Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF KCNA3 0 genome.wustl.edu 37 1 111215835 111215835 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 111215835 111215835 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1597 p.E533K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 109 0 0 65 18 21.6867 MIIP 0 genome.wustl.edu 37 1 12081808 12081808 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 12081808 12081808 C G SNP MIIP ENST00000235332 human ensembl 74_37 +1 known missense c.25 p.Q9E 0.493 NULL NULL - no_errors MIIP HGNC ENSG00000116691 46 0 0 35 8 18.6047 LINGO4 0 genome.wustl.edu 37 1 151774430 151774430 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 151774430 151774430 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.751 p.G251R 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 74 0 0 87 13 13 TCHH 0 genome.wustl.edu 37 1 152080772 152080772 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 152080772 152080772 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4921 p.R1641C 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 105 0 0 134 23 14.6497 HRNR 0 genome.wustl.edu 37 1 152185612 152185612 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 152185612 152185612 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.8493 p.F2831 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 82 0 0 78 40 33.8983 HRNR 0 genome.wustl.edu 37 1 152193511 152193511 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 152193511 152193511 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.594 p.G198 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 93 0 0 99 13 11.6071 NUP210L 0 genome.wustl.edu 37 1 154033097 154033097 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 154033097 154033097 T G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2769 p.E923D 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 112 0 0 125 11 8.08824 OR10X1 0 genome.wustl.edu 37 1 158549454 158549454 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 158549454 158549454 A C SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.236 p.L79R 0.994 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 OR10X1 HGNC ENSG00000186400 82 0 0 89 16 15.2381 ILDR2 0 genome.wustl.edu 37 1 166927077 166927077 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 166927077 166927077 A G SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.308 p.V103A 1.000 smart_Ig_sub pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 112 0 0 119 17 12.5 SELP 0 genome.wustl.edu 37 1 169572294 169572294 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 169572294 169572294 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.1675 p.R559C 0.746 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 89 0 0 87 17 16.3462 RASAL2 0 genome.wustl.edu 37 1 178414760 178414760 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 178414760 178414760 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known silent c.1590 p.L530 0.990 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 89 0 0 94 15 13.7615 F13B 0 genome.wustl.edu 37 1 197026201 197026201 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 197026201 197026201 A T SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1113 p.H371Q 0.229 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 71 0 0 69 13 15.8537 MDM4 0 genome.wustl.edu 37 1 204511962 204511962 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 204511962 204511962 C T SNP MDM4 ENST00000367182 human ensembl 74_37 +1 known missense c.562 p.L188F 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM4 HGNC ENSG00000198625 99 0 0 90 15 14.2857 IL20 0 genome.wustl.edu 37 1 207039928 207039928 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 207039928 207039928 A T SNP IL20 ENST00000367096 human ensembl 74_37 +1 known missense c.325 p.I109F 0.981 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-20,prints_IL-24 - no_errors IL20 HGNC ENSG00000162891 414 0 0 381 66 14.7651 GPR153 0 genome.wustl.edu 37 1 6311551 6311551 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 6311551 6311551 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.826 p.P276S 0.978 pfam_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 32 0 0 24 8 25 PTGER3 0 genome.wustl.edu 37 1 71418611 71418611 + Silent SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 1 71418611 71418611 G T SNP PTGER3 ENST00000356595 human ensembl 74_37 -1 known silent c.1236 p.I412 0.017 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 165 0 0 140 26 15.6627 PNLIPRP3 0 genome.wustl.edu 37 10 118215240 118215240 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 10 118215240 118215240 T A SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.463 p.F155I 0.005 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 62 0 0 38 19 33.3333 AGAP10 0 genome.wustl.edu 37 10 47207813 47207813 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 10 47207813 47207813 T C SNP AGAP10 ENST00000413193 human ensembl 74_37 -1 known missense c.683 p.H228R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP10 HGNC ENSG00000204172 38 0 0 22 3 12 CYP2C9 0 genome.wustl.edu 37 10 96707655 96707655 + Silent SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 10 96707655 96707655 T C SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known silent c.601 p.L201 0.000 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,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 111 0 0 76 51 40.1575 ATM 0 genome.wustl.edu 37 11 108163407 108163407 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 108163407 108163407 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.4498 p.Q1500* 0.098 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 237 0 0 140 97 40.9283 SLC37A2 0 genome.wustl.edu 37 11 