 81650758 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known silent c.585 p.T195 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 81 0 0 45 6 11.7647 BNC1 0 genome.wustl.edu 37 15 83932879 83932879 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 83932879 83932879 T G SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1124 p.H375P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 146 0 0 96 18 15.7895 NTRK3 0 genome.wustl.edu 37 15 88679770 88679770 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 88679770 88679770 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.693 p.C231 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 65 0 0 16 7 30.4348 TXNDC11 0 genome.wustl.edu 37 16 11794372 11794372 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 11794372 11794372 G C SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.923 p.A308G 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 127 0 0 42 18 30 CLCN7 0 genome.wustl.edu 37 16 1498392 1498392 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 1498392 1498392 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.1977 p.N659 0.282 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 76 0 0 25 4 13.7931 ABCC6 0 genome.wustl.edu 37 16 16297439 16297439 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 16297439 16297439 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.826 p.G276S 0.013 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 91 0 0 38 12 24 CASKIN1 0 genome.wustl.edu 37 16 2239107 2239107 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 2239107 2239107 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.538 p.R180W 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 79 0 0 34 9 20.9302 CASKIN1 0 genome.wustl.edu 37 16 2240163 2240163 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 2240163 2240163 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.155 p.A52V 1.000 pfam_Ankyrin_rpt,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,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 70 0 0 16 9 36 NTN3 0 genome.wustl.edu 37 16 2522136 2522136 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 2522136 2522136 C T SNP NTN3 ENST00000293973 human ensembl 74_37 +1 known missense c.434 p.A145V 0.915 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 75 0 0 33 7 17.5 ZNF267 0 genome.wustl.edu 37 16 31925888 31925888 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 31925888 31925888 T C SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known silent c.318 p.C106 0.001 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 ZNF267 HGNC ENSG00000185947 175 0 0 48 9 15.7895 ADCY9 0 genome.wustl.edu 37 16 4057518 4057518 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 4057518 4057518 A T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.1735 p.S579T 0.991 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 173 0 0 48 18 27.2727 C16orf78 0 genome.wustl.edu 37 16 49433085 49433085 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 49433085 49433085 T G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.694 p.L232V 1.000 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 118 0 0 63 12 16 GPR56 0 genome.wustl.edu 37 16 57685389 57685389 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 57685389 57685389 C A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.342 p.D114E 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 104 0 0 47 6 11.3208 CDH11 0 genome.wustl.edu 37 16 65005503 65005503 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 65005503 65005503 A G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1621 p.F541L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 72 0 0 59 6 9.23077 E2F4 0 genome.wustl.edu 37 16 67227352 67227352 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 67227352 67227352 G T SNP E2F4 ENST00000568839 human ensembl 74_37 +1 known missense c.273 p.Q91H 0.054 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 158 0 0 84 24 22.2222 NUTF2 0 genome.wustl.edu 37 16 67899125 67899125 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 67899125 67899125 C T SNP NUTF2 ENST00000219169 human ensembl 74_37 +1 known missense c.92 p.A31V 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC ENSG00000102898 73 0 0 39 7 15.2174 EDC4 0 genome.wustl.edu 37 16 67917602 67917602 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 67917602 67917602 T C SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.3981 p.S1327 0.937 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 422 1 0.236407 123 33 21.1538 HYDIN 0 genome.wustl.edu 37 16 70916576 70916576 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 70916576 70916576 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.10202 p.P3401L 0.997 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 77 0 0 37 7 15.9091 DHX38 0 genome.wustl.edu 37 16 72131582 72131582 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 72131582 72131582 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.518 p.R173Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,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 DHX38 HGNC ENSG00000140829 36 0 0 16 3 15.7895 ZFHX3 0 genome.wustl.edu 37 16 72829238 72829238 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 72829238 72829238 C G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.7343 p.G2448A 0.967 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 ZFHX3 HGNC ENSG00000140836 129 0 0 47 10 17.5439 FBXL16 0 genome.wustl.edu 37 16 744686 744686 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 744686 744686 G C SNP FBXL16 ENST00000324361 human ensembl 74_37 -1 known missense c.1239 p.F413L 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 25 0 0 6 3 33.3333 ADAMTS18 0 genome.wustl.edu 37 16 77398116 77398116 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 77398116 77398116 A T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.941 p.V314D 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS18 HGNC ENSG00000140873 187 0 0 66 25 27.4725 NARFL 0 genome.wustl.edu 37 16 789666 789666 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 789666 789666 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known missense c.139 p.G47R 1.000 NULL pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 190 0 0 75 14 15.7303 CDH13 0 genome.wustl.edu 37 16 83159001 83159001 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 83159001 83159001 A T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.378 p.K126N 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 50 0 0 16 4 20 NECAB2 0 genome.wustl.edu 37 16 84030847 84030847 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 84030847 84030847 C T SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known silent c.822 p.R274 0.986 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 100 0 0 28 8 22.2222 FOXL1 0 genome.wustl.edu 37 16 86612679 86612679 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 86612679 86612679 C T SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known missense c.350 p.P117L 0.998 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 FOXL1 HGNC ENSG00000176678 233 0 0 80 22 21.5686 ANKRD11 0 genome.wustl.edu 37 16 89351098 89351098 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 89351098 89351098 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1852 p.A618T 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 109 0 0 66 4 5.71429 MYH1 0 genome.wustl.edu 37 17 10402102 10402102 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 10402102 10402102 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4022 p.R1341H 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 167 0 0 75 15 16.6667 SREBF1 0 genome.wustl.edu 37 17 17723594 17723594 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 17723594 17723594 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known silent c.423 p.P141 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 150 0 0 51 7 12.069 SMCR8 0 genome.wustl.edu 37 17 18220056 18220056 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 18220056 18220056 A C SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.953 p.K318T 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 103 0 0 57 11 16.1765 USP22 0 genome.wustl.edu 37 17 20921343 20921343 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 20921343 20921343 C T SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.602 p.R201Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 171 0 0 66 13 16.4557 UBBP4 0 genome.wustl.edu 37 17 21731451 21731451 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 21731451 21731451 G A SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.526 p.E176K 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 93 0 0 45 10 18.1818 POLDIP2 0 genome.wustl.edu 37 17 26675234 26675234 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 26675234 26675234 G C SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known missense c.1013 p.P338R 1.000 superfamily_ApaG_domain,pfscan_ApaG_domain pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 92 0 0 29 5 14.7059 MYO18A 0 genome.wustl.edu 37 17 27413999 27413999 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 27413999 27413999 C G SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.5667 p.E1889D 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 49 0 0 26 7 21.2121 MYO18A 0 genome.wustl.edu 37 17 27442109 27442109 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 27442109 27442109 T A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.2327 p.K776M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 50 0 0 8 6 42.8571 ANKRD13B 0 genome.wustl.edu 37 17 27934839 27934839 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 27934839 27934839 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.194 p.R65H 0.988 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 69 0 0 43 4 8.51064 SSH2 0 genome.wustl.edu 37 17 27958633 27958633 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 27958633 27958633 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.3498 p.S1166 0.000 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 116 0 0 55 10 15.3846 ZNF207 0 genome.wustl.edu 37 17 30685633 30685633 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 30685633 30685633 C G SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.280 p.R94G 0.984 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 152 0 0 75 18 19.3548 LIG3 0 genome.wustl.edu 37 17 33323671 33323671 + Nonsense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 33323671 33323671 A T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known nonsense c.1822 p.R608* 1.000 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 168 0 0 122 19 13.4752 RFFL 0 genome.wustl.edu 37 17 33338995 33338995 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 33338995 33338995 G A SNP RFFL ENST00000315249 human ensembl 74_37 -1 known missense c.1084 p.R362W 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 138 0 0 56 7 11.1111 TRPV3 0 genome.wustl.edu 37 17 3458106 3458106 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 3458106 3458106 G C SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known silent c.39 p.G13 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 84 0 0 21 8 27.5862 THRA 0 genome.wustl.edu 37 17 38249587 38249587 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 38249587 38249587 G T SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.1425 p.E475D 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 55 0 0 25 3 10.7143 KRT222 0 genome.wustl.edu 37 17 38821186 38821186 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 38821186 38821186 G C SNP KRT222 ENST00000394049 human ensembl 74_37 -1 known missense c.166 p.R56G 1.000 NULL NULL - no_errors KRT222 HGNC ENSG00000213424 74 0 0 56 26 31.7073 KRTAP9-4 0 genome.wustl.edu 37 17 39406320 39406320 + Nonsense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 39406320 39406320 C A SNP KRTAP9-4 ENST00000334109 human ensembl 74_37 +1 known nonsense c.348 p.C116* 0.018 NULL NULL - no_errors KRTAP9-4 HGNC ENSG00000241595 382 0 0 186 63 25.3012 KRT31 0 genome.wustl.edu 37 17 39551161 39551161 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 39551161 39551161 G A SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.1036 p.R346C 0.994 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 264 0 0 131 24 15.4839 LOC100505782 0 genome.wustl.edu 37 17 39564977 39564977 + RNA SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 39564977 39564977 G C SNP LOC100505782 ENST00000430006 human ensembl 74_37 +1 known rna NULL NULL 0.677 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 38 0 0 23 6 20.6897 GPATCH8 0 genome.wustl.edu 37 17 42541896 42541896 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 42541896 42541896 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.137 p.R46H 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 308 0 0 122 60 32.967 KANSL1 0 genome.wustl.edu 37 17 44248449 44248449 + Nonsense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 44248449 44248449 A T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.1061 p.L354* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 203 0 0 147 12 7.54717 KANSL1 0 genome.wustl.edu 37 17 44248642 44248642 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 44248642 44248642 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.868 p.R290* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 148 0 0 111 7 5.9322 WNT3 0 genome.wustl.edu 37 17 44846085 44846085 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 44846085 44846085 C T SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known silent c.669 p.A223 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 118 0 0 48 21 30.4348 PHB 0 genome.wustl.edu 37 17 47482484 47482484 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 47482484 47482484 G C SNP PHB ENST00000300408 human ensembl 74_37 -1 known missense c.689 p.T230S 0.943 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 40 0 0 21 3 12.5 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 62 0 0 18 8 30.7692 VPS53 0 genome.wustl.edu 37 17 534812 534812 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 534812 534812 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.665 p.A222V 1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 130 0 0 41 5 10.8696 SMG8 0 genome.wustl.edu 37 17 57288479 57288479 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 57288479 57288479 G T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1067 p.R356M 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 114 0 0 71 10 12.3457 BCAS3 0 genome.wustl.edu 37 17 59469373 59469373 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 59469373 59469373 A G SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.2674 p.N892D 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 209 0 0 95 5 5 DCAF7 0 genome.wustl.edu 37 17 61660984 61660984 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 61660984 61660984 G A SNP DCAF7 ENST00000310827 human ensembl 74_37 +1 known missense c.649 p.E217K 1.000 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 - no_errors DCAF7 HGNC ENSG00000136485 109 0 0 48 5 9.43396 MAP3K3 0 genome.wustl.edu 37 17 61770978 61770978 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 61770978 61770978 C T SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known silent c.1815 p.A605 0.013 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_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP3K3 HGNC ENSG00000198909 157 0 0 73 18 19.7802 FTSJ3 0 genome.wustl.edu 37 17 61899483 61899483 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 61899483 61899483 A G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1336 p.F446L 0.631 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 123 0 0 88 15 14.5631 PLEKHM1P 0 genome.wustl.edu 37 17 62810981 62810981 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 62810981 62810981 C T SNP PLEKHM1P ENST00000580919 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PLEKHM1P HGNC ENSG00000214176 30 0 0 14 7 33.3333 FAM64A 0 genome.wustl.edu 37 17 6350927 6350927 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 6350927 6350927 G A SNP FAM64A ENST00000250056 human ensembl 74_37 +1 known missense c.439 p.A147T 0.056 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC ENSG00000129195 51 0 0 24 4 14.2857 BPTF 0 genome.wustl.edu 37 17 65924597 65924597 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 65924597 65924597 A T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.6256 p.T2086S 0.032 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 99 0 0 53 7 11.6667 WIPI1 0 genome.wustl.edu 37 17 66446986 66446986 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 66446986 66446986 C G SNP WIPI1 ENST00000262139 human ensembl 74_37 -1 known silent c.216 p.V72 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 172 0 0 105 15 12.5 TEKT1 0 genome.wustl.edu 37 17 6716254 6716254 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 6716254 6716254 C T SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.748 p.A250T 0.727 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 209 0 0 90 24 21.0526 CD300LB 0 genome.wustl.edu 37 17 72518885 72518885 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 72518885 72518885 C A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.709 p.A237S 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 124 0 0 54 25 31.6456 CD300LF 0 genome.wustl.edu 37 17 72700807 72700807 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 72700807 72700807 G T SNP CD300LF ENST00000326165 human ensembl 74_37 -1 known silent c.192 p.I64 0.002 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LF HGNC ENSG00000186074 308 0 0 167 56 25.1121 CASKIN2 0 genome.wustl.edu 37 17 73498180 73498180 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 73498180 73498180 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.2975 p.R992Q 1.000 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 109 0 0 41 4 8.88889 FBF1 0 genome.wustl.edu 37 17 73924169 73924169 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 73924169 73924169 G A SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.343 p.P115S 0.001 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 75 0 0 30 14 31.8182 KDM6B 0 genome.wustl.edu 37 17 7754383 7754383 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 7754383 7754383 G A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3718 p.E1240K 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 49 0 0 18 4 18.1818 CCDC40 0 genome.wustl.edu 37 17 78069165 78069165 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 78069165 78069165 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.871 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 132 0 0 56 18 24.3243 RNF213 0 genome.wustl.edu 37 17 78358856 78358856 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 78358856 78358856 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.14340 p.L4780 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 128 0 0 67 29 30.2083 ENDOV 0 genome.wustl.edu 37 17 78395734 78395734 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 78395734 78395734 G A SNP ENDOV ENST00000518137 human ensembl 74_37 +1 known missense c.335 p.R112Q 0.871 pfam_Endonuclease-V pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 47 0 0 16 3 15.7895 GUCY2D 0 genome.wustl.edu 37 17 7917215 7917215 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 7917215 7917215 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.2281 p.R761W 0.022 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom 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_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 139 0 0 53 14 20.8955 AZI1 0 genome.wustl.edu 37 17 79173612 79173612 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 79173612 79173612 C A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.930 p.E310D 0.489 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 229 0 0 91 12 11.6505 ENSG00000260005 0 genome.wustl.edu 37 17 79204320 79204320 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 79204320 79204320 C T SNP ENSG00000260005 ENST00000575922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000260005 64 0 0 38 15 28.3019 SLC38A10 0 genome.wustl.edu 37 17 79220832 79220832 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 79220832 79220832 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.2095 p.A699T 0.773 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 60 0 0 18 8 30.7692 SECTM1 0 genome.wustl.edu 37 17 80285049 80285049 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 80285049 80285049 G T SNP SECTM1 ENST00000269389 human ensembl 74_37 -1 known missense c.68 p.A23D 0.002 NULL NULL - no_errors SECTM1 HGNC ENSG00000141574 29 0 0 15 4 21.0526 RCVRN 0 genome.wustl.edu 37 17 9801322 9801322 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 9801322 9801322 C T SNP RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RCVRN HGNC ENSG00000109047 49 0 0 36 6 14.2857 APCDD1 0 genome.wustl.edu 37 18 10487638 10487638 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 10487638 10487638 A G SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known missense c.1148 p.N383S 1.000 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 133 0 0 59 5 7.8125 RBBP8 0 genome.wustl.edu 37 18 20586340 20586340 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 20586340 20586340 C G SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.2302 p.Q768E 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 76 0 0 43 16 27.1186 NDC80 0 genome.wustl.edu 37 18 2595494 2595494 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 2595494 2595494 C T SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known silent c.1095 p.D365 1.000 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 134 0 0 58 7 10.7692 DSG4 0 genome.wustl.edu 37 18 28979459 28979459 + Silent SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 28979459 28979459 A T SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known silent c.1230 p.T410 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 154 0 0 70 19 21.3483 DSG3 0 genome.wustl.edu 37 18 29038540 29038540 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 29038540 29038540 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.349 p.R117W 0.981 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 78 0 0 36 11 23.4043 TTR 0 genome.wustl.edu 37 18 29178579 29178579 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 29178579 29178579 G A SNP TTR ENST00000237014 human ensembl 74_37 +1 known missense c.385 p.A129T 0.486 pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC ENSG00000118271 128 0 0 44 5 10.2041 RNF125 0 genome.wustl.edu 37 18 29617149 29617149 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 29617149 29617149 C G SNP RNF125 ENST00000217740 human ensembl 74_37 +1 known missense c.235 p.L79V 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 377 0 0 223 42 15.8491 TCEB3C 0 genome.wustl.edu 37 18 44555312 44555312 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 44555312 44555312 G C SNP TCEB3C ENST00000330682 human ensembl 74_37 -1 known missense c.902 p.S301C 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3C HGNC ENSG00000183791 9 0 0 39 30 43.4783 TMEM200C 0 genome.wustl.edu 37 18 5892008 5892008 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 5892008 5892008 G A SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.55 p.R19C 0.987 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 52 0 0 20 5 