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 PRMT6 0 genome.wustl.edu 37 1 107599821 107599821 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 107599821 107599821 C A SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known missense c.484 p.L162M 0.952 pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 110 0 0 117 11 8.59375 SV2A 0 genome.wustl.edu 37 1 149885086 149885086 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 149885086 149885086 G A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.307 p.R103W 0.994 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 222 0 0 166 74 30.8333 HRNR 0 genome.wustl.edu 37 1 152193722 152193722 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 152193722 152193722 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.383 p.S128N 0.056 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 121 1 0.819672 105 32 23.3577 SMG5 0 genome.wustl.edu 37 1 156236063 156236063 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 156236063 156236063 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1364 p.R455H 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 115 0 0 94 37 28.2443 OR10J3 0 genome.wustl.edu 37 1 159283850 159283850 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 159283850 159283850 G T SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.600 p.N200K 0.818 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 OR10J3 HGNC ENSG00000196266 67 0 0 78 11 12.3596 DUSP27 0 genome.wustl.edu 37 1 167088640 167088640 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 167088640 167088640 G T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.592 p.D198Y 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 53 0 0 47 15 24.1935 KIFAP3 0 genome.wustl.edu 37 1 170007467 170007467 + Nonsense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 170007467 170007467 G A SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known nonsense c.481 p.R161* 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 81 0 0 72 18 20 ENSG00000226526 0 genome.wustl.edu 37 1 17331390 17331390 + RNA SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 17331390 17331390 C A SNP ENSG00000226526 ENST00000446261 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-37C10.3 Clone_based_vega_gene ENSG00000226526 21 0 0 17 7 29.1667 SLC9C2 0 genome.wustl.edu 37 1 173550993 173550993 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 173550993 173550993 G C SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.795 p.F265L 0.997 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 40 0 0 38 6 13.6364 BRINP3 0 genome.wustl.edu 37 1 190067604 190067604 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 190067604 190067604 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1845 p.G615 0.926 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 339 0 0 312 76 19.5876 CHI3L1 0 genome.wustl.edu 37 1 203148899 203148899 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 203148899 203148899 A G SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.1001 p.V334A 0.429 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 79 0 0 86 8 8.51064 NFASC 0 genome.wustl.edu 37 1 204955199 204955199 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 204955199 204955199 T C SNP NFASC ENST00000367172 human ensembl 74_37 +1 known silent c.2748 p.D916 0.999 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 54 0 0 42 8 16 DISP1 0 genome.wustl.edu 37 1 223164006 223164006 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 223164006 223164006 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.579 p.L193 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 125 0 0 160 12 6.97674 TP53BP2 0 genome.wustl.edu 37 1 223983962 223983962 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 223983962 223983962 T C SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.2279 p.Y760C 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 97 0 0 75 43 36.4407 ACTN2 0 genome.wustl.edu 37 1 236911005 236911005 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 236911005 236911005 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1445 p.R482Q 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 32 0 0 35 11 23.913 OR2M7 0 genome.wustl.edu 37 1 248487101 248487101 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 248487101 248487101 A G SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.770 p.F257S 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 116 0 0 69 60 46.5116 ARID1A 0 genome.wustl.edu 37 1 27100377 27100377 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 27100377 27100377 A C SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.4089 p.Q1363H 0.999 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 200 0 0 175 20 10.2564 OSCP1 0 genome.wustl.edu 37 1 36898072 36898072 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 36898072 36898072 G A SNP OSCP1 ENST00000235532 human ensembl 74_37 -1 known missense c.386 p.S129F 1.000 pfam_OSCP1 pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 125 0 0 55 54 49.5413 PODN 0 genome.wustl.edu 37 1 53535676 53535676 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 53535676 53535676 C T SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.293 p.P98L 0.799 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 11 0 0 21 3 12.5 SGIP1 0 genome.wustl.edu 37 1 67195054 67195054 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 67195054 67195054 A C SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1943 p.N648T 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 112 0 0 56 84 60 TTLL7 0 genome.wustl.edu 37 1 84373332 84373332 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 84373332 84373332 C T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1799 p.R600H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 29 0 0 19 14 42.4242 AGRN 0 genome.wustl.edu 37 1 980791 980791 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 980791 980791 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.2424 p.A808 0.791 