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 CHIA 0 genome.wustl.edu 37 1 111861744 111861744 + Silent SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 111861744 111861744 C A SNP CHIA ENST00000343320 human ensembl 74_37 +1 known silent c.918 p.I306 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 42 0 0 47 9 16.0714 TCHH 0 genome.wustl.edu 37 1 152084711 152084711 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 152084711 152084711 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.982 p.R328C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 51 0 0 77 10 11.4943 FLG2 0 genome.wustl.edu 37 1 152327388 152327388 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 152327388 152327388 G T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.2874 p.S958 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 457 0 0 575 66 10.2964 TDRD10 0 genome.wustl.edu 37 1 154516513 154516513 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 154516513 154516513 G T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known missense c.578 p.R193L 0.000 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 151 0 0 166 10 5.68182 NOS1AP 0 genome.wustl.edu 37 1 162325084 162325084 + Nonsense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 162325084 162325084 C T SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known nonsense c.703 p.R235* 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 95 0 0 131 11 7.74648 CROCCP3 0 genome.wustl.edu 37 1 16812113 16812113 + RNA SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 16812113 16812113 G A SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP3 HGNC ENSG00000080947 19 0 0 24 4 14.2857 CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 27 0 0 28 3 9.67742 CAPZB 0 genome.wustl.edu 37 1 19775381 19775381 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 19775381 19775381 A C SNP CAPZB ENST00000264203 human ensembl 74_37 -1 known missense c.28 p.F10V 0.000 NULL pfam_CapZ_beta,prints_CapZ_beta - no_errors CAPZB HGNC ENSG00000077549 40 0 0 35 4 10.2564 NFASC 0 genome.wustl.edu 37 1 204951064 204951064 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 204951064 204951064 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2386 p.P796S 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 NFASC HGNC ENSG00000163531 41 0 0 30 22 42.3077 KCNH1 0 genome.wustl.edu 37 1 211192417 211192417 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 211192417 211192417 T C SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.740 p.N247S 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 87 0 0 102 7 6.42202 DISP1 0 genome.wustl.edu 37 1 223179252 223179252 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 223179252 223179252 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.4513 p.V1505M 0.965 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 70 0 0 85 8 8.60215 OBSCN 0 genome.wustl.edu 37 1 228467905 228467905 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 228467905 228467905 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7689 p.P2563 0.340 pfam_Ig_I-set 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 56 0 0 75 4 5.06329 ARID1A 0 genome.wustl.edu 37 1 27107180 27107180 + Nonsense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 27107180 27107180 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.6791 p.S2264* 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 109 0 0 143 11 7.14286 ROR1 0 genome.wustl.edu 37 1 64644038 64644038 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 64644038 64644038 T G SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.2314 p.S772A 1.000 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 81 0 0 93 5 5.10204 LRRC7 0 genome.wustl.edu 37 1 70493942 70493942 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 70493942 70493942 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.1769 p.P590L 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 79 0 0 58 12 17.1429 LRRC7 0 genome.wustl.edu 37 1 70504683 70504683 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 1 70504683 70504683 C A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3062 p.A1021D 0.993 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 41 0 0 44 6 12 TDRD1 0 genome.wustl.edu 37 10 115966034 115966034 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 115966034 115966034 G A SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1329 p.M443I 1.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 51 0 0 50 6 10.7143 TCERG1L 0 genome.wustl.edu 37 10 132944801 132944801 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 132944801 132944801 G A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1157 p.P386L 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 62 0 0 54 10 15.625 NCOA4 0 genome.wustl.edu 37 10 51579230 51579230 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 51579230 51579230 C T SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known missense c.137 p.A46V 1.000 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 119 0 0 112 24 17.6471 CCAR1 0 genome.wustl.edu 37 10 70509365 70509365 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 70509365 70509365 G A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known silent c.1041 p.E347 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 80 0 0 82 7 7.86517 NODAL 0 genome.wustl.edu 37 10 72192776 72192776 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 72192776 72192776 C T SNP NODAL ENST00000287139 human ensembl 74_37 -1 known silent c.960 p.P320 0.