20 DSEL 0 genome.wustl.edu 37 18 65180002 65180002 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 65180002 65180002 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1874 p.K625R 0.902 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 93 0 0 55 11 16.6667 LAMA1 0 genome.wustl.edu 37 18 6955431 6955431 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 6955431 6955431 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8128 p.V2710I 0.007 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 70 0 0 23 7 23.3333 LAMA1 0 genome.wustl.edu 37 18 7024437 7024437 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 7024437 7024437 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2431 p.G811R 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 47 0 0 19 3 13.6364 LAMA1 0 genome.wustl.edu 37 18 7049125 7049125 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 7049125 7049125 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.720 p.T240 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 166 1 0.598802 64 8 11.1111 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 45 0 0 12 16 57.1429 VAPA 0 genome.wustl.edu 37 18 9931887 9931887 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 9931887 9931887 A G SNP VAPA ENST00000340541 human ensembl 74_37 +1 known missense c.160 p.T54A 1.000 pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 136 0 0 61 9 12.8571 DNMT1 0 genome.wustl.edu 37 19 10250779 10250779 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 10250779 10250779 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3749 p.R1250H 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 127 0 0 40 6 13.0435 PDE4A 0 genome.wustl.edu 37 19 10556998 10556998 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 10556998 10556998 G A SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.425 p.R142H 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 52 0 0 15 2 11.7647 YIPF2 0 genome.wustl.edu 37 19 11034007 11034007 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 11034007 11034007 G A SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known missense c.911 p.A304V 0.000 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 204 0 0 73 11 13.0952 DOCK6 0 genome.wustl.edu 37 19 11363483 11363483 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 11363483 11363483 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.284 p.T95M 0.983 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 65 0 0 20 7 25.9259 ECSIT 0 genome.wustl.edu 37 19 11624073 11624073 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 11624073 11624073 G A SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known missense c.536 p.T179M 0.998 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 67 0 0 40 12 23.0769 ZNF333 0 genome.wustl.edu 37 19 14829686 14829686 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 14829686 14829686 G A SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.1547 p.R516Q 0.045 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 135 0 0 66 5 7.04225 EMR2 0 genome.wustl.edu 37 19 14877174 14877174 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 14877174 14877174 G A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known silent c.507 p.S169 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom 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 157 0 0 63 17 21.25 SYDE1 0 genome.wustl.edu 37 19 15224418 15224418 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 15224418 15224418 C T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1852 p.P618S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 385 0 0 108 17 13.6 NOTCH3 0 genome.wustl.edu 37 19 15290911 15290911 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 15290911 15290911 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.3299 p.R1100H 0.906 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 91 0 0 61 9 12.8571 TCF3 0 genome.wustl.edu 37 19 1615428 1615428 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 1615428 1615428 G A SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known silent c.1678 p.L560 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 219 0 0 106 13 10.9244 MAST3 0 genome.wustl.edu 37 19 18252811 18252811 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 18252811 18252811 G A SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.2238 p.L746 0.971 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 MAST3 HGNC ENSG00000099308 21 0 0 15 9 37.5 KLHL26 0 genome.wustl.edu 37 19 18779602 18779602 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 18779602 18779602 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known silent c.1395 p.S465 0.266 pfam_Kelch_1,smart_Kelch_1,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 KLHL26 HGNC ENSG00000167487 60 0 0 29 3 9.375 TSSK6 0 genome.wustl.edu 37 19 19626213 19626213 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 19626213 19626213 G A SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.24 p.S8 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 TSSK6 HGNC ENSG00000178093 159 0 0 47 5 9.61538 ATP13A1 0 genome.wustl.edu 37 19 19767528 19767528 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 19767528 19767528 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 56 0 0 15 3 16.6667 JSRP1 0 genome.wustl.edu 37 19 2252963 2252963 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 2252963 2252963 G T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.476 p.P159H 0.418 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 40 0 0 9 3 25 ZNF57 0 genome.wustl.edu 37 19 2917677 2917677 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 2917677 2917677 G A SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1058 p.G353D 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 ZNF57 HGNC ENSG00000171970 98 0 0 56 12 17.6471 CEP89 0 genome.wustl.edu 37 19 33424379 33424379 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 33424379 33424379 A G SNP CEP89 ENST00000305768 human ensembl 74_37 -1 known silent c.864 p.A288 0.002 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 228 0 0 131 11 7.74648 RHPN2 0 genome.wustl.edu 37 19 33512524 33512524 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 33512524 33512524 G C SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.343 p.L115V 0.999 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 112 0 0 54 7 11.4754 ZNF30 0 genome.wustl.edu 37 19 35422801 35422801 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 35422801 35422801 G T SNP ZNF30 ENST00000303586 human ensembl 74_37 +1 known missense c.64 p.A22S 0.988 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF30 HGNC ENSG00000168661 54 0 0 28 6 17.6471 LGI4 0 genome.wustl.edu 37 19 35617783 35617783 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 35617783 35617783 C T SNP LGI4 ENST00000310123 human ensembl 74_37 -1 known missense c.767 p.R256H 0.997 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 49 0 0 22 4 15.3846 FFAR2 0 genome.wustl.edu 37 19 35941244 35941244 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 35941244 35941244 C G SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.628 p.P210A 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 226 0 0 115 18 13.5338 ZBTB32 0 genome.wustl.edu 37 19 36206271 36206271 + Nonsense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36206271 36206271 C A SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known nonsense c.743 p.S248* 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 ZBTB32 HGNC ENSG00000011590 174 0 0 93 9 8.82353 U2AF1L4 0 genome.wustl.edu 37 19 36234944 36234944 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36234944 36234944 G A SNP U2AF1L4 ENST00000412391 human ensembl 74_37 -1 known missense c.451 p.R151W 1.000 pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,prints_U2_small,pfscan_RRM_dom - no_errors U2AF1L4 HGNC ENSG00000161265 135 0 0 62 13 17.3333 ARHGAP33 0 genome.wustl.edu 37 19 36271949 36271949 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36271949 36271949 G T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.957 p.E319D 0.999 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 85 0 0 47 4 7.84314 PRODH2 0 genome.wustl.edu 37 19 36304127 36304127 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36304127 36304127 A G SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known silent c.57 p.I19 0.010 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 44 0 0 26 7 21.2121 NPHS1 0 genome.wustl.edu 37 19 36332672 36332672 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36332672 36332672 A G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.2760 p.C920 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 76 0 0 32 10 23.8095 NFKBID 0 genome.wustl.edu 37 19 36388655 36388655 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36388655 36388655 G A SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known silent c.360 p.S120 0.178 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 57 0 0 33 7 17.5 ZNF790 0 genome.wustl.edu 37 19 37310520 37310520 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 37310520 37310520 A G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known silent c.726 p.T242 0.000 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 ZNF790 HGNC ENSG00000197863 91 0 0 66 14 17.5 ZFP30 0 genome.wustl.edu 37 19 38134164 38134164 + Splice_Site SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38134164 38134164 A G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known splice_site c.235+2 e3+2 0.999 - - - no_errors ZFP30 HGNC ENSG00000120784 402 0 0 156 20 11.3636 ZNF781 0 genome.wustl.edu 37 19 38160451 38160451 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38160451 38160451 A C SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known missense c.599 p.L200R 0.100 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 118 0 0 67 21 23.8636 ZNF573 0 genome.wustl.edu 37 19 38283441 38283441 + RNA SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38283441 38283441 C A SNP ZNF573 ENST00000480587 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF573 HGNC ENSG00000189144 348 0 0 169 22 11.5183 CATSPERG 0 genome.wustl.edu 37 19 38861356 38861356 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38861356 38861356 G A SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.3404 p.G1135D 0.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 160 0 0 90 16 15.0943 FAM98C 0 genome.wustl.edu 37 19 38895639 38895639 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38895639 38895639 A C SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known silent c.441 p.V147 0.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 318 0 0 105 44 29.5302 SARS2 0 genome.wustl.edu 37 19 39412279 39412279 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 39412279 39412279 C T SNP SARS2 ENST00000221431 human ensembl 74_37 -1 known missense c.422 p.R141H 0.000 pirsf_Ser-tRNA-ligase_type_1,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 63 0 0 29 6 17.1429 LTBP4 0 genome.wustl.edu 37 19 41114169 41114169 + Nonsense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 41114169 41114169 C G SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known nonsense c.1401 p.Y467* 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 64 0 0 14 5 26.3158 EXOSC5 0 genome.wustl.edu 37 19 41892595 41892595 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 41892595 41892595 C T SNP EXOSC5 ENST00000221233 human ensembl 74_37 -1 known silent c.651 p.S217 0.001 superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 19 0 0 3 5 62.5 ATP1A3 0 genome.wustl.edu 37 19 42486220 42486220 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 42486220 42486220 C A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.1032 p.K344N 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 247 0 0 83 14 14.433 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 193 1 0.515464 78 22 22 PSG8 0 genome.wustl.edu 37 19 43258708 43258708 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 43258708 43258708 T C SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known silent c.1020 p.S340 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 238 0 0 115 33 22.2973 CHAF1A 0 genome.wustl.edu 37 19 4409294 4409294 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 4409294 4409294 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known silent c.498 p.N166 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 202 0 0 70 13 15.6627 PLAUR 0 genome.wustl.edu 37 19 44174241 44174241 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 44174241 44174241 A G SNP PLAUR ENST00000340093 human ensembl 74_37 -1 known missense c.32 p.L11P 0.130 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 162 0 0 65 26 28.5714 LRG1 0 genome.wustl.edu 37 19 4538912 4538912 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 4538912 4538912 C A SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known silent c.84 p.L28 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 135 0 0 68 7 9.33333 CLPTM1 0 genome.wustl.edu 37 19 45476381 45476381 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 45476381 45476381 C T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known nonsense c.223 p.R75* 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 177 0 0 51 10 16.3934 PPP1R13L 0 genome.wustl.edu 37 19 45885799 45885799 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 45885799 45885799 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.2434 p.R812W 0.757 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain 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 PPP1R13L HGNC ENSG00000104881 152 0 0 59 10 14.4928 SIX5 0 genome.wustl.edu 37 19 46269299 46269299 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 46269299 46269299 C G SNP SIX5 ENST00000317578 human ensembl 74_37 -1 known missense c.1680 p.K560N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX5 HGNC ENSG00000177045 40 0 0 9 5 35.7143 HIF3A 0 genome.wustl.edu 37 19 46815865 46815865 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 46815865 46815865 G A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.980 p.R327Q 0.997 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAC pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 200 0 0 66 12 15.3846 PRKD2 0 genome.wustl.edu 37 19 47207644 47207644 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 47207644 47207644 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.671 p.R224H 0.977 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 244 0 0 79 19 19.3878 NPAS1 0 genome.wustl.edu 37 19 47524418 47524418 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 47524418 47524418 C A SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.114 p.S38 0.084 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 29 0 0 4 4 50 CARD8 0 genome.wustl.edu 37 19 48734252 48734252 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 48734252 48734252 G T SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.554 p.P185H 0.005 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 59 0 0 17 3 15 TBC1D17 0 genome.wustl.edu 37 19 50383626 50383626 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 50383626 50383626 C T SNP TBC1D17 ENST00000221543 human ensembl 74_37 +1 known missense c.286 p.R96W 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 72 0 0 24 9 27.2727 SIGLEC9 0 genome.wustl.edu 37 19 51629040 51629040 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 51629040 51629040 A C SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.608 p.Q203P 0.030 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 158 0 0 55 19 25.6757 SIGLEC8 0 genome.wustl.edu 37 19 51961026 51961026 + RNA SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 51961026 51961026 G C SNP SIGLEC8 ENST00000597352 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SIGLEC8 HGNC ENSG00000105366 129 0 0 51 14 21.5385 NLRP12 0 genome.wustl.edu 37 19 54327332 54327332 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 54327332 54327332 C A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.97 p.G33W 0.997 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 111 0 0 44 10 18.5185 MYADM 0 genome.wustl.edu 37 19 54377623 54377623 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 54377623 54377623 C T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known silent c.840 p.S280 0.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 99 0 0 44 13 22.807 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 331 1 0.301205 144 13 8.28025 LILRB2 0 genome.wustl.edu 37 19 54780272 54780272 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 54780272 54780272 C A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.1522 p.V508L 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 77 0 0 32 3 8.57143 LENG8 0 genome.wustl.edu 37 19 54966670 54966670 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 54966670 54966670 C A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.949 p.L317I 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 60 0 0 28 6 17.6471 NLRP7 0 genome.wustl.edu 37 19 55451393 55451393 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 55451393 55451393 A G SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.878 p.L293P 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 141 0 0 78 15 16.129 NLRP13 0 genome.wustl.edu 37 19 56423312 56423312 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 56423312 56423312 C G SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.1871 p.G624A 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 112 0 0 72 12 14.2857 ZNF582 0 genome.wustl.edu 37 19 56896485 56896485 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 56896485 56896485 G T SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.301 p.Q101K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 170 0 0 75 20 21.0526 PEG3 0 genome.wustl.edu 37 19 57328104 57328104 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 57328104 57328104 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1706 p.K569T 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 151 0 0 83 16 16.1616 ZNF304 0 genome.wustl.edu 37 19 57867521 57867521 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 57867521 57867521 A G SNP ZNF304 ENST00000282286 human ensembl 74_37 +1 known missense c.284 p.D95G 0.002 smart_Znf_C2H2-like,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 ZNF304 HGNC ENSG00000131845 98 0 0 52 9 14.7541 ZSCAN18 0 genome.wustl.edu 37 19 58600105 58600105 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 58600105 58600105 C G SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.671 p.S224T 0.023 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 111 1 0.892857 23 26 53.0612 ZNF329 0 genome.wustl.edu 37 19 58640743 58640743 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 58640743 58640743 T A SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.128 p.Q43L 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 214 0 0 128 24 15.7895 ZNF358 0 genome.wustl.edu 37 19 7585755 7585755 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 7585755 7585755 A G SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.1627 p.T543A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 172 0 0 49 17 25.7576 MYO1F 0 genome.wustl.edu 37 19 8612926 8612926 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 8612926 8612926 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.1263 p.A421 0.797 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 158 0 0 74 18 19.5652 ZNF558 0 genome.wustl.edu 37 19 8932690 8932690 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 8932690 8932690 T A SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known missense c.109 p.S37C 0.537 superfamily_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 ZNF558 HGNC ENSG00000167785 237 0 0 91 19 17.2727 MUC16 0 genome.wustl.edu 37 19 9076901 9076901 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 9076901 9076901 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.10545 p.H3515 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 268 0 0 99 19 16.1017 MUC16 0 genome.wustl.edu 37 19 9082878 9082878 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 9082878 9082878 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.8937 p.T2979 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 178 0 0 93 19 16.9643 MUC16 0 genome.wustl.edu 37 19 9085752 9085752 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 9085752 9085752 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.6063 p.S2021 0.193 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 154 0 0 75 12 13.7931 ZNF121 0 genome.wustl.edu 37 19 9677679 9677679 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 9677679 9677679 T C SNP ZNF121 ENST00000586602 human ensembl 74_37 -1 known missense c.110 p.D37G 0.984 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 92 0 0 44 13 22.807 FBXL12 0 genome.wustl.edu 37 19 9921757 9921757 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 9921757 9921757 G C SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.796 p.P266A 0.450 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 49 0 0 18 3 14.2857 SLC9A4 0 genome.wustl.edu 37 2 103095359 103095359 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 103095359 103095359 G C SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.318 p.V106 0.456 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 128 0 0 47 8 14.5455 SLC9A2 0 genome.wustl.edu 37 2 103281692 103281692 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 103281692 103281692 C T SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.887 p.A296V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 182 0 0 117 8 6.4 PSD4 0 genome.wustl.edu 37 2 113953852 113953852 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 113953852 113953852 G A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.2354 p.R785Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 52 0 0 26 7 21.2121 SNTG2 0 genome.wustl.edu 37 2 1251209 1251209 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 1251209 1251209 T C SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.999 p.T333 0.007 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 61 0 0 32 3 8.57143 RAB6C 0 genome.wustl.edu 37 2 130738406 130738406 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 130738406 130738406 T C SNP RAB6C ENST00000410061 human ensembl 74_37 +1 known silent c.718 p.L240 0.952 NULL 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 RAB6C HGNC ENSG00000222014 166 0 0 73 12 14.1176 MAP3K19 0 genome.wustl.edu 37 2 135756477 135756477 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 135756477 135756477 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.405 p.K135 0.000 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 MAP3K19 HGNC ENSG00000176601 123 0 0 77 11 12.5 THSD7B 0 genome.wustl.edu 37 2 137872832 137872832 + Silent SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 137872832 137872832 A T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1338 p.V446 0.