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 26 0 0 26 10 27.7778 SMC3 0 genome.wustl.edu 37 10 112328746 112328746 + Silent SNP C C G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 112328746 112328746 C G SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known silent c.66 p.P22 0.999 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 61 0 0 87 15 14.7059 ADRB1 0 genome.wustl.edu 37 10 115804636 115804636 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 115804636 115804636 C T SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.745 p.R249C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 45 0 0 60 7 10.4478 ABLIM1 0 genome.wustl.edu 37 10 116225532 116225532 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 116225532 116225532 T C SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1366 p.I456V 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 244 0 0 201 131 39.4578 KCNK18 0 genome.wustl.edu 37 10 118957007 118957007 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 118957007 118957007 T G SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.8 p.V3G 0.865 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 62 0 0 85 13 13.2653 CUBN 0 genome.wustl.edu 37 10 17026238 17026238 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 17026238 17026238 T C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4391 p.Q1464R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 58 0 0 51 7 12.069 ANKRD30A 0 genome.wustl.edu 37 10 37505290 37505290 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 37505290 37505290 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known silent c.2883 p.K961 0.146 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 40 0 0 38 8 17.3913 C10orf71 0 genome.wustl.edu 37 10 50532585 50532585 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 10 50532585 50532585 C T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.1995 p.T665 0.002 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 33 0 0 37 4 9.7561 PDGFD 0 genome.wustl.edu 37 11 103870925 103870925 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 103870925 103870925 G A SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known silent c.183 p.N61 0.294 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 132 0 0 124 35 22.0126 NLRX1 0 genome.wustl.edu 37 11 119052817 119052817 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 119052817 119052817 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2369 p.P790L 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 260 0 0 204 62 23.3083 ARHGEF12 0 genome.wustl.edu 37 11 120335951 120335951 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 120335951 120335951 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.2562 p.S854 0.944 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 74 0 0 74 11 12.9412 DCDC1 0 genome.wustl.edu 37 11 31115605 31115605 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 31115605 31115605 T G SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2110 p.I704L 0.999 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 130 0 0 143 14 8.9172 ARFGAP2 0 genome.wustl.edu 37 11 47198097 47198097 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 47198097 47198097 C T SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 52 0 0 25 49 66.2162 NDUFS3 0 genome.wustl.edu 37 11 47602281 47602281 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 47602281 47602281 C T SNP NDUFS3 ENST00000534208 human ensembl 74_37 +1 putative missense c.338 p.P113L 0.001 NULL NULL - no_errors NDUFS3 HGNC ENSG00000213619 16 0 0 19 5 20.8333 OR51F2 0 genome.wustl.edu 37 11 4842656 4842656 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 4842656 4842656 C T SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.41 p.S14L 0.290 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 280 0 0 275 51 15.6442 OR8H2 0 genome.wustl.edu 37 11 55873412 55873412 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 55873412 55873412 A C SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.894 p.K298N 0.126 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 99 0 0 95 23 19.4915 SLC22A25 0 genome.wustl.edu 37 11 62933530 62933530 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 11 62933530 62933530 A G SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.1271 p.I424T 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 40 0 0 17 24 58.5366 TULP3 0 genome.wustl.edu 37 12 3040238 3040238 + Missense_Mutation SNP A A T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 3040238 3040238 A T SNP TULP3 ENST00000448120 human ensembl 74_37 +1 known missense c.528 p.Q176H 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 112 0 0 67 26 27.957 ADAMTS20 0 genome.wustl.edu 37 12 43822058 43822058 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 43822058 43822058 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.3931 p.G1311R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 102 0 0 62 29 31.8681 IKZF4 0 genome.wustl.edu 37 12 56428541 56428541 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 56428541 56428541 T C SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.1184 p.L395P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 83 0 0 41 26 38.806 VWF 0 genome.wustl.edu 37 12 6161886 6161886 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 6161886 6161886 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.2009 p.R670H 1.000 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 37 0 0 21 9 30 GRIP1 0 genome.wustl.edu 37 12 66742840 66742840 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 66742840 66742840 C T SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.3346 p.G1116S 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 212 0 0 153 18 10.5263 F7 0 genome.wustl.edu 37 13 113761182 113761182 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 13 113761182 113761182 G A SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.88 p.G30R 0.167 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 16 0 0 21 5 19.2308 XPO4 0 genome.wustl.edu 