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 146 0 0 141 24 14.5455 PTEN 0 genome.wustl.edu 37 10 89624298 89624298 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 89624298 89624298 C G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.72 p.D24E 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 71 0 0 73 5 6.41026 PIPSL 0 genome.wustl.edu 37 10 95719465 95719465 + RNA SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 10 95719465 95719465 G A SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors PIPSL HGNC ENSG00000180764 25 0 0 40 7 14.8936 CARD16 0 genome.wustl.edu 37 11 104915338 104915338 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 104915338 104915338 C T SNP CARD16 ENST00000375706 human ensembl 74_37 -1 known missense c.55 p.E19K 0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD16 HGNC ENSG00000204397 325 0 0 279 30 9.70874 TSSC4 0 genome.wustl.edu 37 11 2424472 2424472 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 2424472 2424472 G A SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known silent c.609 p.Q203 1.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 55 0 0 40 7 14.8936 FIBIN 0 genome.wustl.edu 37 11 27016359 27016359 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 27016359 27016359 C T SNP FIBIN ENST00000318627 human ensembl 74_37 +1 known missense c.286 p.R96C 0.971 NULL NULL - no_errors FIBIN HGNC ENSG00000176971 40 0 0 39 10 20.4082 ACP2 0 genome.wustl.edu 37 11 47264443 47264443 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 47264443 47264443 G A SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known silent c.969 p.F323 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 47 0 0 49 4 7.54717 OR8J3 0 genome.wustl.edu 37 11 55904988 55904988 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 55904988 55904988 G T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known silent c.207 p.I69 0.003 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 OR8J3 HGNC ENSG00000167822 124 0 0 128 15 10.4895 OR56B1 0 genome.wustl.edu 37 11 5758141 5758141 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 5758141 5758141 A T SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.395 p.Y132F 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 59 0 0 72 9 11.1111 OR5A1 0 genome.wustl.edu 37 11 59211548 59211548 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 59211548 59211548 G T SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known missense c.907 p.A303S 0.006 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 157 1 0.632911 169 18 9.62567 TAF6L 0 genome.wustl.edu 37 11 62554020 62554020 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 62554020 62554020 C G SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.1121 p.A374G 0.998 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 27 0 0 25 8 24.2424 NRXN2 0 genome.wustl.edu 37 11 64434944 64434944 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 64434944 64434944 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1576 p.P526S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 80 0 0 78 11 12.3596 MALAT1 0 genome.wustl.edu 37 11 65268614 65268614 + RNA SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 65268614 65268614 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 58 0 0 54 6 10 RELA 0 genome.wustl.edu 37 11 65425949 65425949 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 65425949 65425949 G A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.686 p.T229M 1.000 superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 37 0 0 22 5 18.5185 ARHGEF17 0 genome.wustl.edu 37 11 73022573 73022573 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 73022573 73022573 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.2890 p.A964T 0.736 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 98 0 0 96 7 6.79612 SYTL2 0 genome.wustl.edu 37 11 85407418 85407418 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 85407418 85407418 C A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.5005 p.D1669Y 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 SYTL2 HGNC ENSG00000137501 81 0 0 87 7 7.44681 FAT3 0 genome.wustl.edu 37 11 92534929 92534929 + Missense_Mutation SNP T T A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 11 92534929 92534929 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8750 p.I2917K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 101 0 0 99 6 5.71429 TCP11L2 0 genome.wustl.edu 37 12 106729908 106729908 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 106729908 106729908 G A SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known silent c.1059 p.V353 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 80 0 0 78 7 8.23529 TBX5 0 genome.wustl.edu 37 12 114793594 114793594 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 114793594 114793594 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1300 p.P434S 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 37 0 0 28 8 22.2222 ABCC9 0 genome.wustl.edu 37 12 22069960 22069960 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 22069960 22069960 T G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.484 p.I162L 0.000 NULL 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 147 0 0 167 19 10.2151 LINC00477 0 genome.wustl.edu 37 12 24737079 24737079 + RNA SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 24737079 24737079 C T SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors LINC00477 HGNC ENSG00000197503 99 0 0 119 18 13.1387 LRRK2 0 genome.wustl.edu 37 12 40626149 40626149 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 40626149 40626149 A T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.311 p.D104V 