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 38 0 0 21 4 16 LRP1B 0 genome.wustl.edu 37 2 141260572 141260572 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 141260572 141260572 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8622 p.H2874Q 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 121 0 0 78 14 15.2174 TPO 0 genome.wustl.edu 37 2 1418192 1418192 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 1418192 1418192 C G SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.12 p.L4 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 37 0 0 31 3 8.82353 ZEB2 0 genome.wustl.edu 37 2 145156151 145156151 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 145156151 145156151 T A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2603 p.E868V 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 183 0 0 73 15 17.0455 ZEB2 0 genome.wustl.edu 37 2 145156152 145156152 + Nonsense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 145156152 145156152 C A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known nonsense c.2602 p.E868* 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 182 0 0 70 15 17.6471 GPD2 0 genome.wustl.edu 37 2 157370007 157370007 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 157370007 157370007 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.660 p.D220 0.762 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 80 0 0 60 10 14.2857 COBLL1 0 genome.wustl.edu 37 2 165548759 165548759 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 165548759 165548759 G A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.3587 p.S1196L 1.000 pfscan_WH2_dom pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 82 0 0 40 8 16.6667 TTC21B 0 genome.wustl.edu 37 2 166767931 166767931 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 166767931 166767931 A G SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.2367 p.N789 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 104 0 0 73 10 12.0482 XIRP2 0 genome.wustl.edu 37 2 168104263 168104263 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 168104263 168104263 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6361 p.V2121I 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 112 0 0 58 10 14.7059 ABCB11 0 genome.wustl.edu 37 2 169826018 169826018 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 169826018 169826018 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.1853 p.S618F 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 55 0 0 25 3 10.7143 LRP2 0 genome.wustl.edu 37 2 170083054 170083054 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 170083054 170083054 C G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5272 p.G1758R 1.000 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 77 0 0 55 6 9.83607 TTN 0 genome.wustl.edu 37 2 179411492 179411492 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179411492 179411492 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86959 p.R28987C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 109 0 0 52 7 11.8644 TTN 0 genome.wustl.edu 37 2 179415859 179415859 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179415859 179415859 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83695 p.R27899C 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 66 0 0 28 7 20 TTN 0 genome.wustl.edu 37 2 179440722 179440722 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179440722 179440722 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.62433 p.T20811 0.998 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 219 0 0 116 22 15.942 TTN 0 genome.wustl.edu 37 2 179454276 179454276 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179454276 179454276 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.54472 p.T18158S 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 113 0 0 61 19 23.75 TTN 0 genome.wustl.edu 37 2 179481230 179481230 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179481230 179481230 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40584 p.E13528D 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 240 1 0.414938 121 21 14.7887 TTN 0 genome.wustl.edu 37 2 179592042 179592042 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179592042 179592042 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16318 p.S5440P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,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 75 0 0 24 7 22.5806 TTN 0 genome.wustl.edu 37 2 179596518 179596518 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179596518 179596518 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13352 p.Q4451R 1.000 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 202 0 0 87 21 19.4444 ZNF804A 0 genome.wustl.edu 37 2 185800571 185800571 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 185800571 185800571 G T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known nonsense c.448 p.E150* 0.964 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 124 0 0 52 13 20 ANKAR 0 genome.wustl.edu 37 2 190602494 190602494 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 190602494 190602494 T C SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.3509 p.I1170T 0.753 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 55 0 0 30 7 18.9189 HECW2 0 genome.wustl.edu 37 2 197157452 197157452 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 197157452 197157452 T C SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2837 p.N946S 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 55 0 0 24 5 17.2414 SGOL2 0 genome.wustl.edu 37 2 201435831 201435831 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 201435831 201435831 C T SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known silent c.762 p.N254 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 139 0 0 68 4 5.55556 MAP2 0 genome.wustl.edu 37 2 210559927 210559927 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 210559927 210559927 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.3033 p.S1011 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 153 0 0 66 16 19.5122 MAP2 0 genome.wustl.edu 37 2 210560961 210560961 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 210560961 210560961 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4067 p.R1356I 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 242 1 0.411523 75 11 12.7907 ERBB4 0 genome.wustl.edu 37 2 212578277 212578277 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 212578277 212578277 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.980 p.T327I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 51 0 0 31 3 8.82353 BARD1 0 genome.wustl.edu 37 2 215593476 215593476 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 215593476 215593476 C T SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.2258 p.G753D 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 85 0 0 36 5 12.1951 ABCA12 0 genome.wustl.edu 37 2 215896544 215896544 + Splice_Site SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 215896544 215896544 C G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known splice_site c.1061+1 e9+1 1.000 - - - no_errors ABCA12 HGNC ENSG00000144452 185 0 0 68 15 18.0723 C2orf62 0 genome.wustl.edu 37 2 219222808 219222808 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 219222808 219222808 T C SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known missense c.368 p.F123S 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 124 0 0 53 9 14.5161 PLCD4 0 genome.wustl.edu 37 2 219480484 219480484 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 219480484 219480484 C T SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known nonsense c.22 p.Q8* 1.000 NULL 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_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_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 PLCD4 HGNC ENSG00000115556 97 0 0 33 7 17.5 ZNF142 0 genome.wustl.edu 37 2 219509363 219509363 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 219509363 219509363 C A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.1876 p.D626Y 0.415 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 97 0 0 44 4 8.33333 TMEM198 0 genome.wustl.edu 37 2 220412635 220412635 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 220412635 220412635 G A SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known missense c.574 p.A192T 1.000 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 27 0 0 11 3 21.4286 PAX3 0 genome.wustl.edu 37 2 223086046 223086046 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 223086046 223086046 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.853 p.A285T 1.000 superfamily_Homeodomain-like pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 284 0 0 132 30 18.5185 SGPP2 0 genome.wustl.edu 37 2 223339343 223339343 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 223339343 223339343 T G SNP SGPP2 ENST00000321276 human ensembl 74_37 +1 known missense c.276 p.F92L 0.999 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC ENSG00000163082 138 0 0 85 17 16.6667 COL6A3 0 genome.wustl.edu 37 2 238280823 238280823 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 238280823 238280823 G C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3837 p.D1279E 1.000 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 68 0 0 17 10 37.037 NCOA1 0 genome.wustl.edu 37 2 24928069 24928069 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 24928069 24928069 A C SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.1064 p.Q355P 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 193 0 0 83 19 18.6275 CIB4 0 genome.wustl.edu 37 2 26864136 26864136 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 26864136 26864136 T A SNP CIB4 ENST00000288861 human ensembl 74_37 -1 known missense c.47 p.E16V 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB4 HGNC ENSG00000157884 246 0 0 122 28 18.6667 COLEC11 0 genome.wustl.edu 37 2 3691583 3691583 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 3691583 3691583 G A SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.733 p.G245S 0.999 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 174 0 0 65 5 7.14286 CDKL4 0 genome.wustl.edu 37 2 39411785 39411785 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 39411785 39411785 T C SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.739 p.T247A 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 CDKL4 HGNC ENSG00000205111 31 0 0 24 4 14.2857 TSPYL6 0 genome.wustl.edu 37 2 54483113 54483113 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 54483113 54483113 A G SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.176 p.V59A 0.001 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 162 0 0 60 13 17.8082 ANKRD53 0 genome.wustl.edu 37 2 71209753 71209753 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 71209753 71209753 C T SNP ANKRD53 ENST00000272421 human ensembl 74_37 +1 known missense c.829 p.R277C 0.000 superfamily_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 ANKRD53 HGNC ENSG00000144031 144 0 0 54 14 20.5882 DQX1 0 genome.wustl.edu 37 2 74746867 74746867 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 74746867 74746867 G C SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.1622 p.A541G 0.956 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 89 0 0 52 12 18.75 LRRTM4 0 genome.wustl.edu 37 2 77746530 77746530 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 77746530 77746530 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.468 p.G156 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 81 0 0 46 10 17.8571 REG1B 0 genome.wustl.edu 37 2 79312400 79312400 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 79312400 79312400 T G SNP REG1B ENST00000305089 human ensembl 74_37 -1 known missense c.443 p.K148T 0.052 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 44 0 0 28 7 20 EIF2AK3 0 genome.wustl.edu 37 2 88879049 88879049 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 88879049 88879049 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1873 p.R625C 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,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 152 0 0 70 4 5.40541 ADAM17 0 genome.wustl.edu 37 2 9666322 9666322 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 9666322 9666322 G A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.671 p.T224M 1.000 pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 223 0 0 91 23 20.1754 NEURL3 0 genome.wustl.edu 37 2 97166255 97166255 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 97166255 97166255 C T SNP NEURL3 ENST00000310865 human ensembl 74_37 -1 known rna NULL NULL 0.982 - - - no_errors NEURL3 HGNC ENSG00000163121 16 0 0 5 3 37.5 SEC23B 0 genome.wustl.edu 37 20 18511371 18511371 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 18511371 18511371 A G SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1157 p.Q386R 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 124 0 0 57 12 17.3913 NINL 0 genome.wustl.edu 37 20 25457060 25457060 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 25457060 25457060 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.2867 p.R956Q 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 66 0 0 26 11 29.7297 TM9SF4 0 genome.wustl.edu 37 20 30720904 30720904 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 30720904 30720904 A G SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.104 p.H35R 1.000 NULL pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 88 0 0 38 3 7.31707 ASXL1 0 genome.wustl.edu 37 20 31022374 31022374 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 31022374 31022374 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1859 p.R620H 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 69 0 0 35 3 7.89474 SLC4A11 0 genome.wustl.edu 37 20 3209270 3209270 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 3209270 3209270 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.2405 p.P802L 1.000 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 130 0 0 51 7 12.069 FAM83D 0 genome.wustl.edu 37 20 37580587 37580587 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 37580587 37580587 G A SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known silent c.1272 p.E424 0.566 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 90 0 0 57 6 9.52381 PTPRT 0 genome.wustl.edu 37 20 41306787 41306787 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 41306787 41306787 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.872 p.P291H 1.000 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 42 0 0 30 5 14.2857 MYBL2 0 genome.wustl.edu 37 20 42343837 42343837 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 42343837 42343837 T C SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.1888 p.L630 0.986 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 516 0 0 257 35 11.9863 RIMS4 0 genome.wustl.edu 37 20 43385563 43385563 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 43385563 43385563 C G SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known missense c.570 p.E190D 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 - no_errors RIMS4 HGNC ENSG00000101098 468 0 0 247 52 17.3913 MATN4 0 genome.wustl.edu 37 20 43932985 43932985 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 43932985 43932985 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.526 p.A176T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 79 0 0 40 4 9.09091 PIGT 0 genome.wustl.edu 37 20 44047544 44047544 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 44047544 44047544 G A SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.418 p.A140T 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 188 0 0 100 21 17.3554 ZSWIM1 0 genome.wustl.edu 37 20 44511929 44511929 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 44511929 44511929 G C SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.698 p.W233S 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 94 0 0 75 14 15.7303 SULF2 0 genome.wustl.edu 37 20 46365657 46365657 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 46365657 46365657 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.205 p.R69C 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 131 0 0 53 7 11.6667 CASS4 0 genome.wustl.edu 37 20 55027385 55027385 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 55027385 55027385 T C SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1153 p.S385P 0.001 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 90 0 0 53 9 14.5161 TFAP2C 0 genome.wustl.edu 37 20 55211736 55211736 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 55211736 55211736 A G SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known silent c.993 p.A331 0.059 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 114 0 0 63 14 18.1818 NELFCD 0 genome.wustl.edu 37 20 57568778 57568778 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 57568778 57568778 C T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known silent c.1594 p.L532 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 170 0 0 117 9 7.14286 ZNF831 0 genome.wustl.edu 37 20 57766555 57766555 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 57766555 57766555 A C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.481 p.K161Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 296 0 0 126 18 12.5 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase 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 128 0 0 40 28 41.1765 SS18L1 0 genome.wustl.edu 37 20 60733969 60733969 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 60733969 60733969 G C SNP SS18L1 ENST00000370848 human ensembl 74_37 +1 known missense c.126 p.Q42H 0.009 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 291 0 0 121 34 21.9355 PRPF6 0 genome.wustl.edu 37 20 62657362 62657362 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 62657362 62657362 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1979 p.R660Q 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 278 0 0 169 25 12.8866 SAMSN1 0 genome.wustl.edu 37 21 15870763 15870763 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 15870763 15870763 T G SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.919 p.I307L 1.000 superfamily_SAM/pointed pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 55 0 0 42 12 22.2222 TMPRSS15 0 genome.wustl.edu 37 21 19666644 19666644 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 19666644 19666644 C A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2429 p.C810F 0.999 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 214 0 0 49 19 27.9412 RWDD2B 0 genome.wustl.edu 37 21 30380401 30380401 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 30380401 30380401 C A SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.406 p.D136Y 1.000 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 68 0 0 34 11 24.4444 KRTAP24-1 0 genome.wustl.edu 37 21 31654507 31654507 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 31654507 31654507 G A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.744 p.S248 0.957 NULL pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 142 0 0 62 5 7.46269 TIAM1 0 genome.wustl.edu 37 21 32492734 32492734 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 32492734 32492734 A G SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.4728 p.V1576 0.309 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,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 TIAM1 HGNC ENSG00000156299 75 0 0 21 7 25 PTTG1IP 0 genome.wustl.edu 37 21 46271452 46271452 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 21 46271452 46271452 C T SNP PTTG1IP ENST00000445724 human ensembl 74_37 -1 known missense c.259 p.A87T 0.000 NULL NULL - no_errors PTTG1IP HGNC ENSG00000183255 144 0 0 55 4 6.77966 DGCR2 0 genome.wustl.edu 37 22 19029346 19029346 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 19029346 19029346 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.1133 p.R378H 1.000 NULL 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 106 0 0 37 8 17.7778 HIRA 0 genome.wustl.edu 37 22 19363188 19363188 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 19363188 19363188 C A SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.1741 p.A581S 0.368 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 122 0 0 52 7 11.8644 TBX1 0 genome.wustl.edu 37 22 19766785 19766785 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 19766785 19766785 C A SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known missense c.1052 p.S351Y 0.005 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 105 0 0 34 10 22.7273 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 20130522 20130522 C G SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1369 p.P457A 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 41 0 0 19 8 29.6296 RTN4R 0 genome.wustl.edu 37 22 20230373 20230373 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 20230373 20230373 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known nonsense c.283 p.R95* 0.721 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 75 0 0 29 4 12.1212 P2RX6 0 genome.wustl.edu 37 22 21377428 21377428 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 21377428 21377428 C A SNP P2RX6 ENST00000413302 human ensembl 74_37 +1 known silent c.579 p.A193 0.005 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 167 0 0 74 15 16.8539 CCDC116 0 genome.wustl.edu 37 22 21988490 21988490 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 21988490 21988490 C A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.252 p.D84E 0.941 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 194 0 0 51 12 19.0476 ZNF280B 0 genome.wustl.edu 37 22 22843016 22843016 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 22843016 22843016 T C SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known silent c.708 p.P236 0.021 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 133 0 0 85 19 18.2692 ENSG00000211683 0 genome.wustl.edu 37 22 23981009 23981009 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 23981009 23981009 G A SNP ENSG00000211683 ENST00000390329 human ensembl 74_37 -1 known rna NULL NULL 0.480 - - - no_errors KB-1572G7.3 Clone_based_vega_gene ENSG00000211683 86 0 0 43 6 12.2449 GGT1 0 genome.wustl.edu 37 22 25024357 25024357 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 25024357 25024357 T C SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known splice_site c.1563+2 e11+2 1.000 - - - no_errors GGT1 HGNC ENSG00000100031 95 0 0 43 6 12.2449 CRYBB3 0 genome.wustl.edu 37 22 25603126 25603126 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 25603126 25603126 C T SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known missense c.583 p.R195C 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 CRYBB3 HGNC ENSG00000100053 90 0 0 39 8 17.0213 MN1 0 genome.wustl.edu 37 22 28193409 28193409 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 28193409 28193409 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.3123 p.V1041 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 154 0 0 42 8 16 OSM 0 genome.wustl.edu 37 22 30662777 30662777 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 30662777 30662777 C A SNP OSM ENST00000215781 human ensembl 74_37 -1 known silent c.12 p.L4 0.002 pfam_Leukemia_IF/oncostatin pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin - no_errors OSM HGNC ENSG00000099985 90 0 0 23 3 11.5385 HMOX1 0 genome.wustl.edu 37 22 35782986 35782986 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 35782986 35782986 C A SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known silent c.453 p.A151 0.010 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 107 0 0 69 5 6.75676 C1QTNF6 0 genome.wustl.edu 37 22 37578760 37578760 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 37578760 37578760 G C SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known missense c.305 p.P102R 0.853 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 25 0 0 15 5 25 LOC101927051 0 genome.wustl.edu 37 22 38038872 38038872 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 38038872 38038872 G A SNP LOC101927051 ENST00000456099 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors Z83844.1 Clone_based_vega_gene ENSG00000233360 118 0 0 43 9 17.3077 SOX10 0 genome.wustl.edu 37 22 38370125 38370125 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 38370125 38370125 C T SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.778 p.G260R 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 315 0 0 123 17 12.1429 FAM83F 0 genome.wustl.edu 37 22 40417839 40417839 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 40417839 40417839 T A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.1325 p.L442H 0.004 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 78 0 0 27 8 22.8571 PACSIN2 0 genome.wustl.edu 37 22 43280459 43280459 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 43280459 43280459 G A SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.718 p.R240C 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 176 0 0 66 11 14.2857 TTLL12 0 genome.wustl.edu 37 22 43569737 43569737 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 43569737 43569737 C T SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.1325 p.R442Q 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 92 0 0 27 3 10 SMC1B 0 genome.wustl.edu 37 22 45755702 45755702 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 45755702 45755702 C A SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.2845 p.D949Y 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_t-SNARE pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 133 0 0 43 17 28.3333 GTSE1 0 genome.wustl.edu 37 22 46704360 46704360 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 46704360 46704360 C T SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known silent c.282 p.A94 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 271 1 0.367647 71 18 20.2247 CELSR1 0 genome.wustl.edu 37 22 46931942 46931942 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 46931942 46931942 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.1126 p.R376C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR1 HGNC ENSG00000075275 63 0 0 21 6 22.2222 MOV10L1 0 genome.wustl.edu 37 22 50530569 50530569 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 50530569 50530569 A G SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known silent c.237 p.A79 0.000 superfamily_NA-bd_OB-fold superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 146 0 0 59 12 16.9014 TYMP 0 genome.wustl.edu 37 22 50967983 50967983 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 50967983 50967983 C T SNP TYMP ENST00000252029 human ensembl 74_37 -1 known silent c.156 p.A52 0.010 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 124 0 0 36 8 18.1818 PHLDB2 0 genome.wustl.edu 37 3 111632518 111632518 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 111632518 111632518 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1688 p.S563N 0.992 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 402 0 0 156 41 20.8122 NR1I2 0 genome.wustl.edu 37 3 119531555 119531555 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 119531555 119531555 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.659 p.G220D 0.