124949017 124949017 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 124949017 124949017 T G SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known missense c.324 p.F108L 0.983 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 248 0 0 165 37 18.3168 OR5T3 0 genome.wustl.edu 37 11 56019933 56019933 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 56019933 56019933 C A SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.258 p.H86Q 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 92 0 0 54 19 26.0274 INCENP 0 genome.wustl.edu 37 11 61898025 61898025 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 61898025 61898025 G C SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.1026 p.K342N 0.005 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 71 0 0 54 12 18.1818 SLC3A2 0 genome.wustl.edu 37 11 62648671 62648671 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 62648671 62648671 A C SNP SLC3A2 ENST00000377892 human ensembl 74_37 +1 known missense c.572 p.K191T 1.000 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 25 0 0 14 7 33.3333 RBM4 0 genome.wustl.edu 37 11 66410965 66410965 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 66410965 66410965 G A SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.457 p.A153T 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 99 0 0 101 25 19.8413 IGHMBP2 0 genome.wustl.edu 37 11 68703977 68703977 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 68703977 68703977 A G SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.2029 p.S677G 0.000 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 65 0 0 95 8 7.76699 FAT3 0 genome.wustl.edu 37 11 92534124 92534124 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 92534124 92534124 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7945 p.D2649N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 33 0 0 28 8 22.2222 GLT8D2 0 genome.wustl.edu 37 12 104393227 104393227 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 104393227 104393227 A G SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.350 p.V117A 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 139 0 0 100 23 18.6992 POP5 0 genome.wustl.edu 37 12 121018991 121018991 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 121018991 121018991 G A SNP POP5 ENST00000357500 human ensembl 74_37 -1 known silent c.90 p.S30 0.002 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 - no_errors POP5 HGNC ENSG00000167272 64 0 0 59 12 16.9014 TMEM132D 0 genome.wustl.edu 37 12 129566418 129566418 + Silent SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 129566418 129566418 T C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1809 p.Q603 0.881 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 75 0 0 69 10 12.6582 EP400 0 genome.wustl.edu 37 12 132547087 132547087 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 132547087 132547087 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8283 p.Q2761 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 66 0 0 41 4 8.88889 POLE 0 genome.wustl.edu 37 12 133233758 133233758 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 133233758 133233758 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.3546 p.K1182 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 103 0 0 65 14 17.7215 SOX5 0 genome.wustl.edu 37 12 23757383 23757383 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 23757383 23757383 C A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1102 p.A368S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 99 0 0 103 17 14.1667 NELL2 0 genome.wustl.edu 37 12 44926420 44926420 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 44926420 44926420 C A SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1898 p.C633F 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 97 0 0 70 48 40.678 KRT73 0 genome.wustl.edu 37 12 53004496 53004496 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 53004496 53004496 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1234 p.R412W 0.998 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 73 0 0 103 9 8.03571 ERBB3 0 genome.wustl.edu 37 12 56489534 56489534 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 56489534 56489534 C A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1999 p.R667S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 136 0 0 87 62 41.6107 NCAPD2 0 genome.wustl.edu 37 12 6623969 6623969 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 6623969 6623969 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known silent c.870 p.L290 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 128 0 0 119 21 15 FLT1 0 genome.wustl.edu 37 13 29001983 29001983 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 13 29001983 29001983 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.1182 p.D394 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 128 0 0 73 19 20.6522 SLC46A3 0 genome.wustl.edu 37 13 29292018 29292018 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 13 29292018 29292018 T A SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.118 p.T40S 0.875 pfam_MFS pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 133 0 0 105 15 12.5 DGKH 0 genome.wustl.edu 37 13 42740687 42740687 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 13 42740687 42740687 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.995 p.P332L 1.000 smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 129 0 0 112 17 13.1783 KPNA3 0 genome.wustl.edu 37 13 50279853 50279853 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 13 50279853 50279853 G C SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.1276 p.Q426E 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 88 0 0 97 15 13.3929 TGM1 0 genome.wustl.edu 37 14 24724611 24724611 