37 13 21357924 21357924 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 13 21357924 21357924 C A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.3393 p.M1131I 1.000 NULL superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 131 0 0 110 7 5.98291 OLFM4 0 genome.wustl.edu 37 13 53624159 53624159 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 13 53624159 53624159 C T SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.786 p.L262 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 100 0 0 194 29 13.0045 CYP46A1 0 genome.wustl.edu 37 14 100165870 100165870 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 14 100165870 100165870 G C SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.350 p.G117A 0.982 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 207 0 0 141 12 7.84314 YY1 0 genome.wustl.edu 37 14 100743827 100743827 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 14 100743827 100743827 G A SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.1135 p.G379R 1.000 pirsf_TF_Yin_yang,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 88 0 0 56 10 15.1515 OR4M2 0 genome.wustl.edu 37 15 22369460 22369460 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 15 22369460 22369460 A G SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative silent c.885 p.E295 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 67 0 0 52 17 24.6377 NDN 0 genome.wustl.edu 37 15 23931667 23931667 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 15 23931667 23931667 T G SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.698 p.K233T 0.339 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 49 0 0 29 6 17.1429 DUOX2 0 genome.wustl.edu 37 15 45386811 45386811 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 15 45386811 45386811 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4474 p.R1492C 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 43 0 0 38 4 9.52381 DTWD1 0 genome.wustl.edu 37 15 49924413 49924413 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 15 49924413 49924413 G T SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.322 p.A108S 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 58 0 0 51 10 16.3934 SEMA7A 0 genome.wustl.edu 37 15 74709712 74709712 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 15 74709712 74709712 C T SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.625 p.E209K 0.126 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 196 0 0 170 40 19.0476 ABCC1 0 genome.wustl.edu 37 16 16225674 16225674 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 16225674 16225674 C T SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.3878 p.P1293L 0.869 superfamily_P-loop_NTPase,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 ABCC1 HGNC ENSG00000103222 39 0 0 22 8 26.6667 IGFALS 0 genome.wustl.edu 37 16 1841399 1841399 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 1841399 1841399 A G SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known silent c.1134 p.L378 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 31 0 0 12 15 55.5556 SBK1 0 genome.wustl.edu 37 16 28330503 28330503 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 28330503 28330503 C T SNP SBK1 ENST00000341901 human ensembl 74_37 +1 known silent c.414 p.D138 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom - no_errors SBK1 HGNC ENSG00000188322 65 0 0 32 10 23.8095 PKMYT1 0 genome.wustl.edu 37 16 3025809 3025809 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 3025809 3025809 C T SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.383 p.R128H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 54 0 0 34 6 15 TANGO6 0 genome.wustl.edu 37 16 68961816 68961816 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 68961816 68961816 A G SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.2473 p.T825A 0.001 pfam_DUF2435,superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 24 0 0 21 8 27.5862 ENSG00000226145 0 genome.wustl.edu 37 17 16722630 16722630 + RNA SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 16722630 16722630 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.625 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 51 0 0 30 23 43.3962 MYO15A 0 genome.wustl.edu 37 17 18065937 18065937 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 18065937 18065937 T G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.9556 p.L3186V 0.003 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 43 0 0 12 20 62.5 SNORD3B-2 0 genome.wustl.edu 37 17 18967279 18967279 + RNA SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 18967279 18967279 A C SNP SNORD3B-2 ENST00000364880 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 64 0 0 26 9 25.7143 NLK 0 genome.wustl.edu 37 17 26495496 26495496 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 26495496 26495496 G A SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.860 p.R287K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 174 0 0 216 56 20.5882 PIGS 0 genome.wustl.edu 37 17 26888484 26888484 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 26888484 26888484 T G SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.632 p.D211A 1.000 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 44 0 0 41 21 33.871 NEK8 0 genome.wustl.edu 37 17 27064414 27064414 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 27064414 27064414 A G SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.709 p.S237G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 52 0 0 38 25 39.6825 PNMT 0 genome.wustl.edu 37 17 37826527 37826527 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 37826527 37826527 G A SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.734 p.R245H 0.000 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 19 0 0 70 14 16.6667 KRT13 0 genome.wustl.edu 37 17 39661551 39661551 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 39661551 39661551 A G SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known silent c.252 p.G84 0.054 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 25 0 0 47 17 26.5625 TTC25 0 genome.wustl.edu 37 17 40113416 40113416 + RNA SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 40113416 40113416 A G SNP TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC ENSG00000204815 8 0 0 17 5 22.7273 MPP3 0 genome.wustl.edu 37 17 41886367 41886367 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 41886367 41886367 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.1538 p.T513M 0.885 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 47 0 0 36 17 32.0755 CSH1 0 genome.wustl.edu 37 17 61972707 61972707 + Silent SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 61972707 61972707 T G SNP CSH1 ENST00000329882 human ensembl 74_37 -1 putative silent c.582 p.S194 0.110 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 110 0 0 135 15 10 TP53 0 genome.wustl.