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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 NR1I2 HGNC ENSG00000144852 235 0 0 108 10 8.47458 SEC22A 0 genome.wustl.edu 37 3 122928161 122928161 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 122928161 122928161 T C SNP SEC22A ENST00000309934 human ensembl 74_37 +1 known missense c.97 p.C33R 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22A HGNC ENSG00000121542 87 0 0 51 5 8.92857 RAF1 0 genome.wustl.edu 37 3 12641686 12641686 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 12641686 12641686 C T SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.1015 p.A339T 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 146 0 0 77 11 12.5 ATR 0 genome.wustl.edu 37 3 142259852 142259852 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 142259852 142259852 T A SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.3475 p.M1159L 1.000 pfam_UME,superfamily_ARM-type_fold,smart_UME pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 76 0 0 36 17 32.0755 CHST2 0 genome.wustl.edu 37 3 142840454 142840454 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 142840454 142840454 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.796 p.A266T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 29 0 0 14 5 26.3158 IGSF10 0 genome.wustl.edu 37 3 151160982 151160982 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 151160982 151160982 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5753 p.I1918T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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,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 190 0 0 101 41 28.8732 PLCH1 0 genome.wustl.edu 37 3 155271897 155271897 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 155271897 155271897 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.1122 p.E374 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom 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_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_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 PLCH1 HGNC ENSG00000114805 100 0 0 65 15 18.75 MFSD1 0 genome.wustl.edu 37 3 158545116 158545116 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 158545116 158545116 T C SNP MFSD1 ENST00000415822 human ensembl 74_37 +1 known missense c.1531 p.S511P 0.158 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD1 HGNC ENSG00000118855 87 0 0 59 22 27.1605 GHSR 0 genome.wustl.edu 37 3 172166108 172166108 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 172166108 172166108 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.96 p.D32 0.026 prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 55 0 0 27 3 10 NLGN1 0 genome.wustl.edu 37 3 173997321 173997321 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 173997321 173997321 C A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known silent c.1650 p.P550 0.901 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 71 0 0 59 8 11.9403 NLGN1 0 genome.wustl.edu 37 3 173998407 173998407 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 173998407 173998407 G C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1906 p.E636Q 1.000 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 161 0 0 108 20 15.625 EPHB3 0 genome.wustl.edu 37 3 184295229 184295229 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 184295229 184295229 G T SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.1453 p.D485Y 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,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 EPHB3 HGNC ENSG00000182580 165 0 0 78 14 15.2174 OPA1 0 genome.wustl.edu 37 3 193335014 193335014 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 193335014 193335014 G C SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.496 p.A166P 0.705 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 117 0 0 39 13 25 LINC00969 0 genome.wustl.edu 37 3 195390680 195390680 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 195390680 195390680 C T SNP LINC00969 ENST00000452844 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00969 HGNC ENSG00000242086 32 0 0 18 3 14.2857 SUSD5 0 genome.wustl.edu 37 3 33194483 33194483 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 33194483 33194483 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known silent c.1641 p.P547 0.000 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 32 0 0 26 10 27.7778 LRRC2 0 genome.wustl.edu 37 3 46586647 46586647 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 46586647 46586647 C T SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known silent c.222 p.R74 0.509 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 252 0 0 119 32 21.1921 CELSR3 0 genome.wustl.edu 37 3 48691836 48691836 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 48691836 48691836 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.5038 p.P1680S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 72 0 0 22 9 29.0323 CELSR3 0 genome.wustl.edu 37 3 48696932 48696932 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 48696932 48696932 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3136 p.P1046T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 277 1 0.359712 129 31 19.375 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 171 0 0 53 22 29.3333 RNF123 0 genome.wustl.edu 37 3 49740928 49740928 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 49740928 49740928 G T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1819 p.G607C 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 60 0 0 26 3 10.3448 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 198 1 0.502513 50 44 46.8085 GRM2 0 genome.wustl.edu 37 3 51749114 51749114 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 51749114 51749114 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_2 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 119 0 0 31 8 20.5128 PARP3 0 genome.wustl.edu 37 3 51981822 51981822 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 51981822 51981822 G C SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.1364 p.R455T 0.995 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 301 0 0 102 14 12.069 PCBP4 0 genome.wustl.edu 37 3 51992870 51992870 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 51992870 51992870 G A SNP PCBP4 ENST00000395014 human ensembl 74_37 -1 known missense c.922 p.R308W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 185 0 0 71 12 14.4578 NT5DC2 0 genome.wustl.edu 37 3 52562296 52562296 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 52562296 52562296 A T SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.674 p.F225Y 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 100 0 0 63 10 13.6986 CNTN3 0 genome.wustl.edu 37 3 74349051 74349051 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 74349051 74349051 C T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2134 p.G712R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN3 HGNC ENSG00000113805 88 0 0 40 7 14.8936 SRGAP3 0 genome.wustl.edu 37 3 9027389 9027389 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 9027389 9027389 G A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known silent c.3114 p.T1038 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 82 0 0 24 10 29.4118 SRGAP3 0 genome.wustl.edu 37 3 9074409 9074409 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 9074409 9074409 C A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.1464 p.Q488H 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 129 0 0 48 18 27.2727 LHFPL4 0 genome.wustl.edu 37 3 9594221 9594221 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 9594221 9594221 C T SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known missense c.143 p.G48D 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 89 0 0 24 5 17.2414 TADA3 0 genome.wustl.edu 37 3 9831526 9831526 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 9831526 9831526 G C SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.329 p.A110G 0.992 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 124 0 0 85 17 16.6667 CRELD1 0 genome.wustl.edu 37 3 9982881 9982881 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 9982881 9982881 A G SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.724 p.K242E 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom 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 CRELD1 HGNC ENSG00000163703 95 0 0 48 9 15.7895 CMSS1 0 genome.wustl.edu 37 3 99895194 99895194 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 99895194 99895194 A G SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.691 p.K231E 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 75 0 0 38 7 15.5556 TET2 0 genome.wustl.edu 37 4 106155934 106155934 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 106155934 106155934 A C SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.835 p.T279P 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 55 0 0 28 4 12.5 INTS12 0 genome.wustl.edu 37 4 106616707 106616707 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 106616707 106616707 A C SNP INTS12 ENST00000340139 human ensembl 74_37 -1 known missense c.275 p.V92G 0.039 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 124 0 0 48 15 23.8095 INTU 0 genome.wustl.edu 37 4 128564847 128564847 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 128564847 128564847 G A SNP INTU ENST00000335251 human ensembl 74_37 +1 known silent c.318 p.K106 0.105 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 186 0 0 75 21 21.875 PCDH18 0 genome.wustl.edu 37 4 138451552 138451552 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 138451552 138451552 A C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1691 p.L564R 1.000 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 PCDH18 HGNC ENSG00000189184 260 0 0 149 39 20.7447 ZNF827 0 genome.wustl.edu 37 4 146697023 146697023 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 146697023 146697023 G C SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.2611 p.L871V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 150 0 0 48 5 9.43396 LRBA 0 genome.wustl.edu 37 4 151849711 151849711 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 151849711 151849711 A T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.506 p.L169Q 0.995 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 - no_errors LRBA HGNC ENSG00000198589 59 0 0 23 5 17.8571 FHDC1 0 genome.wustl.edu 37 4 153896551 153896551 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 153896551 153896551 C T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.2108 p.P703L 0.007 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 107 0 0 37 9 19.5652 TRIM2 0 genome.wustl.edu 37 4 154191516 154191516 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 154191516 154191516 C A SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known silent c.60 p.G20 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 212 0 0 70 12 14.6341 PLRG1 0 genome.wustl.edu 37 4 155461762 155461762 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 155461762 155461762 C T SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.923 p.R308Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 PLRG1 HGNC ENSG00000171566 97 0 0 51 5 8.92857 FGG 0 genome.wustl.edu 37 4 155533225 155533225 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 155533225 155533225 T G SNP FGG ENST00000336098 human ensembl 74_37 -1 known missense c.252 p.K84N 0.291 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 68 0 0 36 3 7.69231 ASIC5 0 genome.wustl.edu 37 4 156775402 156775402 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 156775402 156775402 C A SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.412 p.V138F 0.994 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 123 0 0 59 10 14.4928 TDO2 0 genome.wustl.edu 37 4 156825181 156825181 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 156825181 156825181 A C SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.47 p.K16T 0.012 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 115 0 0 26 5 16.129 FAM198B 0 genome.wustl.edu 37 4 159092149 159092149 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 159092149 159092149 G A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.379 p.P127S 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 171 0 0 69 26 27.3684 TLL1 0 genome.wustl.edu 37 4 166915670 166915670 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 166915670 166915670 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.499 p.G167R 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,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,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 76 0 0 50 11 18.0328 DHX15 0 genome.wustl.edu 37 4 24529428 24529428 + RNA SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 24529428 24529428 T A SNP DHX15 ENST00000504279 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DHX15 HGNC ENSG00000109606 14 0 0 10 2 16.6667 DHX15 0 genome.wustl.edu 37 4 24529429 24529429 + RNA SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 24529429 24529429 T A SNP DHX15 ENST00000504279 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DHX15 HGNC ENSG00000109606 14 0 0 11 2 15.3846 CCDC149 0 genome.wustl.edu 37 4 24838869 24838869 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 24838869 24838869 C T SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known missense c.643 p.A215T 1.000 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 66 0 0 29 4 12.1212 FAM193A 0 genome.wustl.edu 37 4 2696824 2696824 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 2696824 2696824 T A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2371 p.C791S 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 66 0 0 21 5 19.2308 PGM2 0 genome.wustl.edu 37 4 37848854 37848854 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 37848854 37848854 A G SNP PGM2 ENST00000381967 human ensembl 74_37 +1 known missense c.1220 p.N407S 1.000 pfam_A-D-PHexomutase_a/b/a-III,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-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 112 0 0 57 11 16.1765 LIAS 0 genome.wustl.edu 37 4 39465194 39465194 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 39465194 39465194 G A SNP LIAS ENST00000261434 human ensembl 74_37 +1 known missense c.362 p.G121E 1.000 pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 49 0 0 29 3 9.375 GUF1 0 genome.wustl.edu 37 4 44684428 44684428 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 44684428 44684428 G T SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known missense c.585 p.K195N 1.000 pfam_EF_GTP-bd_dom,pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 115 0 0 72 15 17.2414 GABRA4 0 genome.wustl.edu 37 4 46967014 46967014 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 46967014 46967014 T C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.1107 p.R369 0.863 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa4_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 142 0 0 66 9 12 OCIAD1 0 genome.wustl.edu 37 4 48852083 48852083 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 48852083 48852083 C T SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known nonsense c.361 p.R121* 0.096 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 125 0 0 63 14 18.1818 LRRC66 0 genome.wustl.edu 37 4 52862042 52862042 + Silent SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 52862042 52862042 T G SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.1146 p.S382 0.078 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 74 0 0 34 10 22.7273 KIT 0 genome.wustl.edu 37 4 55594223 55594223 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 55594223 55594223 A C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1926 p.K642N 0.998 pirsf_Tyr_kinase_CSF1/PDGF_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_CSF1/PDGF_rcpt,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,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 150 0 0 59 8 11.9403 KDR 0 genome.wustl.edu 37 4 55958806 55958806 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 55958806 55958806 A T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.3047 p.M1016K 1.000 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_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 105 0 0 49 5 9.25926 CLOCK 0 genome.wustl.edu 37 4 56345861 56345861 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 56345861 56345861 T G SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known missense c.53 p.D18A 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 94 0 0 45 11 19.6429 TMPRSS11D 0 genome.wustl.edu 37 4 68693133 68693133 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 68693133 68693133 A G SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known silent c.798 p.S266 0.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 75 0 0 51 9 15 SYT14L 0 genome.wustl.edu 37 4 68928301 68928301 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 68928301 68928301 G A SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 245 0 0 100 17 14.5299 TMPRSS11F 0 genome.wustl.edu 37 4 68930432 68930432 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 68930432 68930432 A G SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.986 p.V329A 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 132 0 0 78 8 9.30233 RASSF6 0 genome.wustl.edu 37 4 74453644 74453644 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 74453644 74453644 G A SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known missense c.391 p.R131C 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 112 0 0 83 6 6.74157 SCD5 0 genome.wustl.edu 37 4 83719567 83719567 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 83719567 83719567 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known missense c.124 p.R42W 0.981 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 94 0 0 22 4 15.3846 SEC31A 0 genome.wustl.edu 37 4 83783724 83783724 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 83783724 83783724 A G SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.1511 p.I504T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 61 0 0 49 6 10.9091 LIN54 0 genome.wustl.edu 37 4 83906010 83906010 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 83906010 83906010 G A SNP LIN54 ENST00000509748 human ensembl 74_37 -1 putative rna NULL NULL 0.008 - - - no_errors LIN54 HGNC ENSG00000189308 135 0 0 98 20 16.9492 WDFY3 0 genome.wustl.edu 37 4 85781643 85781643 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 85781643 85781643 C G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.102 p.E34D 0.994 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 114 0 0 74 18 19.5652 PDHA2 0 genome.wustl.edu 37 4 96761335 96761335 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 96761335 96761335 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known nonsense c.34 p.R12* 0.001 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 68 0 0 39 4 9.30233 CHSY3 0 genome.wustl.edu 37 5 129520970 129520970 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 129520970 129520970 C T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2135 p.T712I 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 189 0 0 65 13 16.6667 LEAP2 0 genome.wustl.edu 37 5 132210178 132210178 + RNA SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 132210178 132210178 A T SNP LEAP2 ENST00000485457 human ensembl 74_37 +1 known rna NULL NULL 0.946 - - - no_errors LEAP2 HGNC ENSG00000164406 46 0 0 14 8 36.3636 TGFBI 0 genome.wustl.edu 37 5 135383090 135383090 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 135383090 135383090 A G SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.752 p.D251G 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 432 0 0 199 13 6.13208 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 220 0 0 54 53 49.5327 DNAH5 0 genome.wustl.edu 37 5 13752383 13752383 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 13752383 13752383 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10888 p.H3630D 1.000 NULL 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 DNAH5 HGNC ENSG00000039139 117 1 0.847458 97 15 13.3929 EGR1 0 genome.wustl.edu 37 5 137802687 137802687 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 137802687 137802687 C T SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known silent c.549 p.S183 0.093 pfam_DUF3446 