0.991 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 72 0 0 70 6 7.89474 CCND2 0 genome.wustl.edu 37 12 4409052 4409052 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 4409052 4409052 G T SNP CCND2 ENST00000261254 human ensembl 74_37 +1 known missense c.747 p.Q249H 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND2 HGNC ENSG00000118971 84 0 0 58 12 17.1429 KMT2D 0 genome.wustl.edu 37 12 49425038 49425038 + Nonsense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 49425038 49425038 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.13450 p.R4484* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 91 0 0 109 14 11.3821 ERBB3 0 genome.wustl.edu 37 12 56482393 56482393 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 56482393 56482393 A C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.941 p.K314T 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_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 203 0 0 219 32 12.749 LRP1 0 genome.wustl.edu 37 12 57605026 57605026 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 57605026 57605026 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.12984 p.C4328 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 63 0 0 50 18 26.4706 USP5 0 genome.wustl.edu 37 12 6973267 6973267 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 6973267 6973267 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.2152 p.A718T 0.994 pfam_Peptidase_C19/C67,superfamily_UBA-like,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 142 0 0 140 16 10.2564 PEX5 0 genome.wustl.edu 37 12 7362389 7362389 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 7362389 7362389 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known silent c.1716 p.R572 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 66 0 0 73 4 5.19481 PPFIA2 0 genome.wustl.edu 37 12 81732996 81732996 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 12 81732996 81732996 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known silent c.2511 p.L837 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 130 0 0 129 14 9.79021 LIG4 0 genome.wustl.edu 37 13 108861005 108861005 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 13 108861005 108861005 C T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.2612 p.R871H 0.908 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,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_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 83 0 0 78 9 10.3448 SLITRK6 0 genome.wustl.edu 37 13 86370491 86370491 + Missense_Mutation SNP T T A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 13 86370491 86370491 T A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.153 p.K51N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 141 0 0 204 11 5.11628 SLITRK5 0 genome.wustl.edu 37 13 88328927 88328927 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 13 88328927 88328927 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1284 p.D428 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 52 0 0 60 11 15.493 GPR132 0 genome.wustl.edu 37 14 105517676 105517676 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 14 105517676 105517676 G A SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known silent c.798 p.A266 0.000 pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 71 0 0 61 4 6.15385 DCAF11 0 genome.wustl.edu 37 14 24587663 24587663 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 14 24587663 24587663 G A SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 106 0 0 84 14 14.2857 TRIM9 0 genome.wustl.edu 37 14 51561035 51561035 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 14 51561035 51561035 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.623 p.R208H 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 38 0 0 42 7 14.2857 NID2 0 genome.wustl.edu 37 14 52535485 52535485 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 14 52535485 52535485 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known silent c.228 p.Y76 0.995 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 75 0 0 58 11 15.942 ABCD4 0 genome.wustl.edu 37 14 74764652 74764652 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 14 74764652 74764652 G A SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.406 p.R136W 0.987 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_Peroxi_TM,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 ABCD4 HGNC ENSG00000119688 47 0 0 36 6 14.2857 GABRG3 0 genome.wustl.edu 37 15 27271924 27271924 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 15 27271924 27271924 G A SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.226 p.D76N 0.997 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 21 0 0 20 6 23.0769 APBA2 0 genome.wustl.edu 37 15 29346438 29346438 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 15 29346438 29346438 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.351 p.N117 0.991 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 100 0 0 104 18 14.7541 INO80 0 genome.wustl.edu 37 15 41275164 41275164 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 15 41275164 41275164 C T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.4349 p.R1450Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 89 0 0 87 9 9.375 RAB27A 0 genome.wustl.edu 37 15 55516100 55516100 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 15 55516100 55516100 C T SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.454 p.A152T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_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_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 208 0 0 235 26 9.96169 