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 7577129 7577129 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.809 p.F270S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 19 0 0 3 9 75 ENPP7 0 genome.wustl.edu 37 17 77708918 77708918 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 77708918 77708918 A G SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known missense c.476 p.K159R 0.980 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 89 0 0 69 4 5.47945 DLGAP1 0 genome.wustl.edu 37 18 3534395 3534395 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 18 3534395 3534395 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.2276 p.T759M 0.667 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 45 0 0 33 7 17.5 DCC 0 genome.wustl.edu 37 18 51013269 51013269 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 18 51013269 51013269 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3839 p.R1280Q 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 143 1 0.694444 98 56 36.3636 CDH7 0 genome.wustl.edu 37 18 63481815 63481815 + Silent SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 18 63481815 63481815 G T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.600 p.P200 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 96 0 0 72 41 36.2832 RDH8 0 genome.wustl.edu 37 19 10132337 10132337 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 10132337 10132337 G A SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.908 p.R303H 0.795 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 80 0 0 45 25 35.7143 ZNF443 0 genome.wustl.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 12541141 12541141 C T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known silent c.1845 p.P615 0.150 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 ZNF443 HGNC ENSG00000180855 51 0 0 73 4 5.19481 CATSPERG 0 genome.wustl.edu 37 19 38851464 38851464 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 38851464 38851464 T C SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.1861 p.Y621H 0.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 18 0 0 10 2 16.6667 ARHGEF1 0 genome.wustl.edu 37 19 42397364 42397364 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 42397364 42397364 G A SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.679 p.E227K 0.989 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 26 0 0 22 3 12 ZNF285 0 genome.wustl.edu 37 19 44891003 44891003 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 44891003 44891003 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.1404 p.S468 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 76 0 0 77 12 13.4831 ZNF285 0 genome.wustl.edu 37 19 44891010 44891010 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 44891010 44891010 G C SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1397 p.A466G 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 83 0 0 75 12 13.7931 ZNF285 0 genome.wustl.edu 37 19 44891043 44891043 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 44891043 44891043 G T SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1364 p.P455Q 0.995 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 ZNF285 HGNC ENSG00000267508 76 0 0 81 13 13.8298 MYBPC2 0 genome.wustl.edu 37 19 50958492 50958492 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 50958492 50958492 C T SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.2142 p.F714 0.947 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 170 0 0 34 73 68.2243 HAS1 0 genome.wustl.edu 37 19 52216712 52216712 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 52216712 52216712 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1726 p.R576W 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 21 0 0 3 10 76.9231 NLRP8 0 genome.wustl.edu 37 19 56490859 56490859 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 56490859 56490859 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.2976 p.A992 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 107 0 0 45 21 31.8182 GPR108 0 genome.wustl.edu 37 19 6735918 6735918 + Splice_Site SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 6735918 6735918 C A SNP GPR108 ENST00000264080 human ensembl 74_37 -1 known splice_site c.291+1 e3+1 1.000 - - - no_errors GPR108 HGNC ENSG00000125734 32 0 0 23 2 8 IL1R2 0 genome.wustl.edu 37 2 102626041 102626041 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 102626041 102626041 C T SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.85 p.R29W 0.626 pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 118 0 0 107 62 36.6864 SNTG2 0 genome.wustl.edu 37 2 1094065 1094065 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 1094065 1094065 C T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.294 p.V98 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 58 0 0 62 8 11.4286 GREB1 0 genome.wustl.edu 37 2 11755365 11755365 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 11755365 11755365 G T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3271 p.A1091S 0.759 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 8 0 0 14 10 41.6667 ZEB2 0 genome.wustl.edu 37 2 145162441 145162441 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 145162441 145162441 C