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 14 24724611 24724611 T A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1604 p.N535I 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 37 0 0 39 10 20.4082 HECTD1 0 genome.wustl.edu 37 14 31585523 31585523 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 14 31585523 31585523 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.5537 p.Y1846C 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 107 0 0 56 35 38.4615 SPTB 0 genome.wustl.edu 37 14 65252605 65252605 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 14 65252605 65252605 T A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3626 p.K1209M 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 242 0 0 172 54 23.8938 UNC79 0 genome.wustl.edu 37 14 94088124 94088124 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 14 94088124 94088124 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4611 p.D1537 0.971 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 88 0 0 73 13 15.1163 LYSMD4 0 genome.wustl.edu 37 15 100272076 100272076 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 100272076 100272076 A G SNP LYSMD4 ENST00000344791 human ensembl 74_37 -1 known missense c.41 p.L14P 0.000 NULL NULL - no_errors LYSMD4 HGNC ENSG00000183060 52 0 0 68 7 9.33333 HERC2 0 genome.wustl.edu 37 15 28412927 28412927 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 28412927 28412927 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10460 p.S3487L 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 121 0 0 119 24 16.7832 RYR3 0 genome.wustl.edu 37 15 34111969 34111969 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 34111969 34111969 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.10719 p.D3573 0.828 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 463 0 0 339 78 18.705 FAM214A 0 genome.wustl.edu 37 15 52970229 52970229 + RNA SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 52970229 52970229 A C SNP FAM214A ENST00000562351 human ensembl 74_37 -1 putative rna NULL NULL 0.600 - - - no_errors FAM214A HGNC ENSG00000047346 113 0 0 68 20 22.7273 NEDD4 0 genome.wustl.edu 37 15 56208943 56208943 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 56208943 56208943 G A SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known silent c.87 p.S29 0.913 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 229 0 0 156 36 18.75 TEX9 0 genome.wustl.edu 37 15 56704540 56704540 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 56704540 56704540 G C SNP TEX9 ENST00000352903 human ensembl 74_37 +1 known missense c.869 p.S290T 0.043 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 111 0 0 76 15 16.4835 MNS1 0 genome.wustl.edu 37 15 56748664 56748664 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 56748664 56748664 G A SNP MNS1 ENST00000260453 human ensembl 74_37 -1 known missense c.281 p.A94V 0.998 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 89 0 0 59 8 11.9403 EDC3 0 genome.wustl.edu 37 15 74948184 74948184 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 74948184 74948184 G C SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.710 p.P237R 0.995 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 98 0 0 127 37 22.561 LOC645752 0 genome.wustl.edu 37 15 78212095 78212095 + RNA SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 78212095 78212095 C A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 346 0 0 355 74 17.2494 KIAA1199 0 genome.wustl.edu 37 15 81187373 81187373 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 81187373 81187373 T C SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.1129 p.Y377H 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 87 0 0 127 13 9.28571 ADAMTSL3 0 genome.wustl.edu 37 15 84506901 84506901 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 84506901 84506901 G T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.661 p.A221S 0.948 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 65 0 0 114 15 11.6279 KLHL25 0 genome.wustl.edu 37 15 86311859 86311859 + Nonsense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 86311859 86311859 C A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known nonsense c.1183 p.G395* 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 57 0 0 61 15 19.7368 AGBL1 0 genome.wustl.edu 37 15 87089267 87089267 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 87089267 87089267 A C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.2582 p.K861T 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 49 0 0 85 6 6.59341 BLM 0 genome.wustl.edu 37 15 91304081 91304081 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 91304081 91304081 A G SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.1478 p.N493S 0.006 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 128 0 0 189 15 7.35294 PGPEP1L 0 genome.wustl.edu 37 15 99511811 99511811 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 15 99511811 99511811 A C SNP PGPEP1L ENST00000378919 human ensembl 74_37 -1 known missense c.487 p.L163V 0.981 superfamily_Peptidase_C15-like pfam_Peptidase_C15,superfamily_Peptidase_C15-like - no_errors PGPEP1L HGNC ENSG00000183571 37 0 0 27 5 15.625 TSC2 0 genome.wustl.edu 37 16 2134593 2134593 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 16 2134593 2134593 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.4370 p.R1457Q 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 34 0 0 23 9 28.125 OTOA 0 genome.wustl.edu 37 16 21698841 21698841 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 16 21698841 21698841 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.507 p.Q169 0.998 NULL NULL - no_errors OTOA HGNC ENSG00000155719 99 0 0 80 34 29.8246 TMEM219 0 genome.wustl.edu 37 16 29979459 29979459 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 