MPV17L 0 genome.wustl.edu 37 16 15501819 15501819 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 16 15501819 15501819 A G SNP MPV17L ENST00000287594 human ensembl 74_37 +1 known missense c.370 p.M124V 0.916 NULL NULL - no_errors MPV17L HGNC ENSG00000156968 69 0 0 71 8 10.1266 SCNN1G 0 genome.wustl.edu 37 16 23221166 23221166 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 16 23221166 23221166 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.1173 p.L391 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 55 0 0 61 5 7.57576 MEFV 0 genome.wustl.edu 37 16 3293377 3293377 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 16 3293377 3293377 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.2110 p.V704I 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 129 0 0 112 12 9.67742 IRX5 0 genome.wustl.edu 37 16 54966567 54966567 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 16 54966567 54966567 G A SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.407 p.R136H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 133 0 0 97 22 18.4874 CHST5 0 genome.wustl.edu 37 16 75563598 75563598 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 16 75563598 75563598 C T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.703 p.V235M 0.996 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 68 0 0 89 11 11 DNAH9 0 genome.wustl.edu 37 17 11583146 11583146 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 11583146 11583146 C A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.3426 p.F1142L 0.689 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 DNAH9 HGNC ENSG00000007174 136 0 0 145 9 5.84416 POLDIP2 0 genome.wustl.edu 37 17 26680025 26680025 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 26680025 26680025 C T SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known missense c.532 p.E178K 1.000 superfamily_Hemimethylated_DNA-bd_dom pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 29 0 0 20 2 9.09091 GIT1 0 genome.wustl.edu 37 17 27903635 27903635 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 27903635 27903635 G A SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known silent c.1312 p.L438 1.000 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 61 0 0 54 10 15.625 ERBB2 0 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 37880261 37880261 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2305 p.D769Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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_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 ERBB2 HGNC ENSG00000141736 34 0 0 32 5 13.5135 STAT3 0 genome.wustl.edu 37 17 40474481 40474481 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 40474481 40474481 G A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known silent c.1920 p.Y640 0.998 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 184 0 0 201 12 5.6338 ABCC3 0 genome.wustl.edu 37 17 48753410 48753410 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 48753410 48753410 C T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.3026 p.S1009F 0.001 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 45 0 0 42 5 10.6383 SKA2 0 genome.wustl.edu 37 17 57232423 57232423 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 57232423 57232423 T C SNP SKA2 ENST00000583976 human ensembl 74_37 -1 known missense c.22 p.N8D 0.012 NULL NULL - no_errors SKA2 HGNC ENSG00000182628 125 0 0 137 29 17.4699 LOC146880 0 genome.wustl.edu 37 17 62758085 62758085 + RNA SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 62758085 62758085 A C SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 100 0 0 104 7 6.30631 CEP112 0 genome.wustl.edu 37 17 64092380 64092380 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 64092380 64092380 G A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.757 p.R253C 0.999 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 111 0 0 101 6 5.60748 AATK 0 genome.wustl.edu 37 17 79094804 79094804 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 17 79094804 79094804 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.2932 p.R978W 0.005 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 AATK HGNC ENSG00000181409 15 0 0 15 6 28.5714 NFATC1 0 genome.wustl.edu 37 18 77170747 77170747 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 18 77170747 77170747 A C SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.472 p.S158R 0.868 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 65 0 0 55 7 11.2903 OR7A10 0 genome.wustl.edu 37 19 14952325 14952325 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 14952325 14952325 C T SNP OR7A10 ENST00000248058 human ensembl 74_37 -1 known missense c.365 p.R122Q 0.852 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A10 HGNC ENSG00000127515 79 0 0 67 13 16.25 RAB8A 0 genome.wustl.edu 37 19 16243123 16243123 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 16243123 16243123 G A SNP RAB8A ENST00000586682 human ensembl 74_37 +1 novel missense c.613 p.A205T 0.988 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB8A HGNC ENSG00000167461 24 0 0 26 3 10.3448 JAK3 0 genome.wustl.edu 37 19 17951085 17951085 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 17951085 17951085 C T SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1208 p.R403H 0.961 smart_SH2,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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 38 0 0 35 5 12.5 KMT2B 0 genome.wustl.edu 37 19 36210704 36210704 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 36210704 36210704 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.455 p.R152Q 