T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 29 0 0 24 16 40 DDX1 0 genome.wustl.edu 37 2 15769793 15769793 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 15769793 15769793 G T SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1943 p.G648V 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 33 0 0 59 6 9.23077 SCN1A 0 genome.wustl.edu 37 2 166854619 166854619 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 166854619 166854619 A G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4405 p.F1469L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 50 0 0 61 36 37.1134 G6PC2 0 genome.wustl.edu 37 2 169761040 169761040 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 169761040 169761040 C T SNP G6PC2 ENST00000282075 human ensembl 74_37 +1 known missense c.244 p.R82C 0.934 NULL NULL - no_errors G6PC2 HGNC ENSG00000152254 308 0 0 353 67 15.9524 TTN 0 genome.wustl.edu 37 2 179469967 179469967 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 179469967 179469967 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46233 p.K15411N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 9 0 0 13 5 27.7778 DNAH7 0 genome.wustl.edu 37 2 196852950 196852950 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 196852950 196852950 T G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.1357 p.S453R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 43 0 0 28 36 56.25 SPATS2L 0 genome.wustl.edu 37 2 201337696 201337696 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 201337696 201337696 A C SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.1292 p.K431T 1.000 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 39 0 0 41 14 25.4545 ADAM23 0 genome.wustl.edu 37 2 207431960 207431960 + Nonsense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 207431960 207431960 C T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known nonsense c.1408 p.R470* 0.912 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 72 0 0 59 44 42.7184 SPAG16 0 genome.wustl.edu 37 2 214215281 214215281 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 214215281 214215281 C A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.674 p.P225Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 55 0 0 74 8 9.7561 TRPM8 0 genome.wustl.edu 37 2 234869689 234869689 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 234869689 234869689 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.1632 p.D544 0.004 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 40 0 0 56 3 5.08475 COL6A3 0 genome.wustl.edu 37 2 238303419 238303419 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 238303419 238303419 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.520 p.A174T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 77 0 0 133 10 6.99301 FBXO11 0 genome.wustl.edu 37 2 48035360 48035360 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 48035360 48035360 G A SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.2681 p.T894I 1.000 pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 63 0 0 79 41 34.1667 SPTLC3 0 genome.wustl.edu 37 20 13140725 13140725 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 13140725 13140725 A C SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1491 p.E497D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 60 0 0 111 66 37.2881 PLK1S1 0 genome.wustl.edu 37 20 21227216 21227216 + RNA SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 21227216 21227216 G A SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLK1S1 HGNC ENSG00000088970 25 0 0 60 5 7.69231 CPXM1 0 genome.wustl.edu 37 20 2779456 2779456 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 2779456 2779456 G A SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.256 p.R86C 0.002 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 124 0 0 207 17 7.58929 PLAGL2 0 genome.wustl.edu 37 20 30785006 30785006 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 30785006 30785006 A C SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known missense c.740 p.L247R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 29 0 0 47 24 33.8028 CSE1L 0 genome.wustl.edu 37 20 47682762 47682762 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 47682762 47682762 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.262 p.D88N 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 56 0 0 120 7 5.51181 MCM3AP 0 genome.wustl.edu 37 21 47695170 47695170 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 21 47695170 47695170 T G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1928 p.E643A 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 33 0 0 23 4 14.8148 ZNF74 0 genome.wustl.edu 37 22 20760724 20760724 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 22 20760724 20760724 C T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known silent c.1401 p.S467 0.951 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 ZNF74 HGNC ENSG00000185252 65 0 0 29 3 9.375 SCARF2 0 genome.wustl.edu 37 22 20780319 20780319 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 22 20780319 20780319 C T SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known silent c.1944 p.S648 0.989 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 26 0 0 13 3 18.75 LZTR1 0 genome.wustl.edu 37 22 21344890 21344890 + RNA SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 22 21344890 21344890 T C SNP LZTR1 ENST00000497716 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LZTR1 HGNC ENSG00000099949 18 0 0 14 16 53.3333 SMTN 0 genome.wustl.edu 37 22 31486955 31486955 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 22 31486955 31486955 C A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.946 p.P316T 0.538 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 111 0 0 30 38 55.8824 ATP2B2 0 genome.wustl.edu 37 3 10430051 10430051 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 3 10430051 10430051 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.817 p.V273M 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 200 0 0 107 61 36.3095 LSAMP 0 genome.wustl.edu 37 3 115805190 115805190 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 3 115805190 115805190 T C SNP LSAMP ENST00000490035 human ensembl 74_37 -1 known silent c.369 p.Q123 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 31 0 0 23 8 25.8065 MSL2 0 genome.wustl.edu 37 3 135870710 135870710 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 3 135870710 135870710 A G SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1013 p.L338S 0.969 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 70 0 0 36 30 45.4545 MECOM 0 genome.wustl.edu 37 3 168845679 168845679 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 3 168845679 168845679 C T SNP MECOM ENST00000494292 human ensembl 74_37 -1 known silent c.783 p.T261 0.