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 359 0 0 135 31 18.6747 DNAH5 0 genome.wustl.edu 37 5 13845022 13845022 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 13845022 13845022 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5195 p.A1732V 1.000 pfam_Dynein_heavy_dom-2 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 DNAH5 HGNC ENSG00000039139 168 0 0 108 15 12.1951 DNAH5 0 genome.wustl.edu 37 5 13919307 13919307 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 13919307 13919307 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.953 p.A318V 0.943 pfam_Dynein_heavy_dom-1 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 DNAH5 HGNC ENSG00000039139 227 0 0 97 6 5.82524 PCDHA12 0 genome.wustl.edu 37 5 140256667 140256667 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140256667 140256667 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1610 p.A537V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 296 0 0 104 27 20.6107 PCDHAC1 0 genome.wustl.edu 37 5 140307999 140307999 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140307999 140307999 A G SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1522 p.T508A 0.682 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 174 0 0 81 19 19 PCDHB1 0 genome.wustl.edu 37 5 140433387 140433387 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140433387 140433387 T A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.2332 p.F778I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 180 0 0 67 47 41.2281 PCDHB2 0 genome.wustl.edu 37 5 140475706 140475706 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140475706 140475706 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1332 p.S444 0.993 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 438 1 0.22779 178 26 12.7451 PCDHB2 0 genome.wustl.edu 37 5 140475743 140475743 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140475743 140475743 T C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1369 p.S457P 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 402 1 0.248139 172 28 14 PCDHB6 0 genome.wustl.edu 37 5 140531705 140531705 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140531705 140531705 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1867 p.R623C 1.000 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 PCDHB6 HGNC ENSG00000113211 111 0 0 55 12 17.9104 PCDHB8 0 genome.wustl.edu 37 5 140559252 140559252 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140559252 140559252 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1637 p.A546V 0.953 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 PCDHB8 HGNC ENSG00000120322 149 0 0 61 10 14.0845 PCDHB13 0 genome.wustl.edu 37 5 140594824 140594824 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140594824 140594824 G T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known nonsense c.1129 p.G377* 0.582 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 PCDHB13 HGNC ENSG00000187372 263 0 0 151 17 10.119 PCDHB15 0 genome.wustl.edu 37 5 140625761 140625761 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140625761 140625761 G T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.615 p.Q205H 0.991 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 PCDHB15 HGNC ENSG00000113248 77 0 0 42 8 16 PCDHGB3 0 genome.wustl.edu 37 5 140751508 140751508 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140751508 140751508 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1547 p.A516V 0.942 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 PCDHGB3 HGNC ENSG00000262209 134 0 0 57 7 10.9375 PCDHGA6 0 genome.wustl.edu 37 5 140754789 140754789 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140754789 140754789 G C SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1139 p.G380A 1.000 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 PCDHGA6 HGNC ENSG00000253731 135 0 0 61 21 25.6098 PCDHGA8 0 genome.wustl.edu 37 5 140772926 140772926 + Silent SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140772926 140772926 G T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.546 p.V182 0.017 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 PCDHGA8 HGNC ENSG00000253767 127 0 0 58 8 12.1212 PCDHGB7 0 genome.wustl.edu 37 5 140798806 140798806 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140798806 140798806 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1380 p.H460 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 167 0 0 50 14 21.875 DIAPH1 0 genome.wustl.edu 37 5 140906001 140906001 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140906001 140906001 A G SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3304 p.Y1102H 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 135 0 0 44 14 24.1379 DIAPH1 0 genome.wustl.edu 37 5 140908386 140908386 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 140908386 140908386 T G SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.2904 p.L968F 0.907 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 114 0 0 47 14 22.9508 PCDH12 0 genome.wustl.edu 37 5 141329002 141329002 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 141329002 141329002 C T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.3125 p.S1042N 0.199 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 359 0 0 142 35 19.774 TRIO 0 genome.wustl.edu 37 5 14369554 14369554 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 14369554 14369554 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.3138 p.K1046N 0.997 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 85 0 0 62 9 12.6761 HTR4 0 genome.wustl.edu 37 5 147889351 147889351 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 147889351 147889351 A G SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known silent c.744 p.T248 0.940 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 87 0 0 39 6 13.3333 SH3TC2 0 genome.wustl.edu 37 5 148406607 148406607 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 148406607 148406607 T G SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.2688 p.R896S 0.007 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 240 0 0 120 29 19.4631 NDST1 0 genome.wustl.edu 37 5 149933039 149933039 + RNA SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 149933039 149933039 G T SNP NDST1 ENST00000521752 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors NDST1 HGNC ENSG00000070614 51 0 0 30 5 14.2857 TENM2 0 genome.wustl.edu 37 5 167489185 167489185 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 167489185 167489185 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1430 p.Q477R 1.000 NULL 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 120 0 0 61 22 26.506 DOCK2 0 genome.wustl.edu 37 5 169461447 169461447 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 169461447 169461447 T G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3512 p.V1171G 0.999 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 136 0 0 45 10 18.1818 DOCK2 0 genome.wustl.edu 37 5 169506041 169506041 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 169506041 169506041 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5057 p.P1686L 0.053 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 177 0 0 76 18 19.1489 NKX2-5 0 genome.wustl.edu 37 5 172660043 172660043 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 172660043 172660043 G A SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known silent c.504 p.R168 0.997 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 25 0 0 7 3 30 OR2V1 0 genome.wustl.edu 37 5 180551633 180551633 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 180551633 180551633 C G SNP OR2V1 ENST00000329365 human ensembl 74_37 -1 known silent c.672 p.G224 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V1 HGNC ENSG00000185372 83 0 0 22 11 33.3333 PRDM9 0 genome.wustl.edu 37 5 23524462 23524462 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 23524462 23524462 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.970 p.D324N 0.659 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 98 0 0 67 10 12.987 RAD1 0 genome.wustl.edu 37 5 34914837 34914837 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 34914837 34914837 T C SNP RAD1 ENST00000341754 human ensembl 74_37 -1 known missense c.161 p.E54G 1.000 pfam_Rad1_Rec1_Rad17,prints_Rad1_Rec1_Rad17,prints_Cell_cycle_checkpoint_Rad1 pfam_Rad1_Rec1_Rad17,prints_Rad1_Rec1_Rad17,prints_Cell_cycle_checkpoint_Rad1 - no_errors RAD1 HGNC ENSG00000113456 147 0 0 83 17 17 SPEF2 0 genome.wustl.edu 37 5 35700701 35700701 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 35700701 35700701 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2245 p.T749A 0.000 pfam_Adenylate_kin,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 105 0 0 45 5 10 IL6ST 0 genome.wustl.edu 37 5 55260015 55260015 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 55260015 55260015 T G SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.617 p.K206T 0.951 pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 142 0 0 66 5 7.04225 ANKRD55 0 genome.wustl.edu 37 5 55407146 55407146 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 55407146 55407146 G A SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known nonsense c.1429 p.Q477* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 252 1 0.395257 132 24 15.3846 RNF180 0 genome.wustl.edu 37 5 63510031 63510031 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 63510031 63510031 A G SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known missense c.878 p.Q293R 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 130 0 0 79 8 9.1954 SREK1 0 genome.wustl.edu 37 5 65466589 65466589 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 65466589 65466589 G C SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.1298 p.R433T 0.668 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 33 0 0 13 2 13.3333 SRD5A1 0 genome.wustl.edu 37 5 6633932 6633932 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 6633932 6633932 C G SNP SRD5A1 ENST00000274192 human ensembl 74_37 +1 known missense c.243 p.S81R 0.005 pirsf_3-oxo-5-alpha-steroid_4-DH pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 108 0 0 45 7 13.4615 PAPD7 0 genome.wustl.edu 37 5 6753132 6753132 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 6753132 6753132 C T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known silent c.1416 p.S472 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 200 0 0 103 13 11.2069 IQGAP2 0 genome.wustl.edu 37 5 75886244 75886244 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 75886244 75886244 G T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.652 p.V218F 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 173 0 0 62 8 11.4286 ENSG00000250320 0 genome.wustl.edu 37 5 83680326 83680326 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 83680326 83680326 C T SNP ENSG00000250320 ENST00000509406 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors CTD-2269F5.1 Clone_based_vega_gene ENSG00000250320 9 0 0 7 4 36.3636 TRIP13 0 genome.wustl.edu 37 5 914598 914598 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 914598 914598 C T SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known missense c.1039 p.R347C 0.925 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 304 0 0 182 26 12.5 RHOBTB3 0 genome.wustl.edu 37 5 95119546 95119546 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 95119546 95119546 A G SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known missense c.1502 p.Y501C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 292 0 0 124 25 16.7785 SIM1 0 genome.wustl.edu 37 6 100838323 100838323 + Missense_Mutation SNP A A T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 100838323 100838323 A T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.2215 p.F739I 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 272 0 0 77 14 15.3846 MICAL1 0 genome.wustl.edu 37 6 109770982 109770982 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 109770982 109770982 T G SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.1369 p.S457R 1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 153 0 0 43 10 18.8679 NEDD9 0 genome.wustl.edu 37 6 11190485 11190485 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 11190485 11190485 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.1617 p.P539 0.001 pfam_Serine_rich pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 230 0 0 109 22 16.7939 TBPL1 0 genome.wustl.edu 37 6 134305583 134305583 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 134305583 134305583 C A SNP TBPL1 ENST00000237264 human ensembl 74_37 +1 known missense c.352 p.P118T 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC ENSG00000028839 61 0 0 37 7 15.9091 PEX7 0 genome.wustl.edu 37 6 137187777 137187777 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 137187777 137187777 T C SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known missense c.539 p.L180P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 PEX7 HGNC ENSG00000112357 89 0 0 40 7 14.8936 SYNE1 0 genome.wustl.edu 37 6 152639292 152639292 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 152639292 152639292 T A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16496 p.K5499M 1.000 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 149 0 0 97 15 13.3929 IPCEF1 0 genome.wustl.edu 37 6 154489165 154489165 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 154489165 154489165 G A SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known nonsense c.994 p.R332* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 313 0 0 194 12 5.82524 JARID2 0 genome.wustl.edu 37 6 15501398 15501398 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 15501398 15501398 C A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2206 p.P736T 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 310 0 0 165 23 12.234 TFB1M 0 genome.wustl.edu 37 6 155632375 155632375 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 155632375 155632375 C T SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.232 p.V78I 0.986 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 139 0 0 69 15 17.8571 TULP4 0 genome.wustl.edu 37 6 158922885 158922885 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 158922885 158922885 T C SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2190 p.A730 0.001 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 289 0 0 147 24 14.0351 EZR 0 genome.wustl.edu 37 6 159204595 159204595 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 159204595 159204595 C G SNP EZR ENST00000337147 human ensembl 74_37 -1 known missense c.655 p.G219R 1.000 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 122 0 0 82 7 7.86517 WTAP 0 genome.wustl.edu 37 6 160164762 160164762 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 160164762 160164762 C T SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.211 p.R71C 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 72 0 0 46 7 13.2075 MAP3K4 0 genome.wustl.edu 37 6 161494549 161494549 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 161494549 161494549 T C SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2002 p.Y668H 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 MAP3K4 HGNC ENSG00000085511 91 0 0 49 8 14.0351 MAP3K4 0 genome.wustl.edu 37 6 161510388 161510388 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 161510388 161510388 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2858 p.A953V 0.154 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 MAP3K4 HGNC ENSG00000085511 243 1 0.409836 137 17 11.039 HIST1H2AH 0 genome.wustl.edu 37 6 27114929 27114929 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 27114929 27114929 G T SNP HIST1H2AH ENST00000377459 human ensembl 74_37 +1 known missense c.22 p.G8C 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 173 0 0 54 18 25 DDR1 0 genome.wustl.edu 37 6 30865334 30865334 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 30865334 30865334 G C SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.2194 p.A732P 0.000 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_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 88 0 0 29 5 14.7059 DPCR1 0 genome.wustl.edu 37 6 30919972 30919972 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 30919972 30919972 C A SNP DPCR1 ENST00000304311 human ensembl 74_37 +1 known missense c.257 p.P86H 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 176 0 0 81 16 16.4948 ABHD16A 0 genome.wustl.edu 37 6 31655315 31655315 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 31655315 31655315 T G SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known missense c.1553 p.D518A 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 308 0 0 113 24 17.5182 VARS 0 genome.wustl.edu 37 6 31750188 31750188 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 31750188 31750188 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2024 p.R675Q 1.000 pfam_aa-tRNA-synth_Ia,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 33 0 0 15 2 11.7647 TAP1 0 genome.wustl.edu 37 6 32821354 32821354 + Silent SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 32821354 32821354 G C SNP TAP1 ENST00000354258 human ensembl 74_37 -1 known silent c.240 p.L80 0.000 NULL 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_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 95 0 0 22 9 29.0323 MTCH1 0 genome.wustl.edu 37 6 36938383 36938383 + RNA SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 36938383 36938383 C T SNP MTCH1 ENST00000492754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTCH1 HGNC ENSG00000137409 84 0 0 28 4 12.5 MDGA1 0 genome.wustl.edu 37 6 37619916 37619916 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 37619916 37619916 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.1183 p.A395T 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 92 0 0 56 11 16.4179 PGC 0 genome.wustl.edu 37 6 41705491 41705491 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 41705491 41705491 G C SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.991 p.P331A 0.811 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 96 0 0 44 4 8.33333 TRERF1 0 genome.wustl.edu 37 6 42227283 42227283 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 42227283 42227283 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2123 p.R708H 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 101 0 0 29 16 35.5556 CUL7 0 genome.wustl.edu 37 6 43013029 43013029 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 43013029 43013029 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.3226 p.R1076W 0.986 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 114 0 0 56 6 9.67742 ABCC10 0 genome.wustl.edu 37 6 43415496 43415496 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 43415496 43415496 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.3780 p.P1260 0.035 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 334 0 0 237 36 13.1868 RUNX2 0 genome.wustl.edu 37 6 45296404 45296404 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 45296404 45296404 G A SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.145 p.A49T 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 134 0 0 56 8 12.5 PKHD1 0 genome.wustl.edu 37 6 51907739 51907739 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 51907739 51907739 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.3015 p.A1005 0.001 superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 148 0 0 96 19 16.5217 MCM3 0 genome.wustl.edu 37 6 52133966 52133966 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 52133966 52133966 G A SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.2021 p.A674V 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,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,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 152 1 0.653595 47 16 25.3968 EFHC1 0 genome.wustl.edu 37 6 52329713 52329713 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 52329713 52329713 C T SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known silent c.937 p.L313 1.000 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 98 0 0 48 6 11.1111 FAM83B 0 genome.wustl.edu 37 6 54805046 54805046 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 54805046 54805046 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.1277 p.A426V 0.002 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 120 0 0 63 17 21.25 COL21A1 0 genome.wustl.edu 37 6 56006611 56006611 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 56006611 56006611 T C SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.1514 p.K505R 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 108 0 0 47 10 17.5439 DST 0 genome.wustl.edu 37 6 56468205 56468205 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 56468205 56468205 C G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.10856 p.G3619A 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 71 0 0 35 5 12.5 RREB1 0 genome.wustl.edu 37 6 7226887 7226887 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 7226887 7226887 C G SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.895 p.Q299E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 128 0 0 109 8 6.83761 EEF1A1 0 genome.wustl.edu 37 6 74228300 74228300 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 74228300 74228300 G C SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known missense c.806 p.T269S 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 103 0 0 66 17 20.4819 SNRNP48 0 genome.wustl.edu 37 6 7601644 7601644 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 7601644 7601644 G A SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known missense c.482 p.R161H 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 124 0 0 109 7 6.03448 MDN1 0 genome.wustl.edu 37 6 90422432 90422432 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 90422432 90422432 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.7292 p.G2431D 0.992 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 120 0 0 64 7 9.85915 ZAN 0 genome.wustl.edu 37 7 100395212 100395212 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 100395212 100395212 G T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known nonsense c.8104 p.E2702* 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 73 0 0 39 4 9.30233 EPHB4 0 genome.wustl.edu 37 7 100417826 100417826 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 100417826 100417826 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.901 p.V301I 0.