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 208 0 0 167 23 12.1053 ZFP30 0 genome.wustl.edu 37 19 38126845 38126845 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 38126845 38126845 G A SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.597 p.A199 0.002 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 ZFP30 HGNC ENSG00000120784 136 0 0 124 10 7.46269 ENSG00000255730 0 genome.wustl.edu 37 19 41916731 41916731 + RNA SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 41916731 41916731 G A SNP ENSG00000255730 ENST00000604424 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-435M10.3 Clone_based_vega_gene ENSG00000255730 108 0 0 123 13 9.55882 RRAS 0 genome.wustl.edu 37 19 50140101 50140101 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 50140101 50140101 G A SNP RRAS ENST00000246792 human ensembl 74_37 -1 known silent c.324 p.F108 0.767 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,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 RRAS HGNC ENSG00000126458 116 0 0 90 8 8.16327 DUS3L 0 genome.wustl.edu 37 19 5789320 5789320 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 19 5789320 5789320 G A SNP DUS3L ENST00000590110 human ensembl 74_37 -1 known missense c.596 p.P199L 0.001 NULL NULL - no_errors DUS3L HGNC ENSG00000141994 30 0 0 32 5 13.5135 ANAPC1 0 genome.wustl.edu 37 2 112566679 112566679 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 112566679 112566679 C T SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.3677 p.R1226Q 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 97 0 0 111 7 5.9322 FBLN7 0 genome.wustl.edu 37 2 112940369 112940369 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 112940369 112940369 C T SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known silent c.672 p.D224 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,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 - no_errors FBLN7 HGNC ENSG00000144152 73 0 0 70 4 5.40541 WDSUB1 0 genome.wustl.edu 37 2 160128292 160128292 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 160128292 160128292 A G SNP WDSUB1 ENST00000359774 human ensembl 74_37 -1 known missense c.691 p.Y231H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 35 0 0 31 4 11.4286 ZDBF2 0 genome.wustl.edu 37 2 207170039 207170039 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 207170039 207170039 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.787 p.R263C 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 21 0 0 15 3 16.6667 ADAM23 0 genome.wustl.edu 37 2 207413054 207413054 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 207413054 207413054 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known silent c.843 p.L281 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 71 0 0 81 10 10.989 SLC30A3 0 genome.wustl.edu 37 2 27481713 27481713 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 27481713 27481713 G A SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known missense c.185 p.P62L 0.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 57 0 0 32 13 28.8889 FSHR 0 genome.wustl.edu 37 2 49195873 49195873 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 49195873 49195873 C T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.818 p.S273N 1.000 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 67 0 0 64 19 22.8916 TET3 0 genome.wustl.edu 37 2 74300717 74300717 + Silent SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 2 74300717 74300717 T C SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.2131 p.L711 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 21 0 0 21 3 12.5 FLRT3 0 genome.wustl.edu 37 20 14306206 14306206 + Silent SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 20 14306206 14306206 T G SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.1947 p.S649 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 143 0 0 174 17 8.90052 LBP 0 genome.wustl.edu 37 20 36999964 36999964 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 20 36999964 36999964 A G SNP LBP ENST00000217407 human ensembl 74_37 +1 known missense c.1258 p.N420D 0.972 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 29 0 0 31 4 11.4286 SLC32A1 0 genome.wustl.edu 37 20 37353478 37353478 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 20 37353478 37353478 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.111 p.T37 0.708 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 36 0 0 52 7 11.8644 CHGB 0 genome.wustl.edu 37 20 5903072 5903072 + Missense_Mutation SNP A A C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 20 5903072 5903072 A C SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.282 p.E94D 0.007 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 55 0 0 64 8 11.1111 MCM8 0 genome.wustl.edu 37 20 5948582 5948582 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 20 5948582 5948582 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known silent c.1134 p.K378 0.067 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 100 0 0 119 13 9.84848 DIP2A 0 genome.wustl.edu 37 21 47918694 47918694 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 21 47918694 47918694 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.603 p.P201 0.202 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 77 0 0 71 6 7.79221 EP300 0 genome.wustl.edu 37 22 41566511 41566511 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 22 41566511 41566511 T G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4388 p.L1463R 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 80 0 0 79 6 7.05882 MLC1 0 genome.wustl.edu 37 22 50515884 50515884 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 