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 188 0 0 129 74 36.4532 TRANK1 0 genome.wustl.edu 37 3 36874650 36874650 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 3 36874650 36874650 A C SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6292 p.F2098V 0.915 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 16 0 0 6 7 53.8462 CENPE 0 genome.wustl.edu 37 4 104065732 104065732 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 104065732 104065732 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4901 p.T1634I 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 27 0 0 29 11 27.5 INTS12 0 genome.wustl.edu 37 4 106614632 106614632 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 106614632 106614632 G A SNP INTS12 ENST00000340139 human ensembl 74_37 -1 known silent c.321 p.D107 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 91 0 0 84 6 6.66667 CFI 0 genome.wustl.edu 37 4 110681428 110681428 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 110681428 110681428 G A SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.881 p.A294V 0.711 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 93 0 0 47 24 33.8028 PITX2 0 genome.wustl.edu 37 4 111539783 111539783 + Missense_Mutation SNP A A T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 111539783 111539783 A T SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.473 p.L158Q 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 131 0 0 66 15 18.5185 PCDH18 0 genome.wustl.edu 37 4 138451501 138451501 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 138451501 138451501 A C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1742 p.L581W 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 177 0 0 112 36 24.3243 FSTL5 0 genome.wustl.edu 37 4 162459350 162459350 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 162459350 162459350 G A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1280 p.S427F 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 155 0 0 96 177 64.8352 ENSG00000248138 0 genome.wustl.edu 37 4 16513597 16513597 + RNA SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 16513597 16513597 G T SNP ENSG00000248138 ENST00000512370 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-446J8.1 Clone_based_vega_gene ENSG00000248138 90 0 0 78 13 14.2857 IRF2 0 genome.wustl.edu 37 4 185340650 185340650 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 185340650 185340650 G C SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.160 p.L54V 0.993 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 128 0 0 55 25 31.25 RBM47 0 genome.wustl.edu 37 4 40440609 40440609 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 40440609 40440609 C T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.302 p.R101H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 81 0 0 56 17 23.2877 ATP10D 0 genome.wustl.edu 37 4 47514786 47514786 + Nonsense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 47514786 47514786 C T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known nonsense c.229 p.R77* 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 77 0 0 53 9 14.5161 NFXL1 0 genome.wustl.edu 37 4 47877167 47877167 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 47877167 47877167 G C SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.2223 p.I741M 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 88 0 0 45 16 26.2295 CNGA1 0 genome.wustl.edu 37 4 47938591 47938591 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 47938591 47938591 C A SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.2127 p.R709S 0.289 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 101 0 0 69 31 31 CRMP1 0 genome.wustl.edu 37 4 5827283 5827283 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 5827283 5827283 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1907 p.S636L 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 61 0 0 43 19 30.6452 JAKMIP1 0 genome.wustl.edu 37 4 6055827 6055827 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 6055827 6055827 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1756 p.D586Y 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 206 0 0 110 14 11.2903 CABS1 0 genome.wustl.edu 37 4 71200978 71200978 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 4 71200978 71200978 A C SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.222 p.K74N 0.121 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 56 0 0 20 19 48.7179 ROPN1L 0 genome.wustl.edu 37 5 10450088 10450088 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 10450088 10450088 T C SNP ROPN1L ENST00000274134 human ensembl 74_37 +1 known silent c.280 p.L94 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1L HGNC ENSG00000145491 78 0 0 107 9 7.75862 PCDHB8 0 genome.wustl.edu 37 5 140559226 140559226 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 140559226 140559226 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1611 p.R537 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 255 0 0 253 14 5.24345 CSNK1A1 0 genome.wustl.edu 37 5 148891431 148891431 + Nonsense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 148891431 148891431 G A SNP CSNK1A1 ENST00000515768 human ensembl 74_37 -1 known nonsense c.685 p.R229* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1 HGNC ENSG00000113712 84 0 0 21 60 74.0741 SDHA 