16 29979459 29979459 C A SNP TMEM219 ENST00000279396 human ensembl 74_37 +1 known missense c.469 p.P157T 1.000 NULL NULL - no_errors TMEM219 HGNC ENSG00000149932 171 0 0 142 20 12.3457 MAF 0 genome.wustl.edu 37 16 79633675 79633675 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 16 79633675 79633675 A T SNP MAF ENST00000326043 human ensembl 74_37 -1 known missense c.125 p.I42N 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 71 0 0 46 10 17.8571 MYH3 0 genome.wustl.edu 37 17 10544483 10544483 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 10544483 10544483 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.2084 p.R695Q 0.988 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 92 0 0 57 13 18.5714 RNF112 0 genome.wustl.edu 37 17 19318451 19318451 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 19318451 19318451 C T SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel silent c.1227 p.N409 0.967 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 72 0 0 59 31 34.4444 SSH2 0 genome.wustl.edu 37 17 28004742 28004742 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 28004742 28004742 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.416 p.G139D 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 105 0 0 112 11 8.94309 EVI2A 0 genome.wustl.edu 37 17 29645449 29645449 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 29645449 29645449 T G SNP EVI2A ENST00000247270 human ensembl 74_37 -1 known missense c.652 p.T218P 1.000 pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A - no_errors EVI2A HGNC ENSG00000126860 55 0 0 48 11 18.6441 NLE1 0 genome.wustl.edu 37 17 33464132 33464132 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 33464132 33464132 T A SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known missense c.716 p.E239V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 57 0 0 70 10 12.5 PSME3 0 genome.wustl.edu 37 17 40986840 40986840 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 40986840 40986840 C A SNP PSME3 ENST00000293362 human ensembl 74_37 +1 known missense c.190 p.L64I 1.000 pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME3 HGNC ENSG00000131467 112 1 0.884956 72 57 44.186 KIF2B 0 genome.wustl.edu 37 17 51901650 51901650 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 51901650 51901650 A C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1256 p.N419T 0.999 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 67 0 0 68 11 13.9241 ST8SIA5 0 genome.wustl.edu 37 18 44260170 44260170 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 18 44260170 44260170 C T SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known nonsense c.966 p.W322* 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 122 0 0 74 27 26.7327 CDH7 0 genome.wustl.edu 37 18 63511056 63511056 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 18 63511056 63511056 T G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.990 p.D330E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 74 0 0 43 19 30.6452 SALL3 0 genome.wustl.edu 37 18 76753964 76753964 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 18 76753964 76753964 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1973 p.T658M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 18 0 0 13 10 43.4783 GIPC1 0 genome.wustl.edu 37 19 14589279 14589279 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 14589279 14589279 G A SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known silent c.951 p.F317 0.992 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 21 0 0 21 4 16 ZNF793 0 genome.wustl.edu 37 19 38028045 38028045 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 38028045 38028045 A G SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.485 p.K162R 0.512 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 38 0 0 63 6 8.69565 CYP2A7 0 genome.wustl.edu 37 19 41383171 41383171 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 41383171 41383171 A T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.1085 p.F362Y 0.158 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 123 0 0 186 35 15.8371 PSG8 0 genome.wustl.edu 37 19 43258561 43258561 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 43258561 43258561 G A SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known silent c.1167 p.S389 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 347 1 0.287356 211 113 34.8765 ZNF227 0 genome.wustl.edu 37 19 44740983 44740983 + Nonstop_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 44740983 44740983 G T SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known nonstop c.2400 p.*800Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 41 0 0 24 9 27.2727 SLC6A16 0 genome.wustl.edu 37 19 49814483 49814483 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 49814483 49814483 G T SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.122 p.S41Y 0.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 56 0 0 42 12 22.2222 TEAD2 0 genome.wustl.edu 37 19 49862699 49862699 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 49862699 49862699 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.290 p.R97Q 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 243 0 0 102 74 42.0455 LILRA2 0 genome.wustl.edu 37 19 55087526 55087526 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 55087526 55087526 A G SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.1205 p.N402S 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 122 1 0.813008 63 24 27.5862 NLRP5 0 genome.wustl.edu 37 19 56569735 56569735 + Nonsense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 56569735 56569735 T A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known nonsense c.3429 p.C1143* 0.004 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 NLRP5 