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,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 EPHB4 HGNC ENSG00000196411 291 0 0 124 17 12.0567 TRIP6 0 genome.wustl.edu 37 7 100469250 100469250 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 100469250 100469250 G C SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.1085 p.C362S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 126 0 0 53 13 19.697 MUC17 0 genome.wustl.edu 37 7 100677233 100677233 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 100677233 100677233 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2536 p.S846P 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 702 0 0 476 97 16.9284 CDHR3 0 genome.wustl.edu 37 7 105615467 105615467 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 105615467 105615467 A G SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.224 p.N75S 0.946 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 226 0 0 98 22 18.3333 PRKAR2B 0 genome.wustl.edu 37 7 106786831 106786831 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 106786831 106786831 C T SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known silent c.666 p.G222 0.026 pfam_cNMP-bd_dom,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 PRKAR2B HGNC ENSG00000005249 94 0 0 43 11 20.3704 GPER1 0 genome.wustl.edu 37 7 1131429 1131429 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 1131429 1131429 C T SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.65 p.A22V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 138 0 0 68 7 9.33333 GRM8 0 genome.wustl.edu 37 7 126746611 126746611 + Silent SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 126746611 126746611 A C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.666 p.A222 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 87 0 0 37 12 24.4898 UNCX 0 genome.wustl.edu 37 7 1273168 1273168 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 1273168 1273168 C A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.287 p.P96Q 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 36 0 0 20 5 20 LRRC4 0 genome.wustl.edu 37 7 127668913 127668913 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 127668913 127668913 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1781 p.G594E 1.000 NULL 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 59 0 0 32 4 11.1111 OPN1SW 0 genome.wustl.edu 37 7 128415195 128415195 + Silent SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 128415195 128415195 T G SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known silent c.366 p.G122 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 60 0 0 26 3 10.3448 ZC3HAV1 0 genome.wustl.edu 37 7 138732366 138732366 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 138732366 138732366 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.2683 p.E895K 0.498 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 170 0 0 78 19 19.5876 BRAF 0 genome.wustl.edu 37 7 140434413 140434413 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 140434413 140434413 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.2285 p.A762V 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 BRAF HGNC ENSG00000157764 548 0 0 326 32 8.93855 GIMAP4 0 genome.wustl.edu 37 7 150269275 150269275 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 150269275 150269275 C T SNP GIMAP4 ENST00000255945 human ensembl 74_37 +1 known silent c.117 p.T39 0.966 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP4 HGNC ENSG00000133574 105 1 0.943396 60 7 10.4478 GIMAP6 0 genome.wustl.edu 37 7 150325008 150325008 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 150325008 150325008 G A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known silent c.678 p.N226 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 292 0 0 173 35 16.8269 CDK5 0 genome.wustl.edu 37 7 150752874 150752874 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 150752874 150752874 C A SNP CDK5 ENST00000485972 human ensembl 74_37 -1 known missense c.374 p.R125M 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,prints_Ser-Thr/Tyr_kinase_cat_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 CDK5 HGNC ENSG00000164885 41 0 0 18 3 14.2857 SP8 0 genome.wustl.edu 37 7 20825340 20825340 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 20825340 20825340 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.96 p.P32 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 104 0 0 47 5 9.61538 STK31 0 genome.wustl.edu 37 7 23749937 23749937 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 23749937 23749937 C G SNP STK31 ENST00000355870 human ensembl 74_37 +1 known silent c.33 p.S11 0.001 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 121 0 0 33 10 23.2558 HOXA10 0 genome.wustl.edu 37 7 27213459 27213459 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 27213459 27213459 G C SNP HOXA10 ENST00000283921 human ensembl 74_37 -1 known missense c.467 p.S156W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA10 HGNC ENSG00000253293 37 0 0 16 3 15.7895 ELMO1 0 genome.wustl.edu 37 7 37264526 37264526 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 37264526 37264526 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.659 p.A220V 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 133 0 0 70 11 13.5802 AMPH 0 genome.wustl.edu 37 7 38424457 38424457 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 38424457 38424457 C A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.2050 p.G684C 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin_1,prints_SH3_domain pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 198 1 0.502513 96 13 11.9266 SDK1 0 genome.wustl.edu 37 7 4088996 4088996 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 4088996 4088996 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2619 p.P873 0.001 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 89 0 0 34 5 12.8205 GLI3 0 genome.wustl.edu 37 7 42005852 42005852 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 42005852 42005852 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2819 p.P940L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 54 0 0 24 5 17.2414 URGCP 0 genome.wustl.edu 37 7 43918566 43918566 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 43918566 43918566 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.496 p.A166T 0.028 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 108 0 0 59 12 16.9014 OGDH 0 genome.wustl.edu 37 7 44721400 44721400 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 44721400 44721400 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known missense c.1288 p.P430S 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 150 0 0 79 16 16.8421 GRB10 0 genome.wustl.edu 37 7 50742167 50742167 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 50742167 50742167 G A SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known nonsense c.328 p.Q110* 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 82 0 0 34 4 10.5263 COBL 0 genome.wustl.edu 37 7 51096633 51096633 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 51096633 51096633 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.2406 p.Y802 0.211 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 86 0 0 69 5 6.75676 POM121L12 0 genome.wustl.edu 37 7 53104122 53104122 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 53104122 53104122 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.758 p.P253H 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 126 0 0 52 12 18.75 TNRC18 0 genome.wustl.edu 37 7 5348924 5348924 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 5348924 5348924 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8464 p.G2822R 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 57 0 0 22 3 12 PHKG1 0 genome.wustl.edu 37 7 56149350 56149350 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 56149350 56149350 C T SNP PHKG1 ENST00000452681 human ensembl 74_37 -1 known silent c.987 p.R329 0.172 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma 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,prints_Phosph_kin_gamma - no_errors PHKG1 HGNC ENSG00000164776 94 0 0 35 5 12.5 ZNF479 0 genome.wustl.edu 37 7 57188753 57188753 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 57188753 57188753 T C SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known silent c.369 p.L123 0.001 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 ZNF479 HGNC ENSG00000185177 134 1 0.740741 105 16 13.2231 TYW1 0 genome.wustl.edu 37 7 66563632 66563632 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 66563632 66563632 T G SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.1489 p.F497V 0.993 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 94 0 0 56 10 15.1515 WBSCR17 0 genome.wustl.edu 37 7 70886093 70886093 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 70886093 70886093 T C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known splice_site c.962+2 e5+2 0.995 - - - no_errors WBSCR17 HGNC ENSG00000185274 51 0 0 44 4 8.33333 RSBN1L 0 genome.wustl.edu 37 7 77407902 77407902 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 77407902 77407902 G A SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known missense c.1958 p.R653H 1.000 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 163 0 0 101 21 17.2131 PCLO 0 genome.wustl.edu 37 7 82579563 82579563 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 82579563 82579563 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.10341 p.T3447 0.532 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 126 0 0 79 15 15.9574 PCLO 0 genome.wustl.edu 37 7 82585300 82585300 + Missense_Mutation SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 82585300 82585300 C G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4969 p.V1657L 0.044 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 166 0 0 102 25 19.685 ZNF804B 0 genome.wustl.edu 37 7 88963842 88963842 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 88963842 88963842 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1546 p.V516I 0.999 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 109 0 0 57 17 22.973 FZD1 0 genome.wustl.edu 37 7 90896031 90896031 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 90896031 90896031 C T SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known silent c.1836 p.I612 0.965 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 99 0 0 60 11 15.493 AKAP9 0 genome.wustl.edu 37 7 91622286 91622286 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 91622286 91622286 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.529 p.A177T 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 95 0 0 39 8 17.0213 CALCR 0 genome.wustl.edu 37 7 93055791 93055791 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 93055791 93055791 C A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.1404 p.E468D 0.030 prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 240 0 0 105 20 16 TRRAP 0 genome.wustl.edu 37 7 98609072 98609072 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 98609072 98609072 G T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known nonsense c.11209 p.E3737* 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_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 151 0 0 70 17 19.5402 LOC101927550 0 genome.wustl.edu 37 7 98645597 98645597 + RNA SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 98645597 98645597 T A SNP LOC101927550 ENST00000468960 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 50 0 0 33 4 10.8108 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99023071 99023071 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 99023071 99023071 G A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.1231 p.R411W 0.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 163 0 0 73 10 12.0482 VPS13B 0 genome.wustl.edu 37 8 100520118 100520118 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 100520118 100520118 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.4278 p.N1426 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 146 0 0 86 9 9.47368 VPS13B 0 genome.wustl.edu 37 8 100844880 100844880 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 100844880 100844880 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.9689 p.R3230M 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 81 0 0 38 5 11.6279 RGS22 0 genome.wustl.edu 37 8 101075945 101075945 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 101075945 101075945 C A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1051 p.V351L 0.054 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 74 0 0 51 12 19.0476 PKHD1L1 0 genome.wustl.edu 37 8 110456117 110456117 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 110456117 110456117 C A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.4777 p.P1593T 0.676 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 134 0 0 79 9 10.2273 PKHD1L1 0 genome.wustl.edu 37 8 110478991 110478991 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 110478991 110478991 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.8598 p.D2866 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 33 0 0 24 3 11.1111 CSMD3 0 genome.wustl.edu 37 8 113304872 113304872 + Silent SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 113304872 113304872 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.8682 p.N2894 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 131 0 0 94 13 12.1495 ADCY8 0 genome.wustl.edu 37 8 132051889 132051889 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 132051889 132051889 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.691 p.V231M 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 52 0 0 52 9 14.7541 PHF20L1 0 genome.wustl.edu 37 8 133849991 133849991 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 133849991 133849991 G T SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known missense c.287 p.C96F 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 86 0 0 47 10 17.5439 TG 0 genome.wustl.edu 37 8 133895150 133895150 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 133895150 133895150 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.981 p.A327 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 63 0 0 52 5 8.77193 GPR20 0 genome.wustl.edu 37 8 142367096 142367096 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 142367096 142367096 C A SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.928 p.G310C 0.479 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 94 0 0 50 6 10.7143 NAPRT1 0 genome.wustl.edu 37 8 144658646 144658646 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 144658646 144658646 C T SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known silent c.978 p.Q326 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 40 0 0 24 2 7.69231 CYHR1 0 genome.wustl.edu 37 8 145689685 145689685 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 145689685 145689685 G T SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known missense c.404 p.A135D 0.409 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 332 0 0 132 22 14.2857 MICU3 0 genome.wustl.edu 37 8 16962959 16962959 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 16962959 16962959 G C SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known missense c.1123 p.E375Q 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 21 0 0 23 3 11.5385 CSGALNACT1 0 genome.wustl.edu 37 8 19362795 19362795 + Missense_Mutation SNP A A C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 19362795 19362795 A C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.551 p.I184S 0.102 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 127 0 0 41 9 18 LPL 0 genome.wustl.edu 37 8 19809439 19809439 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 19809439 19809439 C T SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.409 p.R137W 0.185 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 126 0 0 51 12 19.0476 NEFM 0 genome.wustl.edu 37 8 24774700 24774700 + Silent SNP C C G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 24774700 24774700 C G SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.1332 p.P444 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 133 0 0 53 9 14.5161 ADAM2 0 genome.wustl.edu 37 8 39613289 39613289 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 39613289 39613289 T A SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1755 p.Q585H 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 58 0 0 36 10 21.7391 PRKDC 0 genome.wustl.edu 37 8 48701571 48701571 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 48701571 48701571 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.10795 p.P3599T 0.001 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 113 0 0 36 7 16.2791 CHD7 0 genome.wustl.edu 37 8 61654080 61654080 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 61654080 61654080 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.89 p.P30L 1.000 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 42 0 0 20 4 16.6667 CYP7B1 0 genome.wustl.edu 37 8 65528708 65528708 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 65528708 65528708 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.390 p.K130N 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 63 0 0 47 15 24.1935 TRIM55 0 genome.wustl.edu 37 8 67066483 67066483 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 67066483 67066483 C T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.1438 p.R480W 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 105 0 0 46 10 17.8571 C8orf34 0 genome.wustl.edu 37 8 69728125 69728125 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 69728125 69728125 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known silent c.1554 p.S518 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 164 0 0 48 26 35.1351 HNF4G 0 genome.wustl.edu 37 8 76452273 76452273 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 76452273 76452273 A G SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.46 p.T16A 0.999 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,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 225 0 0 116 15 11.4504 ZFHX4 0 genome.wustl.edu 37 8 77765876 77765876 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 77765876 77765876 T G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.6719 p.V2240G 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 73 0 0 34 21 38.1818 CA13 0 genome.wustl.edu 37 8 86163053 86163053 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 86163053 86163053 A G SNP CA13 ENST00000321764 human ensembl 74_37 +1 known missense c.122 p.Y41C 1.000 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 CA13 HGNC ENSG00000185015 234 0 0 124 27 17.8808 TMEM67 0 genome.wustl.edu 37 8 94805495 94805495 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 94805495 94805495 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1645 p.R549C 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 132 0 0 42 12 22.2222 CPQ 0 genome.wustl.edu 37 8 98155373 98155373 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 98155373 98155373 G A SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.1381 p.V461I 0.985 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 102 0 0 68 7 9.33333 C8orf47 0 genome.wustl.edu 37 8 99101668 99101668 + Missense_Mutation SNP G G C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 99101668 99101668 G C SNP C8orf47 ENST00000318528 human ensembl 74_37 +1 known missense c.423 p.E141D 0.001 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 104 0 0 42 14 25 NR4A3 0 genome.wustl.edu 37 9 102590532 102590532 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 102590532 102590532 G A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.241 p.E81K 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 162 0 0 58 17 22.6667 FAM206A 0 genome.wustl.edu 37 9 111701922 111701922 + Nonsense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 111701922 111701922 G T SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known nonsense c.502 p.E168* 1.000 pfam_GCV_H,superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 100 0 0 33 5 13.1579 EPB41L4B 0 genome.wustl.edu 37 9 111956584 111956584 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 111956584 111956584 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known silent c.2139 p.S713 0.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 212 1 0.469484 55 20 26.6667 SVEP1 0 genome.wustl.edu 37 9 113221306 113221306 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 113221306 113221306 T G SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.3410 p.K1137T 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 185 0 0 85 17 16.6667 TRUB2 0 genome.wustl.edu 37 9 131071975 131071975 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 131071975 131071975 G A SNP TRUB2 ENST00000372890 human ensembl 74_37 -1 known missense c.850 p.R284W 0.012 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC ENSG00000167112 70 0 0 37 5 11.9048 SLC27A4 0 genome.wustl.edu 37 9 131117771 131117771 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 131117771 131117771 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known silent c.1557 p.T519 0.086 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 79 0 0 42 5 10.6383 SH3GLB2 0 genome.wustl.edu 37 9 131783492 131783492 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 131783492 131783492 C T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.212 p.R71Q 0.997 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 28 0 0 13 2 13.3333 FUBP3 0 genome.wustl.edu 37 9 133506105 133506105 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 133506105 133506105 G A SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.1208 p.R403Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 77 0 0 35 8 18.6047 GTF3C5 0 genome.wustl.edu 37 9 135929863 135929863 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 135929863 135929863 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.1057 p.V353I 0.202 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 80 0 0 28 7 20 ADAMTSL2 0 genome.wustl.edu 37 9 136402618 136402618 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 136402618 136402618 G A SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.509 p.R170H 1.000 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_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 127 1 0.78125 40 4 9.09091 SARDH 0 genome.wustl.edu 37 9 136573487 136573487 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 136573487 136573487 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.1392 p.Y464 0.921 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 219 0 0 93 7 7 GLT6D1 0 genome.wustl.edu 37 9 138516492 138516492 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 138516492 138516492 C T SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known silent c.282 p.P94 0.000 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 137 0 0 65 14 17.7215 PHPT1 0 genome.wustl.edu 37 9 139743963 139743963 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 139743963 139743963 C T SNP PHPT1 ENST00000247665 human ensembl 74_37 +1 known silent c.81 p.V27 0.877 pfam_Ocnus pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 173 0 0 46 18 28.125 LCN12 0 genome.wustl.edu 37 9 139847315 139847315 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 139847315 139847315 G A SNP LCN12 ENST00000495410 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LCN12 HGNC ENSG00000184925 153 0 0 63 19 23.1707 C9orf142 0 genome.wustl.edu 37 9 139888360 139888360 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 139888360 139888360 G A SNP C9orf142 ENST00000463765 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf142 HGNC ENSG00000148362 14 0 0 7 2 22.2222 CACNA1B 0 genome.wustl.edu 37 9 141016353 141016353 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 141016353 141016353 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6925 p.R2309C 0.982 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 119 1 0.833333 44 4 8.33333 SLC24A2 0 genome.wustl.edu 37 9 19785935 19785935 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 19785935 19785935 C A SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.930 p.K310N 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 131 0 0 50 10 16.6667 FOCAD 0 genome.wustl.edu 37 9 20944775 20944775 + Splice_Site SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 20944775 20944775 T C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known splice_site c.3555+2 e28+2 1.000 - - - no_errors FOCAD HGNC ENSG00000188352 46 0 0 20 3 13.0435 IFNA7 0 genome.wustl.edu 37 9 21201782 21201782 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 21201782 21201782 C A SNP IFNA7 