0 genome.wustl.edu 37 5 256624 256624 + RNA SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 256624 256624 G A SNP SDHA ENST00000507522 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SDHA HGNC ENSG00000073578 12 0 0 16 4 20 IRX2 0 genome.wustl.edu 37 5 2749523 2749523 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 2749523 2749523 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.628 p.G210S 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 33 0 0 38 5 11.6279 PDZD2 0 genome.wustl.edu 37 5 32000337 32000337 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 32000337 32000337 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1214 p.R405H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 123 0 0 155 47 23.2673 KIAA0947 0 genome.wustl.edu 37 5 5457596 5457596 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 5 5457596 5457596 T G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.843 p.N281K 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 25 0 0 32 12 27.2727 RFX6 0 genome.wustl.edu 37 6 117239221 117239221 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 117239221 117239221 C A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.994 p.P332T 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 116 0 0 176 11 5.88235 SOGA3 0 genome.wustl.edu 37 6 127836053 127836053 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 127836053 127836053 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1241 p.R414H 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 113 0 0 106 54 33.75 SYNE1 0 genome.wustl.edu 37 6 152671444 152671444 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 152671444 152671444 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11760 p.K3920N 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 61 0 0 70 25 26.3158 IGF2R 0 genome.wustl.edu 37 6 160506142 160506142 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 160506142 160506142 A G SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.6184 p.T2062A 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 26 0 0 18 2 10 LPAL2 0 genome.wustl.edu 37 6 160888696 160888696 + RNA SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 160888696 160888696 A G SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors LPAL2 HGNC ENSG00000213071 51 0 0 52 3 5.45455 TNXB 0 genome.wustl.edu 37 6 32032628 32032628 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 6 32032628 32032628 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6811 p.V2271M 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 89 0 0 45 33 42.3077 RELN 0 genome.wustl.edu 37 7 103131143 103131143 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 103131143 103131143 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9577 p.I3193V 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 100 0 0 130 57 30.4813 OR9A2 0 genome.wustl.edu 37 7 142723590 142723590 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 142723590 142723590 C T SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known silent c.630 p.T210 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 83 0 0 97 45 31.6901 HOXA4 0 genome.wustl.edu 37 7 27169073 27169073 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 27169073 27169073 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.734 p.R245H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 100 0 0 134 25 15.7233 GHRHR 0 genome.wustl.edu 37 7 31011683 31011683 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 31011683 31011683 C T SNP GHRHR ENST00000409316 human ensembl 74_37 +1 putative missense c.23 p.T8M 0.000 NULL NULL - no_errors GHRHR HGNC ENSG00000106128 56 0 0 89 6 6.31579 SDK1 0 genome.wustl.edu 37 7 4116774 4116774 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 4116774 4116774 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3155 p.G1052V 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 63 0 0 77 10 11.4943 GLI3 0 genome.wustl.edu 37 7 42006103 42006103 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 42006103 42006103 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2568 p.S856 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 31 0 0 42 13 23.6364 EGFR 0 genome.wustl.edu 37 7 55232990 55232990 + Silent SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 55232990 55232990 C A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1740 p.I580 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat 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 EGFR HGNC ENSG00000146648 90 0 0 137 27 16.4634 POM121C 0 genome.wustl.edu 37 7 75068500 75068500 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 7 75068500 75068500 C A SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.956 p.R319L 1.000 NULL NULL - no_errors POM121C HGNC ENSG00000135213 246 0 0 266 91 25.4902 RIMS2 0 genome.wustl.edu 37 8 104922687 104922687 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 8 104922687 104922687 A G SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known missense c.1187 p.Q396R 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 43 0 0 82 33 28.6957 CA3 0 genome.wustl.edu 37 8 86352125 86352125 + Silent SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 8 86352125 86352125 T G SNP CA3 ENST00000285381 human ensembl 74_37 +1 known silent c.219 p.T73 0.045 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA3 HGNC ENSG00000164879 85 0 0 48 87 64.4444 OSGIN2 0 genome.wustl.edu 37 8 90937164 90937164 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 8 90937164 90937164 G A SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1054 p.G352S 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 112 0 0 225 36 13.7931 SVEP1 0 genome.wustl.edu 37 9 113192672 113192672 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 9 113192672 113192672 A C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.5412 p.I1804M 0.319 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 27 0 0 28 10 26.3158 AKNA 0 genome.wustl.edu 37 9 117143453 117143453 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 9 