HGNC ENSG00000171487 50 0 0 39 8 17.0213 ZNF584 0 genome.wustl.edu 37 19 58929139 58929139 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 58929139 58929139 C T SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known silent c.1254 p.V418 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 103 0 0 70 15 17.6471 MUC16 0 genome.wustl.edu 37 19 9071727 9071727 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 9071727 9071727 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15719 p.K5240T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 169 0 0 119 24 16.7832 MARCO 0 genome.wustl.edu 37 2 119751970 119751970 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 119751970 119751970 G A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.1437 p.G479 0.010 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 74 0 0 68 14 17.0732 GLI2 0 genome.wustl.edu 37 2 121746631 121746631 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 121746631 121746631 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.3141 p.A1047 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 35 0 0 23 9 28.125 XIRP2 0 genome.wustl.edu 37 2 168103997 168103997 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 168103997 168103997 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6095 p.R2032H 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 50 0 0 42 9 17.6471 HECW2 0 genome.wustl.edu 37 2 197183523 197183523 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 197183523 197183523 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known silent c.2091 p.S697 0.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 36 0 0 45 5 10 GDF7 0 genome.wustl.edu 37 2 20870362 20870362 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 20870362 20870362 C T SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known missense c.530 p.P177L 0.004 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 15 0 0 11 3 21.4286 GPN1 0 genome.wustl.edu 37 2 27861084 27861084 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 27861084 27861084 T A SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.574 p.Y192N 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 54 0 0 40 10 20 NRXN1 0 genome.wustl.edu 37 2 50724814 50724814 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 50724814 50724814 T A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2512 p.N838Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 97 0 0 64 23 26.4368 CCDC85A 0 genome.wustl.edu 37 2 56420020 56420020 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 56420020 56420020 G A SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.685 p.A229T 0.007 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 42 0 0 30 6 16.6667 ANXA4 0 genome.wustl.edu 37 2 70033572 70033572 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 70033572 70033572 T A SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.248 p.V83E 0.992 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 79 0 0 86 18 17.3077 KDM3A 0 genome.wustl.edu 37 2 86716717 86716717 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 2 86716717 86716717 C G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.3508 p.P1170A 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 67 0 0 62 10 13.8889 KIF16B 0 genome.wustl.edu 37 20 16486769 16486769 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 16486769 16486769 T G SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.766 p.S256R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 162 0 0 143 27 15.8824 DZANK1 0 genome.wustl.edu 37 20 18429663 18429663 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 18429663 18429663 C G SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known missense c.594 p.E198D 0.835 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 130 0 0 117 17 12.6866 PHF20 0 genome.wustl.edu 37 20 34526800 34526800 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 34526800 34526800 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2482 p.R828C 0.165 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 56 0 0 83 17 17 EPB41L1 0 genome.wustl.edu 37 20 34778617 34778617 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 34778617 34778617 C T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known nonsense c.1198 p.Q400* 1.000 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 69 0 0 90 9 9.09091 CHD6 0 genome.wustl.edu 37 20 40049424 40049424 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 40049424 40049424 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.5851 p.E1951K 0.094 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 213 0 0 269 51 15.9375 IFT52 0 genome.wustl.edu 37 20 42252656 42252656 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 42252656 42252656 G A SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known silent c.894 p.L298 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 360 0 0 557 44 7.32113 SLC12A5 0 genome.wustl.edu 37 20 44674590 44674590 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 44674590 44674590 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.1712 p.G571D 1.000 pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 186 0 0 325 34 9.47075 FAM209A 0 genome.wustl.edu 37 20 55100041 55100041 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 55100041 55100041 A G SNP FAM209A ENST00000371328 human ensembl 74_37 +1 known silent c.177 p.K59 0.861 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 128 1 0.775194 204 17 7.69231 SLC17A9 0 genome.wustl.edu 37 20 61588204 61588204 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 20 61588204 61588204 C G SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.147 p.V49 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 40 0 0 87 9 9.375 KRTAP13-2 0 