22 50515884 50515884 C T SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known silent c.471 p.A157 0.049 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 49 0 0 46 5 9.80392 NUP210 0 genome.wustl.edu 37 3 13395089 13395089 + Missense_Mutation SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 13395089 13395089 C G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.2593 p.E865Q 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 65 0 0 67 8 10.6667 PIK3CA 0 genome.wustl.edu 37 3 178916639 178916639 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 178916639 178916639 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.26 p.E9G 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 76 0 0 60 10 14.2857 MCF2L2 0 genome.wustl.edu 37 3 182925454 182925454 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 182925454 182925454 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.2654 p.R885Q 0.913 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 114 1 0.869565 108 19 14.9606 LINC00969 0 genome.wustl.edu 37 3 195391115 195391115 + RNA SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 195391115 195391115 T C SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 24 0 0 20 3 13.0435 CNTN4 0 genome.wustl.edu 37 3 2613203 2613203 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 2613203 2613203 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.16 p.E6K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 49 0 0 50 11 18.0328 NEK10 0 genome.wustl.edu 37 3 27152780 27152780 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 27152780 27152780 G A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.1408 p.H470Y 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 39 0 0 45 9 16.6667 DCLK3 0 genome.wustl.edu 37 3 36779379 36779379 + Silent SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 36779379 36779379 T G SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known silent c.772 p.R258 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 DCLK3 HGNC ENSG00000163673 135 1 0.735294 157 17 9.77011 IL17RD 0 genome.wustl.edu 37 3 57136585 57136585 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 3 57136585 57136585 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.901 p.V301M 0.971 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 41 0 0 40 4 9.09091 PPARGC1A 0 genome.wustl.edu 37 4 23803389 23803389 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 4 23803389 23803389 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.2257 p.R753C 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 60 0 0 50 6 10.7143 LPHN3 0 genome.wustl.edu 37 4 62903554 62903554 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 4 62903554 62903554 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.3670 p.R1224C 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 82 0 0 76 7 8.43373 TECRL 0 genome.wustl.edu 37 4 65188413 65188413 + Nonsense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 4 65188413 65188413 C T SNP TECRL ENST00000381210 human ensembl 74_37 -1 known nonsense c.429 p.W143* 1.000 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 59 0 0 45 6 11.7647 PCDHB4 0 genome.wustl.edu 37 5 140501880 140501880 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 140501880 140501880 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.300 p.P100 0.006 pfam_Cadherin_N pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 59 0 0 72 9 11.1111 MED7 0 genome.wustl.edu 37 5 156565878 156565878 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 156565878 156565878 T C SNP MED7 ENST00000286317 human ensembl 74_37 -1 known missense c.565 p.M189V 0.999 NULL pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 122 0 0 105 22 17.3228 GABRA1 0 genome.wustl.edu 37 5 161317942 161317942 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 161317942 161317942 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.742 p.R248G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 91 0 0 78 6 7.14286 FGFR4 0 genome.wustl.edu 37 5 176523169 176523169 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 176523169 176523169 A G SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1933 p.K645E 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 46 0 0 72 9 11.1111 PRDM9 0 genome.wustl.edu 37 5 23524471 23524471 + Missense_Mutation SNP G G C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 23524471 23524471 G C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.979 p.E327Q 0.999 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 72 0 0 58 7 10.7692 RXFP3 0 genome.wustl.edu 37 5 33937051 33937051 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 33937051 33937051 G T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.206 p.G69V 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 61 0 0 81 14 14.7368 OXCT1 0 genome.wustl.edu 37 5 41762218 41762218 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 41762218 41762218 C T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.1333 p.A445T 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 146 0 0 152 27 15.0838 MCTP1 0 genome.wustl.edu 37 5 94224655 94224655 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 5 94224655 94224655 T C SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.1862 p.N621S 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 89 0 0 81 12 12.9032 GPR6 0 genome.wustl.edu 37 6 110300581 110300581 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 110300581 110300581 A G SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.311 p.E104G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 120 0 0 121 23 15.9722 ENPP1 0 genome.wustl.edu 37 6 132176074 132176074 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 132176074 132176074 C T SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.626 p.T209M 0.