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 NPPB 0 genome.wustl.edu 37 1 11918406 11918406 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 11918406 11918406 C T SNP NPPB ENST00000376468 human ensembl 74_37 -1 known missense c.253 p.E85K 0.000 NULL pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain - no_errors NPPB HGNC ENSG00000120937 62 0 0 56 8 12.5 LOC100996735 0 genome.wustl.edu 37 1 148932835 148932835 + RNA SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 148932835 148932835 C T SNP LOC100996735 ENST00000294715 human ensembl 74_37 +1 known rna NULL NULL 0.150 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 152 1 0.653595 130 7 5.10949 S100A9 0 genome.wustl.edu 37 1 153333228 153333228 + Missense_Mutation SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 153333228 153333228 A C SNP S100A9 ENST00000368738 human ensembl 74_37 +1 known missense c.259 p.T87P 0.014 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100A9 HGNC ENSG00000163220 54 0 0 53 8 13.1148 APOA1BP 0 genome.wustl.edu 37 1 156563293 156563293 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 156563293 156563293 C T SNP APOA1BP ENST00000368234 human ensembl 74_37 +1 known missense c.554 p.P185L 1.000 NULL pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 102 0 0 76 13 14.6067 FAM20B 0 genome.wustl.edu 37 1 179033214 179033214 + Nonsense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 179033214 179033214 C T SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known nonsense c.727 p.R243* 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 92 0 0 60 42 41.1765 KCNT2 0 genome.wustl.edu 37 1 196227293 196227293 + RNA SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 196227293 196227293 C A SNP KCNT2 ENST00000610076 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KCNT2 HGNC ENSG00000162687 50 0 0 48 9 15.7895 CFH 0 genome.wustl.edu 37 1 196642297 196642297 + RNA SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 196642297 196642297 A C SNP CFH ENST00000496761 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CFH HGNC ENSG00000000971 64 0 0 83 11 11.7021 URB2 0 genome.wustl.edu 37 1 229771163 229771163 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 229771163 229771163 C T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.803 p.T268M 0.606 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 74 0 0 51 40 43.956 NID1 0 genome.wustl.edu 37 1 236175230 236175230 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 236175230 236175230 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2518 p.V840M 0.178 superfamily_Thyroglobulin_1,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 122 1 0.813008 122 9 6.87023 EXO1 0 genome.wustl.edu 37 1 242021853 242021853 + Nonsense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 242021853 242021853 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known nonsense c.589 p.Q197* 1.000 pfam_XPG-I_dom,smart_XPG-I_dom pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 138 0 0 148 14 8.64198 SNRNP40 0 genome.wustl.edu 37 1 31764770 31764770 + Missense_Mutation SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 31764770 31764770 T C SNP SNRNP40 ENST00000446633 human ensembl 74_37 -1 known missense c.355 p.T119A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SNRNP40 HGNC ENSG00000060688 55 0 0 76 5 6.17284 GPR153 0 genome.wustl.edu 37 1 6314867 6314867 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 6314867 6314867 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known silent c.99 p.G33 0.656 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 90 0 0 83 9 9.78261 LEPR 0 genome.wustl.edu 37 1 66101896 66101896 + Missense_Mutation SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 66101896 66101896 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2696 p.F899S 1.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 189 0 0 181 13 6.70103 PTGFR 0 genome.wustl.edu 37 1 78958507 78958507 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 78958507 78958507 C T SNP PTGFR ENST00000370757 human ensembl 74_37 +1 known missense c.79 p.R27W 0.983 prints_PglndnF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn - no_errors PTGFR HGNC ENSG00000122420 97 0 0 96 8 7.69231 RBP3 0 genome.wustl.edu 37 10 48388253 48388253 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 10 48388253 48388253 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.2625 p.G875 0.221 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 43 0 0 26 16 38.0952 GRIA4 0 genome.wustl.edu 37 11 105795326 105795326 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 105795326 105795326 G A SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1678 p.V560M 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 46 0 0 45 13 22.4138 SRPR 0 genome.wustl.edu 37 11 126137202 126137202 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 126137202 126137202 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.394 p.A132T 1.000 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 119 0 0 98 7 6.66667 MUC5B 0 genome.wustl.edu 37 11 1271245 1271245 + Missense_Mutation SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 1271245 1271245 A C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.13144 p.T4382P 0.004 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 171 1 0.581395 108 23 17.5573 ADAMTS15 0 genome.wustl.edu 37 11 130331473 130331473 + Missense_Mutation SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 130331473 130331473 G T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.1047 p.E349D 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 101 0 0 72 9 11.1111 MRGPRX2 0 genome.wustl.edu 37 11 19077528 19077528 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 19077528 19077528 C T SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.422 p.R141H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 80 0 0 64 9 12.3288 RAG1 0 genome.wustl.edu 37 11 36597806 36597806 + Missense_Mutation SNP C C G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 36597806 36597806 C G SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.2952 p.C984W 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 102 0 0 103 9 8.03571 OR52K1 0 genome.wustl.edu 37 11 4511022 4511022 + Missense_Mutation SNP A A T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 4511022 4511022 A T SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.892 