genome.wustl.edu 37 21 31744376 31744376 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 21 31744376 31744376 G A SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known silent c.156 p.L52 0.180 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 86 0 0 96 9 8.57143 KRTAP19-7 0 genome.wustl.edu 37 21 31933515 31933515 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 21 31933515 31933515 A C SNP KRTAP19-7 ENST00000334849 human ensembl 74_37 -1 known missense c.94 p.F32V 0.001 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-7 HGNC ENSG00000244362 139 0 0 137 18 11.6129 DYRK1A 0 genome.wustl.edu 37 21 38845158 38845158 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 21 38845158 38845158 G C SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.183 p.Q61H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 134 0 0 67 18 21.1765 MX1 0 genome.wustl.edu 37 21 42821220 42821220 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 21 42821220 42821220 C T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.1430 p.T477M 0.004 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 111 0 0 70 15 17.6471 MYH9 0 genome.wustl.edu 37 22 36681783 36681783 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 22 36681783 36681783 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5195 p.A1732V 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 16 0 0 20 8 28.5714 BAIAP2L2 0 genome.wustl.edu 37 22 38482283 38482283 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 22 38482283 38482283 C G SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1433 p.S478T 0.997 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 32 0 0 22 13 37.1429 PARP14 0 genome.wustl.edu 37 3 122414498 122414498 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 3 122414498 122414498 T C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.824 p.F275S 0.274 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 32 0 0 25 3 10.7143 CLSTN2 0 genome.wustl.edu 37 3 140122503 140122503 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 3 140122503 140122503 G T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known nonsense c.265 p.E89* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 205 0 0 183 33 15.2778 MME 0 genome.wustl.edu 37 3 154856014 154856014 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 3 154856014 154856014 G A SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.844 p.E282K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 105 0 0 72 19 20.8791 PIK3CA 0 genome.wustl.edu 37 3 178952007 178952007 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 3 178952007 178952007 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3062 p.Y1021C 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 95 0 0 52 15 22.3881 MST1R 0 genome.wustl.edu 37 3 49928023 49928023 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 3 49928023 49928023 G C SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.3705 p.D1235E 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 52 0 0 33 7 17.5 FAT4 0 genome.wustl.edu 37 4 126370611 126370611 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 4 126370611 126370611 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8440 p.A2814S 0.697 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 93 0 0 66 16 19.5122 TENM3 0 genome.wustl.edu 37 4 183713739 183713739 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 4 183713739 183713739 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known nonsense c.5914 p.E1972* 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 246 0 0 175 42 19.3548 STPG2 0 genome.wustl.edu 37 4 98633959 98633959 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 4 98633959 98633959 G A SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known missense c.1211 p.A404V 0.985 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 108 0 0 95 5 5 DNAH5 0 genome.wustl.edu 37 5 13922344 13922344 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 13922344 13922344 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.532 p.A178T 0.985 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 59 0 0 44 16 26.6667 SLC6A3 0 genome.wustl.edu 37 5 1409887 1409887 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 1409887 1409887 C T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.1347 p.T449 0.991 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 84 0 0 76 8 9.52381 ARAP3 0 genome.wustl.edu 37 5 141033762 141033762 + Nonsense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 141033762 141033762 C A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known nonsense c.4390 p.E1464* 0.158 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 116 0 0 69 20 22.4719 MARCH11 0 genome.wustl.edu 37 5 16067798 16067798 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 16067798 16067798 C T SNP MARCH11 ENST00000332432 human ensembl 74_37 -1 known missense c.991 p.E331K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 66 0 0 52 40 43.4783 PDZD2 0 genome.wustl.edu 37 5 32089722 32089722 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 32089722 32089722 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.6168 p.R2056 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 139 1 0.714286 139 26 15.7576 ADCY2 0 genome.wustl.edu 37 5 7396565 7396565 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 7396565 7396565 C G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.156 p.L52 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 64 0 0 59 11 15.7143 C5orf49 0 genome.wustl.edu 37 5 7832018 7832018 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 7832018 7832018 T G SNP C5orf49 ENST00000399810 human ensembl 74_37 -1 known missense c.389 p.K130T 1.000 NULL NULL - no_errors C5orf49 HGNC ENSG00000215217 