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 69 0 0 73 5 6.41026 OR2B2 0 genome.wustl.edu 37 6 27879418 27879418 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 27879418 27879418 C T SNP OR2B2 ENST00000303324 human ensembl 74_37 -1 known missense c.680 p.R227K 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 91 0 0 98 17 14.7826 OR2B2 0 genome.wustl.edu 37 6 27879505 27879505 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 27879505 27879505 T G SNP OR2B2 ENST00000303324 human ensembl 74_37 -1 known missense c.593 p.E198A 0.149 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 109 0 0 96 11 10.2804 ZNF311 0 genome.wustl.edu 37 6 28963041 28963041 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 28963041 28963041 C T SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.1738 p.E580K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 89 0 0 99 6 5.71429 DNAH8 0 genome.wustl.edu 37 6 38810483 38810483 + Missense_Mutation SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 38810483 38810483 T G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.3998 p.L1333W 0.985 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 DNAH8 HGNC ENSG00000124721 75 0 0 80 8 9.09091 RRAGD 0 genome.wustl.edu 37 6 90097256 90097256 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 90097256 90097256 T C SNP RRAGD ENST00000369415 human ensembl 74_37 -1 known missense c.202 p.M68V 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 331 0 0 348 46 11.6751 MDN1 0 genome.wustl.edu 37 6 90428148 90428148 + Missense_Mutation SNP G G C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 90428148 90428148 G C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.6520 p.L2174V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 79 0 0 95 6 5.94059 MUC17 0 genome.wustl.edu 37 7 100684303 100684303 + Silent SNP T T G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 100684303 100684303 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.9606 p.T3202 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 512 0 0 478 63 11.6451 CAV1 0 genome.wustl.edu 37 7 116166604 116166604 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 116166604 116166604 G A SNP CAV1 ENST00000341049 human ensembl 74_37 +1 known missense c.56 p.R19Q 1.000 NULL pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 65 0 0 71 6 7.79221 ANKRD7 0 genome.wustl.edu 37 7 117876121 117876121 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 117876121 117876121 C T SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known silent c.555 p.A185 0.012 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 72 0 0 90 11 10.8911 CPA4 0 genome.wustl.edu 37 7 129962450 129962450 + Silent SNP C C G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 129962450 129962450 C G SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known silent c.1200 p.P400 0.946 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 136 0 0 165 9 5.17241 EXOC4 0 genome.wustl.edu 37 7 132990651 132990651 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 132990651 132990651 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known silent c.492 p.L164 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 62 0 0 64 7 9.85915 CHPF2 0 genome.wustl.edu 37 7 150932532 150932532 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 150932532 150932532 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.662 p.R221Q 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 118 0 0 131 10 7.0922 RAPGEF5 0 genome.wustl.edu 37 7 22197496 22197496 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 22197496 22197496 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1075 p.D359N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 36 0 0 47 7 12.963 EIF3B 0 genome.wustl.edu 37 7 2402282 2402282 + Missense_Mutation SNP A A G TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 2402282 2402282 A G SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.695 p.Y232C 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 71 0 0 86 6 6.52174 CREB5 0 genome.wustl.edu 37 7 28857755 28857755 + Missense_Mutation SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 28857755 28857755 G T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known missense c.1322 p.C441F 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 96 0 0 106 8 7.01754 PRKAR1B 0 genome.wustl.edu 37 7 635929 635929 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 7 635929 635929 C T SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known missense c.562 p.G188R 0.174 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 PRKAR1B HGNC ENSG00000188191 55 0 0 52 5 8.77193 COL22A1 0 genome.wustl.edu 37 8 139833571 139833571 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 139833571 139833571 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.1053 p.F351 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 146 0 0 121 22 15.3846 MSR1 0 genome.wustl.edu 37 8 15978038 15978038 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 15978038 15978038 A T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.1111 p.W371R 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 115 0 0 151 12 7.36196 MIR320A 0 genome.wustl.edu 37 8 22102541 22102541 + RNA SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 22102541 22102541 C T SNP MIR320A ENST00000385302 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR320A HGNC ENSG00000208037 