ENST00000239347 human ensembl 74_37 -1 known missense c.383 p.G128V 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA7 HGNC ENSG00000214042 362 0 0 185 18 8.867 UNC13B 0 genome.wustl.edu 37 9 35382496 35382496 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 35382496 35382496 A G SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2551 p.N851D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 225 0 0 123 24 16.3265 CD72 0 genome.wustl.edu 37 9 35616552 35616552 + RNA SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 35616552 35616552 G A SNP CD72 ENST00000490239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD72 HGNC ENSG00000137101 42 0 0 25 7 21.875 SLC1A1 0 genome.wustl.edu 37 9 4576621 4576621 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 4576621 4576621 G A SNP SLC1A1 ENST00000262352 human ensembl 74_37 +1 known missense c.1051 p.D351N 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 182 0 0 85 11 11.4583 ERMP1 0 genome.wustl.edu 37 9 5787567 5787567 + Nonsense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 5787567 5787567 G A SNP ERMP1 ENST00000339450 human ensembl 74_37 -1 known nonsense c.2413 p.R805* 0.990 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 162 0 0 76 13 14.6067 TRPM6 0 genome.wustl.edu 37 9 77403574 77403574 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 77403574 77403574 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2623 p.V875F 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 190 1 0.52356 59 17 22.3684 PCSK5 0 genome.wustl.edu 37 9 78686713 78686713 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 78686713 78686713 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.793 p.V265M 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_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 317 0 0 118 20 14.4928 PRUNE2 0 genome.wustl.edu 37 9 79322985 79322985 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 79322985 79322985 T C SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3128 p.E1043G 0.014 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 68 0 0 40 12 23.0769 AGTPBP1 0 genome.wustl.edu 37 9 88200433 88200433 + Nonsense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 88200433 88200433 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known nonsense c.3146 p.W1049* 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 211 0 0 109 23 17.4242 DAPK1 0 genome.wustl.edu 37 9 90321379 90321379 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 90321379 90321379 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.3468 p.I1156 0.043 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 69 0 0 24 3 11.1111 MORF4L2 0 genome.wustl.edu 37 X 102931372 102931372 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 102931372 102931372 C A SNP MORF4L2 ENST00000360458 human ensembl 74_37 -1 known missense c.584 p.G195V 1.000 pfam_MRG_dom pfam_MRG_dom,superfamily_Chromodomain-like - no_errors MORF4L2 HGNC ENSG00000123562 80 0 0 35 12 25.5319 LRCH2 0 genome.wustl.edu 37 X 114357666 114357666 + Nonsense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 114357666 114357666 C A SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known nonsense c.1939 p.E647* 1.000 superfamily_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 28 0 0 8 6 42.8571 MAP7D3 0 genome.wustl.edu 37 X 135313820 135313820 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 135313820 135313820 C A SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.1242 p.G414 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 92 0 0 40 30 42.8571 GPM6B 0 genome.wustl.edu 37 X 13795513 13795513 + Missense_Mutation SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 13795513 13795513 T G SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known missense c.729 p.K243N 0.998 pfam_Myelin_PLP,smart_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 50 0 0 15 6 28.5714 MAGEC1 0 genome.wustl.edu 37 X 140994648 140994648 + Silent SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 140994648 140994648 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.1458 p.S486 0.119 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 252 0 0 99 52 34.4371 IDS 0 genome.wustl.edu 37 X 148577905 148577905 + Missense_Mutation SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 148577905 148577905 G A SNP IDS ENST00000340855 human ensembl 74_37 -1 known missense c.851 p.P284L 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 104 0 0 21 20 48.7805 CD99L2 0 genome.wustl.edu 37 X 149938842 149938842 + Missense_Mutation SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 149938842 149938842 T A SNP CD99L2 ENST00000370377 human ensembl 74_37 -1 known missense c.656 p.Q219L 1.000 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 34 0 0 25 3 10.7143 PASD1 0 genome.wustl.edu 37 X 150817162 150817162 + Silent SNP T T A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 150817162 150817162 T A SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known silent c.705 p.A235 0.044 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 100 0 0 36 24 40 CNGA2 0 genome.wustl.edu 37 X 150912810 150912810 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 150912810 150912810 A G SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.1835 p.Y612C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 167 0 0 68 8 10.5263 HCFC1 0 genome.wustl.edu 37 X 153228859 153228859 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 153228859 153228859 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.529 p.E177K 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 44 0 0 13 12 48 FLNA 0 genome.wustl.edu 37 X 153588107 153588107 + Silent SNP G G A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 153588107 153588107 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.3972 p.Y1324 0.821 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 65 0 0 20 10 33.3333 ENSG00000270726 0 genome.wustl.edu 37 X 155254981 155254981 + RNA SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 155254981 155254981 C A SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 48 0 0 23 3 11.5385 CDKL5 0 genome.wustl.edu 37 X 18598025 18598025 + Missense_Mutation SNP A A G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 18598025 18598025 A G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.340 p.S114G 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 CDKL5 HGNC ENSG00000008086 69 0 0 31 10 24.3902 WAS 0 genome.wustl.edu 37 X 48545268 48545268 + Missense_Mutation SNP C C A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 48545268 48545268 C A SNP WAS ENST00000376701 human ensembl 74_37 +1 known missense c.658 p.P220T 0.058 NULL 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 WAS HGNC ENSG00000015285 42 0 0 16 5 23.8095 SHROOM4 0 genome.wustl.edu 37 X 50378091 50378091 + Missense_Mutation SNP G G T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 50378091 50378091 G T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.982 p.L328I 0.912 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 46 0 0 10 3 23.0769 GSPT2 0 genome.wustl.edu 37 X 51487718 51487718 + Silent SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 51487718 51487718 T C SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known silent c.996 p.H332 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 169 0 0 44 12 21.4286 MAGED1 0 genome.wustl.edu 37 X 51640096 51640096 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 51640096 51640096 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1513 p.R505C 0.224 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 45 0 0 13 2 13.3333 TSPYL2 0 genome.wustl.edu 37 X 53113997 53113997 + Missense_Mutation SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 53113997 53113997 C T SNP TSPYL2 ENST00000375442 human ensembl 74_37 +1 known missense c.946 p.P316S 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 68 0 0 32 4 11.1111 XIST 0 genome.wustl.edu 37 X 73069973 73069973 + RNA SNP T T G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 73069973 73069973 T G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 51 0 0 18 12 40 MAGEE2 0 genome.wustl.edu 37 X 75004886 75004886 + Missense_Mutation SNP T T C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 75004886 75004886 T C SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.1 p.M1V 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 48 0 0 7 5 41.6667 USP9Y 0 genome.wustl.edu 37 Y 14848463 14848463 + Silent SNP C C T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e Y 14848463 14848463 C T SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known silent c.1144 p.L382 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 45 0 0 10 7 41.1765 GDAP2 0 genome.wustl.edu 37 1 118413059 118413059 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 118413059 118413059 A - DEL GDAP2 ENST00000491626 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GDAP2 HGNC ENSG00000196505 30 0 0 14 5 26.3158 ADAM30 0 genome.wustl.edu 37 1 120438116 120438116 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 120438116 120438116 T - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.844 p.S282fs 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 ADAM30 HGNC ENSG00000134249 100 0 0 49 9 15.5172 CD84 0 genome.wustl.edu 37 1 160520869 160520869 + RNA DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 160520869 160520869 T - DEL CD84 ENST00000466767 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD84 HGNC ENSG00000066294 95 0 0 75 16 17.5824 PPOX 0 genome.wustl.edu 37 1 161137804 161137804 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 161137804 161137804 C - DEL PPOX ENST00000352210 human ensembl 74_37 +1 known frame_shift_del c.358 p.F122fs 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 196 0 0 122 15 10.9489 SCYL3 0 genome.wustl.edu 37 1 169823472 169823472 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 169823472 169823472 T - DEL SCYL3 ENST00000367770 human ensembl 74_37 -1 known frame_shift_del c.2108 p.K703fs 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 150 0 0 81 17 17.3469 PRG4 0 genome.wustl.edu 37 1 186277935 186277936 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 186277935 186277936 - A INS PRG4 ENST00000445192 human ensembl 74_37 +1 known frame_shift_ins c.3084_3085 p.P1030fs 0.399:0.367 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 251 0 0 67 13 16.25 TROVE2 0 genome.wustl.edu 37 1 193045113 193045115 + In_Frame_Del DEL AGA AGA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 193045113 193045115 AGA - DEL TROVE2 ENST00000367441 human ensembl 74_37 +1 known in_frame_del c.744_746 p.E250in_frame_del 1.000:1.000:1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 140 0 0 44 9 16.9811 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 72 0 0 34 8 19.0476 PLEKHA6 0 genome.wustl.edu 37 1 204226851 204226851 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 204226851 204226851 G - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.1154 p.P385fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 24 0 0 10 5 33.3333 CENPF 0 genome.wustl.edu 37 1 214791998 214791999 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 214791998 214791999 - T INS CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_ins c.442_443 p.T150fs 0.099:0.018 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 119 0 0 62 9 12.6761 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 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 ZNF124 HGNC ENSG00000196418 92 0 0 74 8 9.7561 AHDC1 0 genome.wustl.edu 37 1 27876869 27876869 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 27876869 27876869 T - DEL AHDC1 ENST00000247087 human ensembl 74_37 -1 known frame_shift_del c.1758 p.K586fs 0.415 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 178 0 0 53 14 20.8955 CLSPN 0 genome.wustl.edu 37 1 36226252 36226252 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 36226252 36226252 C - DEL CLSPN ENST00000318121 human ensembl 74_37 -1 known frame_shift_del c.1270 p.D424fs 0.001 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 267 0 0 132 10 7.04225 PPCS 0 genome.wustl.edu 37 1 42925658 42925658 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 42925658 42925658 A - DEL PPCS ENST00000469615 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors PPCS HGNC ENSG00000127125 24 0 0 20 7 25.9259 FAAH 0 genome.wustl.edu 37 1 46871370 46871370 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 46871370 46871370 C - DEL FAAH ENST00000243167 human ensembl 74_37 +1 known frame_shift_del c.689 p.L232fs 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 214 1 0.465116 81 23 22.1154 JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 180 0 0 87 13 13 JAK1 0 genome.wustl.edu 37 1 65330630 65330630 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 65330630 65330630 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.1016 p.N339fs 0.934 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 73 0 0 29 6 17.1429 LRRC8C 0 genome.wustl.edu 37 1 90180340 90180340 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 1 90180340 90180340 A - DEL LRRC8C ENST00000370454 human ensembl 74_37 +1 known frame_shift_del c.2211 p.N739fs 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 100 0 0 54 8 12.9032 TACC2 0 genome.wustl.edu 37 10 123970379 123970380 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 123970379 123970380 - C INS TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_ins c.6439_6440 p.V2150fs 0.905:0.908 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 473 0 0 153 29 15.9341 INPP5A 0 genome.wustl.edu 37 10 134503931 134503931 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 134503931 134503931 A - DEL INPP5A ENST00000368594 human ensembl 74_37 +1 known frame_shift_del c.342 p.N116fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 189 0 0 98 14 12.5 MASTL 0 genome.wustl.edu 37 10 27459272 27459272 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 27459272 27459272 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1384 p.T464fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 MASTL HGNC ENSG00000120539 94 0 0 49 9 15.5172 MPP7 0 genome.wustl.edu 37 10 28348538 28348538 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 28348538 28348538 A - DEL MPP7 ENST00000496637 human ensembl 74_37 -1 known frame_shift_del c.1339 p.Y447fs 0.021 NULL pfam_L27_C,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,superfamily_P-loop_NTPase,smart_L27,smart_PDZ,smart_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 50 0 0 31 4 11.4286 SFMBT2 0 genome.wustl.edu 37 10 7214605 7214605 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 7214605 7214605 C - DEL SFMBT2 ENST00000361972 human ensembl 74_37 -1 known frame_shift_del c.2003 p.R668fs 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 113 0 0 28 9 24.3243 KCNMA1 0 genome.wustl.edu 37 10 78771741 78771741 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 10 78771741 78771741 T - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_del c.2088 p.K696fs 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 207 1 0.480769 72 11 13.253 CTSD 0 genome.wustl.edu 37 11 1780829 1780830 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 1780829 1780830 - G INS CTSD ENST00000236671 human ensembl 74_37 -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:0.999 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 101 0 0 47 6 11.3208 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 92 0 0 50 9 15.2542 UBQLN3 0 genome.wustl.edu 37 11 5529644 5529644 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 5529644 5529644 G - DEL UBQLN3 ENST00000311659 human ensembl 74_37 -1 known frame_shift_del c.1145 p.P382fs 0.499 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 313 1 0.318471 110 16 12.6984 PPP2R5B 0 genome.wustl.edu 37 11 64699297 64699297 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 64699297 64699297 T - DEL PPP2R5B ENST00000164133 human ensembl 74_37 +1 known frame_shift_del c.1073 p.F359fs 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 166 0 0 52 13 20 SPDYC 0 genome.wustl.edu 37 11 64940287 64940288 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 11 64940287 64940288 - C INS SPDYC ENST00000377185 human ensembl 74_37 +1 known frame_shift_ins c.649_650 p.C219fs 0.960:0.967 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 146 0 0 54 12 18.1818 UTP20 0 genome.wustl.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 101680156 101680157 - T INS UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_ins c.384_385 p.L130fs 0.834:1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 438 0 0 189 26 12.093 APPL2 0 genome.wustl.edu 37 12 105597552 105597552 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 105597552 105597552 A - DEL APPL2 ENST00000551662 human ensembl 74_37 -1 known frame_shift_del c.651 p.F217fs 0.999 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 278 0 0 89 17 16.0377 TAS2R8 0 genome.wustl.edu 37 12 10959538 10959544 + Frame_Shift_Del DEL AGTTATT AGTTATT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 AGTTATT AGTTATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 10959538 10959544 AGTTATT - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.42_36 p.I13fs 0.010:0.009:0.010:0.003:0.002:0.001:0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 172 0 0 80 8 9.09091 OAS2 0 genome.wustl.edu 37 12 113436174 113436174 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 113436174 113436174 A - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.967 p.N323fs 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 247 0 0 91 14 13.3333 KNTC1 0 genome.wustl.edu 37 12 123087620 123087620 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 123087620 123087620 A - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.4931 p.K1646fs 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 66 0 0 21 4 16 PCED1B 0 genome.wustl.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 47628998 47628998 G - DEL PCED1B ENST00000432328 human ensembl 74_37 +1 known frame_shift_del c.152 p.E53fs 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 85 0 0 46 8 14.8148 ENSG00000257913 0 genome.wustl.edu 37 12 49412460 49412461 + RNA INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 49412460 49412461 - G INS ENSG00000257913 ENST00000547395 human ensembl 74_37 +1 known rna NULL NULL 0.113:0.377 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 192 0 0 75 12 13.7931 VWF 0 genome.wustl.edu 37 12 6153589 6153589 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 6153589 6153589 G - DEL VWF ENST00000261405 human ensembl 74_37 -1 known frame_shift_del c.2310 p.M771fs 1.000 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 61 0 0 39 6 13.3333 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 81 0 0 60 10 14.2857 TMTC3 0 genome.wustl.edu 37 12 88553917 88553917 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 12 88553917 88553917 T - DEL TMTC3 ENST00000266712 human ensembl 74_37 +1 known frame_shift_del c.535 p.L180fs 0.739 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 325 0 0 104 25 19.3798 FNDC3A 0 genome.wustl.edu 37 13 49710541 49710542 + In_Frame_Ins INS - - AAATTG TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 49710541 49710542 - AAATTG INS FNDC3A ENST00000492622 human ensembl 74_37 +1 known in_frame_ins c.564_565 p.191in_frame_insLK 0.997:1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 95 0 0 73 7 8.75 RBM26 0 genome.wustl.edu 37 13 79918807 79918807 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 79918807 79918807 T - DEL RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_del c.2109 p.K703fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 71 0 0 34 7 17.0732 PTMAP5 0 genome.wustl.edu 37 13 82265134 82265134 + RNA DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 13 82265134 82265134 T - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PTMAP5 HGNC ENSG00000214182 79 0 0 14 10 41.6667 CDH24 0 genome.wustl.edu 37 14 23517514 23517514 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 23517514 23517514 G - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.2135 p.P712fs 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 153 1 0.649351 39 13 25 AP1G2 0 genome.wustl.edu 37 14 24029053 24029053 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 24029053 24029053 G - DEL AP1G2 ENST00000308724 human ensembl 74_37 -1 known frame_shift_del c.2263 p.L755fs 0.891 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app 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 AP1G2 HGNC ENSG00000213983 46 0 0 34 3 8.10811 SNX6 0 genome.wustl.edu 37 14 35037080 35037081 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 35037080 35037081 - T INS SNX6 ENST00000362031 human ensembl 74_37 -1 known frame_shift_ins c.1097_1096 p.I366fs 1.000:1.000 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 82 0 0 65 12 15.5844 GALNT16 0 genome.wustl.