120 0 0 110 40 26.6667 SERINC5 0 genome.wustl.edu 37 5 79465284 79465284 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 79465284 79465284 A G SNP SERINC5 ENST00000509193 human ensembl 74_37 -1 known silent c.637 p.L213 0.985 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 60 0 0 55 15 21.4286 ERVFRD-1 0 genome.wustl.edu 37 6 11105535 11105535 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 11105535 11105535 C T SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known silent c.9 p.L3 0.518 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 48 0 0 37 8 17.7778 NCOA7 0 genome.wustl.edu 37 6 126248844 126248844 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 126248844 126248844 C G SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.2559 p.F853L 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 125 0 0 106 7 6.19469 RSPO3 0 genome.wustl.edu 37 6 127471646 127471646 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 127471646 127471646 T A SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known missense c.365 p.L122H 0.993 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 78 0 0 42 27 39.1304 ADAT2 0 genome.wustl.edu 37 6 143749634 143749634 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 143749634 143749634 G A SNP ADAT2 ENST00000237283 human ensembl 74_37 -1 known missense c.542 p.S181L 1.000 superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT2 HGNC ENSG00000189007 52 0 0 43 9 17.3077 SLC22A1 0 genome.wustl.edu 37 6 160560841 160560841 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 160560841 160560841 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.1218 p.M406I 0.487 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 72 0 0 63 15 19.2308 HIST1H1C 0 genome.wustl.edu 37 6 26056139 26056139 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 26056139 26056139 C G SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.518 p.S173T 1.000 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 235 1 0.423729 119 107 47.3451 HIST1H4E 0 genome.wustl.edu 37 6 26204985 26204985 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 26204985 26204985 T A SNP HIST1H4E ENST00000360441 human ensembl 74_37 +1 known missense c.113 p.L38H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 87 0 0 71 43 37.7193 PBX2 0 genome.wustl.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 32155509 32155509 T A SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.785 p.Y262F 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 27 0 0 33 3 8.33333 RIPPLY2 0 genome.wustl.edu 37 6 84563444 84563444 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 6 84563444 84563444 C T SNP RIPPLY2 ENST00000369689 human ensembl 74_37 +1 known silent c.126 p.D42 0.003 NULL NULL - no_errors RIPPLY2 HGNC ENSG00000203877 71 0 0 46 5 9.80392 MAGI2 0 genome.wustl.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 7 77885499 77885499 A C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1808 p.L603R 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 50 0 0 45 6 11.7647 ZNF804B 0 genome.wustl.edu 37 7 88963320 88963320 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 7 88963320 88963320 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known nonsense c.1024 p.E342* 0.995 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 52 0 0 55 7 11.2903 AKAP9 0 genome.wustl.edu 37 7 91632525 91632525 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 7 91632525 91632525 A C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3330 p.E1110D 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 93 0 0 283 29 9.29487 TRRAP 0 genome.wustl.edu 37 7 98503872 98503872 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 7 98503872 98503872 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.1109 p.T370I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 62 0 0 114 7 5.78512 TRRAP 0 genome.wustl.edu 37 7 98581821 98581821 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 7 98581821 98581821 T A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.9140 p.I3047N 0.996 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 152 0 0 323 29 8.23864 RGS22 0 genome.wustl.edu 37 8 101075729 101075729 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 101075729 101075729 T C SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1267 p.K423E 0.987 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 114 0 0 84 14 14.2857 DCAF13 0 genome.wustl.edu 37 8 104427550 104427550 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 104427550 104427550 G A SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.332 p.R111H 0.000 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 75 0 0 60 12 16.6667 RIMS2 0 genome.wustl.edu 37 8 104709365 104709365 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 104709365 104709365 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.228 p.G76 0.962 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 87 0 0 69 15 17.8571 ZNF623 0 genome.wustl.edu 37 8 144732869 144732869 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 144732869 144732869 C T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.827 p.S276L 0.946 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 93 0 0 71 4 5.33333 ADRA1A 0 genome.wustl.edu 37 8 26722075 26722075 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 26722075 26722075 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.412 p.V138I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 83 0 0 51 10 16.3934 TEX15 0 genome.wustl.edu 37 8 30701489 30701489 + Nonsense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 30701489 30701489 A C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.5045 p.L1682* 0.231 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 132 0 0 81 16 16.4948 GDAP1 0 genome.wustl.edu 37 8 75262744 75262744 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 8 75262744 75262744 G A SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known silent c.48 p.A16 0.