66 0 0 98 24 19.6721 SNTG1 0 genome.wustl.edu 37 8 51449257 51449257 + Missense_Mutation SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 51449257 51449257 C T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.569 p.S190L 0.983 smart_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 133 0 0 164 28 14.5833 SLC26A7 0 genome.wustl.edu 37 8 92330586 92330586 + Missense_Mutation SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 92330586 92330586 C A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.620 p.S207Y 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 113 0 0 120 9 6.97674 KCNS2 0 genome.wustl.edu 37 8 99440584 99440584 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 8 99440584 99440584 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.377 p.R126H 1.000 smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 77 0 0 76 5 6.17284 ASTN2 0 genome.wustl.edu 37 9 119976958 119976958 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 119976958 119976958 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.694 p.R232C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 39 0 0 44 7 13.7255 SEC16A 0 genome.wustl.edu 37 9 139336112 139336112 + RNA SNP C C A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 139336112 139336112 C A SNP SEC16A ENST00000467838 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEC16A HGNC ENSG00000148396 14 0 0 15 3 16.6667 SEC16A 0 genome.wustl.edu 37 9 139369132 139369132 + Missense_Mutation SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 139369132 139369132 T C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.2936 p.N979S 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 33 0 0 42 7 14.2857 SH3GL2 0 genome.wustl.edu 37 9 17795588 17795588 + Missense_Mutation SNP A A T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 17795588 17795588 A T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known missense c.906 p.E302D 0.995 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 44 0 0 37 8 17.7778 DDX58 0 genome.wustl.edu 37 9 32457294 32457294 + Missense_Mutation SNP G G C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 32457294 32457294 G C SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.2604 p.N868K 0.011 pfam_RIG-I_C-RD pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 105 0 0 126 13 9.35252 DNAJB5 0 genome.wustl.edu 37 9 34993304 34993304 + Missense_Mutation SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 34993304 34993304 G A SNP DNAJB5 ENST00000454002 human ensembl 74_37 +1 known missense c.290 p.R97Q 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 129 0 0 123 17 12.1429 NTRK2 0 genome.wustl.edu 37 9 87342847 87342847 + Missense_Mutation SNP T T A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 9 87342847 87342847 T A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1132 p.F378I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 55 0 0 71 4 5.33333 COL4A6 0 genome.wustl.edu 37 X 107412792 107412792 + Silent SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 107412792 107412792 T C SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.3627 p.K1209 0.939 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 31 0 0 18 8 30.7692 ZNF280C 0 genome.wustl.edu 37 X 129339386 129339386 + Silent SNP G G T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 129339386 129339386 G T SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known silent c.2046 p.G682 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 28 0 0 21 10 32.2581 ASMTL 0 genome.wustl.edu 37 X 1522378 1522378 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 1522378 1522378 G A SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1650 p.A550 0.034 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 53 0 0 61 9 12.8571 MXRA5 0 genome.wustl.edu 37 X 3227994 3227994 + Silent SNP G G A TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 3227994 3227994 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.8250 p.T2750 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 37 0 0 28 16 36.3636 GRIPAP1 0 genome.wustl.edu 37 X 48847497 48847497 + Silent SNP T T C TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 48847497 48847497 T C SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known silent c.483 p.E161 0.930 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 23 0 0 25 3 10.7143 CLCN5 0 genome.wustl.edu 37 X 49855541 49855541 + Silent SNP C C T TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 49855541 49855541 C T SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known silent c.2358 p.N786 0.960 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-5 - no_errors CLCN5 HGNC ENSG00000171365 14 0 0 19 3 13.6364 ARID1B 0 genome.wustl.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac 6 157100396 157100397 - CGC INS ARID1B ENST00000367148 human ensembl 74_37 +1 known in_frame_ins c.1333_1334 p.449in_frame_insP 1.000:1.000 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 ARID1B HGNC ENSG00000049618 8 0 0 19 4 17.3913 HUWE1 0 genome.wustl.edu 37 X 53661171 53661186 + Splice_Site DEL CCCAAAGAGTTACTTA CCCAAAGAGTTACTTA - TCGA-BR-8381-01A-11D-2394-08 TCGA-BR-8381-10A-01D-2394-08 CCCAAAGAGTTACTTA CCCAAAGAGTTACTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6738c83-7b52-4224-846a-67bd085aaab8 69e6cf8a-eb68-478c-a849-51fb2f8736ac X 53661171 53661186 CCCAAAGAGTTACTTA - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known splice_site_del c.567+2_567+1 e5+2 0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.001:0.003:0.977:1.000:1.000:1.000:1.000 - - - no_errors HUWE1 HGNC ENSG00000086758 48 0 0 33 8 19.5122