117143453 117143453 T C SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.161 p.E54G 0.997 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 34 0 0 37 14 27.451 OR1L1 0 genome.wustl.edu 37 9 125423911 125423911 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 9 125423911 125423911 A G SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.67 p.K23E 0.048 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 38 0 0 41 10 19.6078 GARNL3 0 genome.wustl.edu 37 9 130005495 130005495 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 9 130005495 130005495 C T SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known missense c.110 p.T37M 0.397 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 39 0 0 36 17 32.0755 C9orf171 0 genome.wustl.edu 37 9 135374980 135374980 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 9 135374980 135374980 C T SNP C9orf171 ENST00000343036 human ensembl 74_37 +1 known missense c.625 p.R209W 0.558 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 50 0 0 37 44 54.321 MID2 0 genome.wustl.edu 37 X 107084451 107084451 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 107084451 107084451 C T SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.556 p.P186S 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 45 0 0 38 18 32.1429 DCAF12L1 0 genome.wustl.edu 37 X 125685821 125685821 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 125685821 125685821 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.771 p.I257 0.398 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 24 0 0 15 12 44.4444 USP26 0 genome.wustl.edu 37 X 132160682 132160682 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 132160682 132160682 G A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.1567 p.R523C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 101 0 0 21 103 83.0645 SLITRK4 0 genome.wustl.edu 37 X 142718111 142718111 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 142718111 142718111 C T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 51 0 0 39 28 41.791 ATP2B3 0 genome.wustl.edu 37 X 152821535 152821535 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 152821535 152821535 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.2087 p.R696H 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 118 0 0 75 67 47.1831 MED12 0 genome.wustl.edu 37 X 70341241 70341241 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 70341241 70341241 C T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.800 p.P267L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 83 0 0 91 9 9 FAM9A 0 genome.wustl.edu 37 X 8761697 8761697 + Splice_Site SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f X 8761697 8761697 A G SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known splice_site c.930+2 e7+2 0.130 - - - no_errors FAM9A HGNC ENSG00000183304 26 0 0 5 25 83.3333 ESPNP 0 genome.wustl.edu 37 1 17034125 17034126 + RNA INS - - AGCT TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 17034125 17034126 - AGCT INS ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC ENSG00000268869 16 0 0 12 3 20 PLEKHA6 0 genome.wustl.edu 37 1 204219673 204219673 + Splice_Site DEL C C - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 1 204219673 204219673 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known splice_site_del c.1593+1 e8+1 1.000 - - - no_errors PLEKHA6 HGNC ENSG00000143850 45 0 0 29 20 40.8163 SMARCC2 0 genome.wustl.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 56558379 56558381 AGG - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known in_frame_del c.3276_3274 p.P1092in_frame_del 1.000:1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 49 0 0 35 5 12.5 LRRC10 0 genome.wustl.edu 37 12 70004268 70004268 + Frame_Shift_Del DEL C C - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 12 70004268 70004268 C - DEL LRRC10 ENST00000361484 human ensembl 74_37 -1 known frame_shift_del c.351 p.S118fs 0.949 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 81 0 0 45 19 29.6875 MMP15 0 genome.wustl.edu 37 16 58079237 58079239 + In_Frame_Del DEL CTG CTG - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 16 58079237 58079239 CTG - DEL MMP15 ENST00000219271 human ensembl 74_37 +1 known in_frame_del c.1897_1899 p.L636in_frame_del 0.233:0.949:0.965 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 31 0 0 17 2 10.5263 FMNL1 0 genome.wustl.edu 37 17 43318901 43318901 + Frame_Shift_Del DEL G G - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 17 43318901 43318901 G - DEL FMNL1 ENST00000328118 human ensembl 74_37 +1 known frame_shift_del c.1485 p.D497fs 0.189 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 12 0 0 7 2 22.2222 PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 19 49926531 49926533 CAG - DEL PTH2 ENST00000270631 human ensembl 74_37 -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 41 0 0 14 2 12.5 ALPP 0 genome.wustl.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 2 233243529 233243531 TGC - DEL ALPP ENST00000392027 human ensembl 74_37 +1 known in_frame_del c.17_19 p.L10in_frame_del 0.645:0.641:0.627 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 100 0 0 152 8 5 RBM12 0 genome.wustl.edu 37 20 34242522 34242539 + In_Frame_Del DEL CATGGGTGGCAGTGGGGT CATGGGTGGCAGTGGGGT - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 CATGGGTGGCAGTGGGGT CATGGGTGGCAGTGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 34242522 34242539 CATGGGTGGCAGTGGGGT - DEL RBM12 ENST00000359646 human ensembl 74_37 -1 known in_frame_del c.723_706 p.TPLPPM236in_frame_del 1.000:1.000:0.932:0.858:1.000:1.000:1.000:1.000:1.000:0.987:0.985:0.332:0.332:0.989:0.997:0.992:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 112 0 0 259 14 5.12821 GTSF1L 0 genome.wustl.edu 37 20 42355141 42355141 + Frame_Shift_Del DEL T T - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f 20 42355141 42355141 T - DEL GTSF1L ENST00000373003 human ensembl 74_37 -1 known frame_shift_del c.194 p.N65fs 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1L HGNC ENSG00000124196 78 0 0 123 24 16.3265