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 23 0 0 30 8 21.0526 EPB41L4B 0 genome.wustl.edu 37 9 111947780 111947780 + Nonsense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 111947780 111947780 T A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known nonsense c.2407 p.K803* 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 64 0 0 43 8 15.6863 PAPPA 0 genome.wustl.edu 37 9 118974066 118974066 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 118974066 118974066 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1773 p.E591 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 161 0 0 126 25 16.5563 RAPGEF1 0 genome.wustl.edu 37 9 134497285 134497285 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 134497285 134497285 C A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.1806 p.K602N 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 29 0 0 24 6 20 C9orf96 0 genome.wustl.edu 37 9 136253262 136253262 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 136253262 136253262 A C SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.326 p.E109A 0.924 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 122 0 0 64 22 25.5814 FOXB2 0 genome.wustl.edu 37 9 79634960 79634960 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 79634960 79634960 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.390 p.A130 0.003 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 15 0 0 12 4 25 PTPRD 0 genome.wustl.edu 37 9 8331655 8331655 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 9 8331655 8331655 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5461 p.I1821V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 127 0 0 71 31 30.3922 SLC25A53 0 genome.wustl.edu 37 X 103349893 103349893 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 103349893 103349893 C T SNP SLC25A53 ENST00000357421 human ensembl 74_37 -1 known silent c.48 p.T16 0.003 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 34 0 0 17 15 46.875 ACTRT1 0 genome.wustl.edu 37 X 127185859 127185859 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 127185859 127185859 G A SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known silent c.327 p.T109 0.212 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 195 0 0 165 83 33.4677 GPR50 0 genome.wustl.edu 37 X 150349052 150349052 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 150349052 150349052 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.997 p.R333C 0.043 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 100 0 0 80 37 31.6239 F8 0 genome.wustl.edu 37 X 154176146 154176146 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 154176146 154176146 G T SNP F8 ENST00000360256 human ensembl 74_37 -1 known nonsense c.1940 p.S647* 0.694 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 25 0 0 19 14 42.4242 MXRA5 0 genome.wustl.edu 37 X 3227890 3227890 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 3227890 3227890 C A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.8354 p.G2785V 0.999 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 51 0 0 33 15 31.25 ARAF 0 genome.wustl.edu 37 X 47422726 47422726 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 47422726 47422726 G C SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.198 p.K66N 0.996 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 11 0 0 18 4 18.1818 AR 0 genome.wustl.edu 37 X 66765698 66765698 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 66765698 66765698 A G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.710 p.K237R 1.000 pfam_Andrgn_rcpt,prints_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 19 0 0 13 15 53.5714 P2RY10 0 genome.wustl.edu 37 X 78216896 78216896 + Silent SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 X 78216896 78216896 T A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known silent c.879 p.L293 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 205 0 0 165 56 25.3394 ATM 0 genome.wustl.edu 37 11 108121510 108121511 + Frame_Shift_Del DEL TC TC - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 11 108121510 108121511 TC - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.1318_1319 p.Q441fs 0.007:0.024 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 126 0 0 85 39 31.4516 ACVRL1 0 genome.wustl.edu 37 12 52306272 52306272 + Frame_Shift_Del DEL C C - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 12 52306272 52306272 C - DEL ACVRL1 ENST00000550683 human ensembl 74_37 +1 known frame_shift_del c.56 p.R21fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 65 0 0 35 8 18.6047 SSH2 0 genome.wustl.edu 37 17 27963708 27963709 + Frame_Shift_Ins INS - - G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 17 27963708 27963709 - G INS SSH2 ENST00000269033 human ensembl 74_37 -1 known frame_shift_ins c.1459_1458 p.S486fs 0.999:0.970 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 214 0 0 171 89 34.2308 VAV1 0 genome.wustl.edu 37 19 6828659 6828660 + Frame_Shift_Ins INS - - AAGCG TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 19 6828659 6828660 - AAGCG INS VAV1 ENST00000602142 human ensembl 74_37 +1 known frame_shift_ins c.1119_1120 p.D375fs 1.000:1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 299 0 0 188 12 6 KCNN2 0 genome.wustl.edu 37 5 113822774 113822775 + Frame_Shift_Del DEL AG AG - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 5 113822774 113822775 AG - DEL KCNN2 ENST00000264773 human ensembl 74_37 +1 known frame_shift_del c.1282_1283 p.R428fs 1.000:1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 94 0 0 62 8 11.4286