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 14 69800299 69800300 - G INS GALNT16 ENST00000337827 human ensembl 74_37 +1 known frame_shift_ins c.949_950 p.E320fs 1.000:1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 88 0 0 45 9 16.6667 DUOX2 0 genome.wustl.edu 37 15 45392986 45392986 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 45392986 45392986 C - DEL DUOX2 ENST00000389039 human ensembl 74_37 -1 known frame_shift_del c.2972 p.G991fs 0.055 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 217 0 0 82 16 16.3265 TRIP4 0 genome.wustl.edu 37 15 64689829 64689831 + In_Frame_Del DEL AAG AAG - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 64689829 64689831 AAG - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known in_frame_del c.430_432 p.K146in_frame_del 1.000:1.000:1.000 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 125 0 0 58 10 14.7059 PLEKHO2 0 genome.wustl.edu 37 15 65157548 65157548 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 15 65157548 65157548 C - DEL PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known frame_shift_del c.934 p.P313fs 0.992 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 147 0 0 67 8 10.6667 VWA3A 0 genome.wustl.edu 37 16 22137564 22137565 + In_Frame_Ins INS - - GCG TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 22137564 22137565 - GCG INS VWA3A ENST00000389398 human ensembl 74_37 +1 known in_frame_ins c.1598_1599 p.535in_frame_insR 1.000:0.999 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 184 0 0 85 11 11.4583 APOBR 0 genome.wustl.edu 37 16 28509223 28509223 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 28509223 28509223 C - DEL APOBR ENST00000564831 human ensembl 74_37 +1 known frame_shift_del c.2861 p.P955fs 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 43 0 0 14 3 17.6471 ATXN2L 0 genome.wustl.edu 37 16 28844622 28844622 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 28844622 28844622 C - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.1902 p.P636fs 0.999 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 173 0 0 91 7 7.14286 CYLD 0 genome.wustl.edu 37 16 50825519 50825519 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 50825519 50825519 A - DEL CYLD ENST00000311559 human ensembl 74_37 +1 known frame_shift_del c.2159 p.N722fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 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 104 0 0 66 10 13.1579 TERF2 0 genome.wustl.edu 37 16 69391425 69391425 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 69391425 69391425 T - DEL TERF2 ENST00000254942 human ensembl 74_37 -1 known frame_shift_del c.1466 p.K489fs 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 172 0 0 76 12 13.6364 HPR 0 genome.wustl.edu 37 16 72107693 72107694 + Frame_Shift_Del DEL GT GT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 72107693 72107694 GT - DEL HPR ENST00000228226 human ensembl 74_37 +1 known frame_shift_del c.19_20 p.C10fs 0.010:0.011 NULL pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 39 0 0 31 8 20.5128 HAGHL 0 genome.wustl.edu 37 16 784641 784641 + RNA DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 784641 784641 C - DEL HAGHL ENST00000569604 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC ENSG00000103253 127 0 0 60 11 15.493 CDH15 0 genome.wustl.edu 37 16 89260261 89260261 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 16 89260261 89260261 C - DEL CDH15 ENST00000289746 human ensembl 74_37 +1 known frame_shift_del c.2091 p.Q699fs 0.033 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 78 0 0 17 4 19.0476 FLCN 0 genome.wustl.edu 37 17 17119708 17119709 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 17119708 17119709 - G INS FLCN ENST00000285071 human ensembl 74_37 -1 known frame_shift_ins c.1286_1285 p.H429fs 1.000:1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 47 0 0 17 6 26.087 SYNGR2 0 genome.wustl.edu 37 17 76167865 76167867 + In_Frame_Del DEL GAC GAC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 17 76167865 76167867 GAC - DEL SYNGR2 ENST00000225777 human ensembl 74_37 +1 known in_frame_del c.523_525 p.D176in_frame_del 0.859:0.841:0.014 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 194 0 0 78 13 14.2857 COLEC12 0 genome.wustl.edu 37 18 331763 331763 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 18 331763 331763 T - DEL COLEC12 ENST00000400256 human ensembl 74_37 -1 known frame_shift_del c.1968 p.K656fs 0.873 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 63 0 0 37 7 15.9091 C19orf26 0 genome.wustl.edu 37 19 1231197 1231197 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 1231197 1231197 G - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.1117 p.Q373fs 0.957 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 170 0 0 49 7 12.5 GIPC1 0 genome.wustl.edu 37 19 14593698 14593698 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 14593698 14593698 C - DEL GIPC1 ENST00000345425 human ensembl 74_37 -1 known frame_shift_del c.91 p.E31fs 0.977 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 9 0 0 5 3 37.5 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167776 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 33167776 33167776 G - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607 p.G205fs 0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 34 0 0 8 3 27.2727 ARHGAP33 0 genome.wustl.edu 37 19 36278843 36278843 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 36278843 36278843 C - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.3376 p.P1127fs 0.997 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 46 0 0 24 4 14.2857 SIPA1L3 0 genome.wustl.edu 37 19 38572957 38572958 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 38572957 38572958 - G INS SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_ins c.752_753 p.G254fs 0.040:0.042 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 65 0 0 33 5 13.1579 ZNF701 0 genome.wustl.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 53086002 53086002 A - DEL ZNF701 ENST00000301093 human ensembl 74_37 +1 known frame_shift_del c.888 p.K298fs 0.000 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 ZNF701 HGNC ENSG00000167562 142 0 0 65 9 12.1622 NLRP4 0 genome.wustl.edu 37 19 56370249 56370249 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 56370249 56370249 T - DEL NLRP4 ENST00000301295 human ensembl 74_37 +1 known frame_shift_del c.1490 p.L499fs 0.006 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 218 0 0 84 17 16.8317 ZIM3 0 genome.wustl.edu 37 19 57646555 57646555 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 19 57646555 57646555 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.1150 p.I384fs 0.890 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 ZIM3 HGNC ENSG00000141946 262 0 0 157 19 10.7955 ACVR2A 0 genome.wustl.edu 37 2 148683727 148683728 + Frame_Shift_Ins INS - - G TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 148683727 148683728 - G INS ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_ins c.1344_1345 p.A448fs 1.000:1.000 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,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 180 0 0 83 32 27.8261 PLA2R1 0 genome.wustl.edu 37 2 160873180 160873181 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 160873180 160873181 - A INS PLA2R1 ENST00000283243 human ensembl 74_37 -1 known frame_shift_ins c.1496_1495 p.Y499fs 0.318:0.335 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 153 0 0 113 12 9.6 PSMD14 0 genome.wustl.edu 37 2 162227710 162227710 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 162227710 162227710 C - DEL PSMD14 ENST00000409682 human ensembl 74_37 +1 known frame_shift_del c.339 p.H113fs 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD14 HGNC ENSG00000115233 47 0 0 22 4 15.3846 TTN-AS1 0 genome.wustl.edu 37 2 179392051 179392052 + RNA INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 179392051 179392052 - A INS TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 46 0 0 32 9 21.9512 TFPI 0 genome.wustl.edu 37 2 188361620 188361620 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 188361620 188361620 T - DEL TFPI ENST00000233156 human ensembl 74_37 -1 known frame_shift_del c.307 p.M103fs 0.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 129 0 0 58 12 17.1429 CASP8 0 genome.wustl.edu 37 2 202137437 202137438 + Frame_Shift_Del DEL TC TC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 202137437 202137438 TC - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.665_666 p.A224fs 0.949:0.989 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 321 0 0 116 12 9.375 UGT1A4 0 genome.wustl.edu 37 2 234627977 234627977 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 234627977 234627977 T - DEL UGT1A4 ENST00000373409 human ensembl 74_37 +1 known frame_shift_del c.511 p.W173fs 0.388 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 330 0 0 136 33 19.5266 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 123 1 0.806452 62 11 15.0685 CLIP4 0 genome.wustl.edu 37 2 29379233 29379233 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 29379233 29379233 A - DEL CLIP4 ENST00000320081 human ensembl 74_37 +1 known frame_shift_del c.1179 p.D396fs 0.787 superfamily_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 91 0 0 41 9 18 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 182 1 0.546448 96 27 21.9512 BCL11A 0 genome.wustl.edu 37 2 60689254 60689254 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 60689254 60689254 G - DEL BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_del c.793 p.L265fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 78 0 0 59 8 11.9403 B3GNT2 0 genome.wustl.edu 37 2 62449455 62449456 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 62449455 62449456 - A INS B3GNT2 ENST00000301998 human ensembl 74_37 +1 known frame_shift_ins c.100_101 p.N36fs 1.000:1.000 NULL pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 199 0 0 137 28 16.9697 KRCC1 0 genome.wustl.edu 37 2 88327536 88327536 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 2 88327536 88327536 T - DEL KRCC1 ENST00000347055 human ensembl 74_37 -1 known frame_shift_del c.547 p.S183fs 0.005 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 167 0 0 100 24 19.3548 NINL 0 genome.wustl.edu 37 20 25485604 25485604 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 25485604 25485604 C - DEL NINL ENST00000278886 human ensembl 74_37 -1 known frame_shift_del c.628 p.V210fs 0.308 smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 79 0 0 37 6 13.9535 PLAGL2 0 genome.wustl.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 30789952 30789952 G - DEL PLAGL2 ENST00000246229 human ensembl 74_37 -1 known frame_shift_del c.30 p.W11fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 92 0 0 56 7 11.1111 RBL1 0 genome.wustl.edu 37 20 35696449 35696449 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 35696449 35696449 A - DEL RBL1 ENST00000373664 human ensembl 74_37 -1 known frame_shift_del c.431 p.L144fs 1.000 pfam_RB_N pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 134 0 0 67 8 10.6667 CTNNBL1 0 genome.wustl.edu 37 20 36361416 36361416 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 36361416 36361416 A - DEL CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known frame_shift_del c.85 p.R31fs 1.000 pfam_CTNNBL1_N pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 78 0 0 20 5 20 ZNF831 0 genome.wustl.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 57766219 57766220 - C INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.145_146 p.T52fs 0.658:0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 89 0 0 40 5 11.1111 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 63 0 0 40 9 18.3673 H1F0 0 genome.wustl.edu 37 22 38202023 38202023 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 38202023 38202023 A - DEL H1F0 ENST00000340857 human ensembl 74_37 +1 known frame_shift_del c.472 p.K159fs 1.000 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors H1F0 HGNC ENSG00000189060 171 0 0 54 9 14.2857 WBP2NL 0 genome.wustl.edu 37 22 42423016 42423016 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 42423016 42423016 C - DEL WBP2NL ENST00000328823 human ensembl 74_37 +1 known frame_shift_del c.761 p.P255fs 0.000 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2NL HGNC ENSG00000183066 740 0 0 253 52 17.0492 RABL2B 0 genome.wustl.edu 37 22 51208039 51208039 + RNA DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 22 51208039 51208039 G - DEL RABL2B ENST00000465063 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC ENSG00000079974 95 0 0 33 6 15.3846 NR2C2 0 genome.wustl.edu 37 3 15062405 15062406 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 15062405 15062406 - A INS NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_ins c.579_580 p.C195fs 0.986:1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 149 0 0 63 16 20.2532 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159605580 159605595 + Frame_Shift_Del DEL GCAAAAGAAATTGCAA GCAAAAGAAATTGCAA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 GCAAAAGAAATTGCAA GCAAAAGAAATTGCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 159605580 159605595 GCAAAAGAAATTGCAA - DEL IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known frame_shift_del c.1308_1323 p.Q437fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:0.995:1.000:1.000:1.000:1.000:1.000 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 218 0 0 138 15 9.80392 TTC14 0 genome.wustl.edu 37 3 180328072 180328073 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 180328072 180328073 - A INS TTC14 ENST00000296015 human ensembl 74_37 +1 known frame_shift_ins c.2055_2056 p.Y687fs 0.161:0.730 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 119 0 0 62 12 16.2162 HES1 0 genome.wustl.edu 37 3 193854469 193854469 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 193854469 193854469 A - DEL HES1 ENST00000232424 human ensembl 74_37 +1 known frame_shift_del c.172 p.T59fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HES1 HGNC ENSG00000114315 115 0 0 25 2 7.40741 CPN2 0 genome.wustl.edu 37 3 194062035 194062035 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 194062035 194062035 C - DEL CPN2 ENST00000323830 human ensembl 74_37 -1 known frame_shift_del c.1397 p.G466fs 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 220 0 0 82 9 9.89011 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 110 0 0 29 3 9.375 WDR82 0 genome.wustl.edu 37 3 52292655 52292656 + Frame_Shift_Del DEL CT CT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 52292655 52292656 CT - DEL WDR82 ENST00000296490 human ensembl 74_37 -1 known frame_shift_del c.809_808 p.S270fs 1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_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 WDR82 HGNC ENSG00000164091 202 0 0 101 16 13.6752 FLNB 0 genome.wustl.edu 37 3 58089788 58089788 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 58089788 58089788 G - DEL FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_del c.1586 p.G531fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 132 0 0 46 7 13.2075 CNTN3 0 genome.wustl.edu 37 3 74548856 74548856 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 3 74548856 74548856 T - DEL CNTN3 ENST00000263665 human ensembl 74_37 -1 known frame_shift_del c.136 p.I46fs 0.956 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN3 HGNC ENSG00000113805 149 0 0 71 11 13.4146 TDO2 0 genome.wustl.edu 37 4 156830081 156830090 + Frame_Shift_Del DEL CACCGAGTGT CACCGAGTGT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CACCGAGTGT CACCGAGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 156830081 156830090 CACCGAGTGT - DEL TDO2 ENST00000536354 human ensembl 74_37 +1 known frame_shift_del c.346_355 p.H116fs 1.000:1.000:0.995:1.000:1.000:0.978:0.986:0.986:0.030:0.003 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 98 0 0 56 15 21.1268 ZCCHC4 0 genome.wustl.edu 37 4 25353254 25353254 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 25353254 25353254 T - DEL ZCCHC4 ENST00000302874 human ensembl 74_37 +1 known frame_shift_del c.954 p.F320fs 1.000 NULL pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZCCHC4 HGNC ENSG00000168228 211 0 0 75 15 16.6667 MFSD10 0 genome.wustl.edu 37 4 2934405 2934406 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 2934405 2934406 - C INS MFSD10 ENST00000329687 human ensembl 74_37 -1 known frame_shift_ins c.453_452 p.I152fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 194 0 0 55 12 17.9104 FRYL 0 genome.wustl.edu 37 4 48604082 48604083 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 48604082 48604083 - A INS FRYL ENST00000358350 human ensembl 74_37 -1 known frame_shift_ins c.990_989 p.L330fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 122 1 0.813008 50 9 15.2542 POLR2B 0 genome.wustl.edu 37 4 57888355 57888355 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 57888355 57888355 A - DEL POLR2B ENST00000314595 human ensembl 74_37 +1 known frame_shift_del c.2458 p.G822fs 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 90 0 0 34 10 22.7273 C4orf40 0 genome.wustl.edu 37 4 71024317 71024318 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 4 71024317 71024318 - T INS C4orf40 ENST00000344526 human ensembl 74_37 +1 known frame_shift_ins c.348_349 p.S118fs 0.000:0.000 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 331 0 0 210 17 7.48899 SH3TC2 0 genome.wustl.edu 37 5 148406600 148406605 + In_Frame_Del DEL GATAGT GATAGT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 GATAGT GATAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 148406600 148406605 GATAGT - DEL SH3TC2 ENST00000515425 human ensembl 74_37 -1 known in_frame_del c.2695_2690 p.NYL897in_frame_delI 0.948:0.949:0.983:0.995:0.981:0.001 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 258 0 0 123 29 19.0789 NIPBL 0 genome.wustl.edu 37 5 37064899 37064899 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 37064899 37064899 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.8320 p.I2776fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 97 0 0 49 12 19.6721 LYSMD3 0 genome.wustl.edu 37 5 89815015 89815016 + Frame_Shift_Ins INS - - TC TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 89815015 89815016 - TC INS LYSMD3 ENST00000315948 human ensembl 74_37 -1 known frame_shift_ins c.542_541 p.N181fs 1.000:1.000 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 119 0 0 82 12 12.766 ARRDC3 0 genome.wustl.edu 37 5 90678675 90678677 + In_Frame_Del DEL CTT CTT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 90678675 90678677 CTT - DEL ARRDC3 ENST00000265138 human ensembl 74_37 -1 known in_frame_del c.235_233 p.E78in_frame_del 1.000:1.000:1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 228 0 0 117 15 11.3636 ERAP1 0 genome.wustl.edu 37 5 96126242 96126243 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 5 96126242 96126243 - T INS ERAP1 ENST00000296754 human ensembl 74_37 -1 known frame_shift_ins c.1425_1424 p.N475fs 0.988:1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 316 0 0 148 22 12.9412 PHACTR1 0 genome.wustl.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 13206135 13206135 G - DEL PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_del c.753 p.P254fs 0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 174 0 0 101 11 9.82143 FAM8A1 0 genome.wustl.edu 37 6 17608495 17608496 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 17608495 17608496 - T INS FAM8A1 ENST00000259963 human ensembl 74_37 +1 known frame_shift_ins c.1167_1168 p.Q391fs 0.998:1.000 pfam_RDD pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 182 1 0.546448 97 75 43.6047 BAG6 0 genome.wustl.edu 37 6 31617055 31617055 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 31617055 31617055 G - DEL BAG6 ENST00000404765 human ensembl 74_37 -1 known frame_shift_del c.344 p.P115fs 0.993 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 242 0 0 102 16 13.5593 FKBPL 0 genome.wustl.edu 37 6 32096678 32096678 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 32096678 32096678 C - DEL FKBPL ENST00000375156 human ensembl 74_37 -1 known frame_shift_del c.880 p.V294fs 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 229 0 0 115 17 12.8788 FILIP1 0 genome.wustl.edu 37 6 76063371 76063376 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CAGCAA CAGCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 6 76063371 76063376 CAGCAA - DEL FILIP1 ENST00000237172 human ensembl 74_37 -1 known in_frame_del c.513_508 p.LL170in_frame_del 1.000:1.000:0.997:0.995:1.000:1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 147 0 0 68 8 10.5263 COG5 0 genome.wustl.edu 37 7 106924081 106924081 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 106924081 106924081 A - DEL COG5 ENST00000297135 human ensembl 74_37 -1 known frame_shift_del c.1503 p.P503fs 0.925 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 210 0 0 87 15 14.7059 TAS2R16 0 genome.wustl.edu 37 7 122635598 122635616 + Frame_Shift_Del DEL CTGCAACAATTAGGCTGCT CTGCAACAATTAGGCTGCT - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CTGCAACAATTAGGCTGCT CTGCAACAATTAGGCTGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 122635598 122635616 CTGCAACAATTAGGCTGCT - DEL TAS2R16 ENST00000249284 human ensembl 74_37 -1 known frame_shift_del c.91_73 p.S25fs 0.029:0.004:0.005:0.020:0.040:0.034:0.001:0.000:0.000:0.000:0.000:0.006:0.006:0.035:0.072:0.072:0.102:0.582:0.767 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 95 0 0 57 9 13.6364 AOC1 0 genome.wustl.edu 37 7 150554028 150554035 + Frame_Shift_Del DEL AAGCCACC AAGCCACC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 AAGCCACC AAGCCACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 150554028 150554035 AAGCCACC - DEL AOC1 ENST00000416793 human ensembl 74_37 +1 known frame_shift_del c.470_477 p.T159fs 0.005:0.003:0.177:0.196:0.204:0.199:0.044:0.001 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 188 0 0 85 7 7.6087 DNAH11 0 genome.wustl.edu 37 7 21609806 21609806 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 21609806 21609806 A - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.1314 p.K440fs 0.008 pfam_Dynein_heavy_dom-1 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 DNAH11 HGNC ENSG00000105877 148 0 0 80 9 10.1124 ANLN 0 genome.wustl.edu 37 7 36455394 36455394 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 36455394 36455394 A - DEL ANLN ENST00000265748 human ensembl 74_37 +1 known frame_shift_del c.1423 p.K476fs 0.936 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 407 1 0.245098 178 22 11 OGDH 0 genome.wustl.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 44747227 44747228 - C INS OGDH ENST00000222673 human ensembl 74_37 +1 known frame_shift_ins c.2843_2844 p.N950fs 1.000:1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 238 0 0 127 18 12.4138 TBL2 0 genome.wustl.edu 37 7 72985158 72985158 + Frame_Shift_Del DEL G G - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 72985158 72985158 G - DEL TBL2 ENST00000305632 human ensembl 74_37 -1 known frame_shift_del c.1023 p.N342fs 0.702 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 218 0 0 102 25 19.685 PHTF2 0 genome.wustl.edu 37 7 77579112 77579112 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 7 77579112 77579112 A - DEL PHTF2 ENST00000248550 human ensembl 74_37 +1 known frame_shift_del c.2077 p.K694fs 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 11 0 0 9 4 30.7692 VPS13B 0 genome.wustl.edu 37 8 100847792 100847793 + Frame_Shift_Ins INS - - A TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 100847792 100847793 - A INS VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_ins c.9843_9844 p.I3283fs 1.000:1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 106 0 0 64 11 14.6667 ATAD2 0 genome.wustl.edu 37 8 124371882 124371882 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 124371882 124371882 A - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.1201 p.Y401fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 95 0 0 57 7 10.9375 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 46 0 0 24 6 20 MYOM2 0 genome.wustl.edu 37 8 2092844 2092844 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 2092844 2092844 C - DEL MYOM2 ENST00000262113 human ensembl 74_37 +1 known frame_shift_del c.4337 p.P1447fs 0.000 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 132 0 0 41 6 12.766 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 298 0 0 110 11 9.09091 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 236 1 0.421941 87 14 13.8614 POP1 0 genome.wustl.edu 37 8 99168468 99168468 + Frame_Shift_Del DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 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 168 0 0 96 24 20 GSN 0 genome.wustl.edu 37 9 124074857 124074857 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 124074857 124074857 A - DEL GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 12 0 0 9 5 35.7143 KIAA2026 0 genome.wustl.edu 37 9 5968162 5968162 + Frame_Shift_Del DEL T T - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 5968162 5968162 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2069 p.K690fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 27 0 0 19 3 13.6364 SMC5 0 genome.wustl.edu 37 9 72961550 72961552 + In_Frame_Del DEL CTC CTC - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 72961550 72961552 CTC - DEL SMC5 ENST00000361138 human ensembl 74_37 +1 known in_frame_del c.2553_2555 p.S853in_frame_del 1.000:1.000:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 365 0 0 158 23 12.7072 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 16 0 0 17 4 19.0476 ATG4A 0 genome.wustl.edu 37 X 107395166 107395166 + RNA DEL A A - TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 107395166 107395166 A - DEL ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ATG4A HGNC ENSG00000101844 47 0 0 31 7 18.4211 CASK 0 genome.wustl.edu 37 X 41394005 41394006 + Frame_Shift_Ins INS - - T TCGA-BR-8059-01A-11D-2340-08 TCGA-BR-8059-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 157892e9-83f4-44a9-9ad0-4d309678f251 ffe6b1c1-61fa-4e09-9e32-2784a0b4719e X 41394005 41394006 - T INS CASK ENST00000378163 human ensembl 74_37 -1 known frame_shift_ins c.2271_2270 p.N757fs 1.000:1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 102 0 0 34 7 17.0732