p.T298S 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 152 1 0.653595 127 27 17.5325 OR51A2 0 genome.wustl.edu 37 11 4976013 4976013 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 4976013 4976013 A G SNP OR51A2 ENST00000380371 human ensembl 74_37 -1 known missense c.931 p.W311R 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 75 0 0 22 7 24.1379 OR56B1 0 genome.wustl.edu 37 11 5758490 5758490 + Missense_Mutation SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 5758490 5758490 C A SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.744 p.S248R 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 146 0 0 146 19 11.5152 OR5B2 0 genome.wustl.edu 37 11 58189993 58189993 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 58189993 58189993 C T SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.742 p.V248I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 55 0 0 39 6 13.3333 LPXN 0 genome.wustl.edu 37 11 58318648 58318648 + Missense_Mutation SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 58318648 58318648 C A SNP LPXN ENST00000528954 human ensembl 74_37 -1 known missense c.391 p.A131S 0.511 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 38 0 0 28 9 24.3243 AHNAK 0 genome.wustl.edu 37 11 62297320 62297320 + Silent SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 62297320 62297320 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.4569 p.F1523 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 329 0 0 208 52 20 RASGRP2 0 genome.wustl.edu 37 11 64503430 64503430 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 64503430 64503430 G A SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.1118 p.T373M 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 35 0 0 39 4 9.30233 MALAT1 0 genome.wustl.edu 37 11 65269751 65269751 + RNA SNP T T A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 11 65269751 65269751 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 29 0 0 16 3 15.7895 PLBD2 0 genome.wustl.edu 37 12 113821937 113821937 + Nonsense_Mutation SNP A A T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 12 113821937 113821937 A T SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known nonsense c.985 p.K329* 0.994 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 59 0 0 32 10 23.8095 CCND2 0 genome.wustl.edu 37 12 4388038 4388038 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 12 4388038 4388038 C T SNP CCND2 ENST00000261254 human ensembl 74_37 +1 known missense c.524 p.S175F 0.871 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND2 HGNC ENSG00000118971 65 0 0 30 4 11.7647 KRT72 0 genome.wustl.edu 37 12 52981611 52981611 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 12 52981611 52981611 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1114 p.A372T 0.691 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 47 0 0 32 4 11.1111 OR6C2 0 genome.wustl.edu 37 12 55846401 55846401 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 12 55846401 55846401 A G SNP OR6C2 ENST00000322678 human ensembl 74_37 +1 known missense c.404 p.N135S 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 119 0 0 103 11 9.64912 E2F7 0 genome.wustl.edu 37 12 77449854 77449854 + Silent SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 12 77449854 77449854 T C SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known silent c.150 p.E50 0.998 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 73 0 0 63 17 21.25 STARD13 0 genome.wustl.edu 37 13 33741704 33741704 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 13 33741704 33741704 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.225 p.Y75 1.000 pfam_SAM_2,superfamily_SAM/pointed pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 98 0 0 77 5 6.09756 SLITRK6 0 genome.wustl.edu 37 13 86368299 86368299 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 13 86368299 86368299 A G SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2345 p.L782P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 125 0 0 152 9 5.59006 TTLL5 0 genome.wustl.edu 37 14 76149995 76149995 + Missense_Mutation SNP C C G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 14 76149995 76149995 C G SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.367 p.P123A 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 82 0 0 36 38 51.3514 CATSPERB 0 genome.wustl.edu 37 14 92195816 92195816 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 14 92195816 92195816 G A SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.8 p.S3L 0.000 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 31 0 0 23 3 11.5385 DYX1C1 0 genome.wustl.edu 37 15 55742448 55742448 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 15 55742448 55742448 C T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.755 p.R252H 1.000 NULL pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 82 0 0 45 14 23.7288 PEAK1 0 genome.wustl.edu 37 15 77472426 77472426 + Missense_Mutation SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 15 77472426 77472426 T C SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.1843 p.T615A 0.109 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 119 0 0 84 40 32.2581 CIITA 0 genome.wustl.edu 37 16 11001727 11001727 + Missense_Mutation SNP T T A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 16 11001727 11001727 T A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2378 p.L793Q 0.877 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 86 0 0 73 13 15.1163 TELO2 0 genome.wustl.edu 37 16 1552705 1552705 + Silent SNP A A T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 16 1552705 1552705 A T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known silent c.1713 p.G571 0.078 pfam_Telomere_length_regulation_dom pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 228 0 0 161 35 17.8571 AXIN1 0 genome.wustl.edu 37 16 354351 354351 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 16 354351 354351 G A SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.1207 p.R403W 0.910 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 58 0 0 61 4 6.15385 GPT2 0 genome.wustl.edu 37 16 46960947 46960947 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 16 46960947 46960947 C T SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known silent c.1479 p.F493 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 85 0 0 63 14 18.1818 PLCG2 0 genome.wustl.edu 37 16 81944245 81944245 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 16 81944245 81944245 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1854 p.R618 0.010 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 276 0 0 266 17 6.00707 TOM1L2 0 genome.wustl.edu 37 17 17787971 17787971 + Missense_Mutation SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 17787971 17787971 A C SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known missense c.478 p.S160A 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 143 0 0 98 8 7.54717 MYO15A 0 genome.wustl.edu 37 17 18023036 18023036 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 18023036 18023036 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.922 p.G308S 0.996 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 152 0 0 75 10 11.7647 KCNJ12 0 genome.wustl.edu 37 17 21318662 21318662 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 21318662 21318662 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.8 p.A3V 0.628 pfam_K_chnl_inward-rec_Kir_N,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 52 0 0 44 4 8.33333 FZD2 0 genome.wustl.edu 37 17 42636454 42636454 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 42636454 42636454 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.1398 p.S466 0.992 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 74 0 0 38 18 32.1429 C17orf104 0 genome.wustl.edu 37 17 42744852 42744852 + Missense_Mutation SNP T T G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 42744852 42744852 T G SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known missense c.1573 p.L525V 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 42 0 0 30 5 14.2857 MARCH10 0 genome.wustl.edu 37 17 60813998 60813998 + Missense_Mutation SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 60813998 60813998 G T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.1231 p.Q411K 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 121 0 0 78 11 12.3596 KCNJ2 0 genome.wustl.edu 37 17 68172062 68172062 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 68172062 68172062 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known silent c.882 p.I294 0.018 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 83 0 0 62 13 17.3333 KLHL14 0 genome.wustl.edu 37 18 30350466 30350466 + Missense_Mutation SNP T T A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 18 30350466 30350466 T A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.89 p.Q30L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 93 0 0 47 18 27.6923 CELF4 0 genome.wustl.edu 37 18 34833736 34833736 + RNA SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 18 34833736 34833736 G A SNP CELF4 ENST00000590011 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CELF4 HGNC ENSG00000101489 58 0 0 24 7 22.5806 EPB41L3 0 genome.wustl.edu 37 18 5397408 5397408 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 18 5397408 5397408 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2490 p.T830 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,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 EPB41L3 HGNC ENSG00000082397 94 0 0 92 13 12.381 CDH20 0 genome.wustl.edu 37 18 59166663 59166663 + Missense_Mutation SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 18 59166663 59166663 A C SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.491 p.K164T 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 48 0 0 33 11 25 ANKRD12 0 genome.wustl.edu 37 18 9258528 9258528 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 18 9258528 9258528 A G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.5263 p.T1755A 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 43 0 0 59 6 9.23077 DDX39A 0 genome.wustl.edu 37 19 14522340 14522340 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 19 14522340 14522340 G A SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known missense c.407 p.S136F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 76 0 0 67 16 19.2771 ZNF91 0 genome.wustl.edu 37 19 23542926 23542926 + Missense_Mutation SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 19 23542926 23542926 G T SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.2855 p.T952N 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 65 0 0 73 5 6.41026 PSG7 0 genome.wustl.edu 37 19 43441313 43441313 + RNA SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 19 43441313 43441313 C T SNP PSG7 ENST00000471557 human ensembl 74_37 -1 known rna NULL NULL 0.504 - - - no_errors PSG7 HGNC ENSG00000221878 39 0 0 39 3 7.14286 OR1M1 0 genome.wustl.edu 37 19 9204308 9204308 + Silent SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 19 9204308 9204308 T C SNP OR1M1 ENST00000429566 human ensembl 74_37 +1 known silent c.388 p.L130 0.020 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 121 0 0 92 21 18.5841 POTEF 0 genome.wustl.edu 37 2 130832927 130832927 + Silent SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 130832927 130832927 A G SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.2118 p.A706 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 27 0 0 5 5 50 POTEF 0 genome.wustl.edu 37 2 130877735 130877735 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 130877735 130877735 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.354 p.G118 0.002 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 96 0 0 100 10 9.09091 TMEM163 0 genome.wustl.edu 37 2 135309655 135309655 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 135309655 135309655 G A SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 53 0 0 48 5 9.43396 DFNB59 0 genome.wustl.edu 37 2 179325944 179325944 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 179325944 179325944 G A SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known silent c.1002 p.K334 1.000 NULL pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 180 0 0 130 56 30.1075 TTN 0 genome.wustl.edu 37 2 179593239 179593239 + Missense_Mutation SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 179593239 179593239 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15682 p.L5228V 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 26 0 0 28 3 9.67742 FSIP2 0 genome.wustl.edu 37 2 186673555 186673555 + Missense_Mutation SNP T T G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 186673555 186673555 T G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19789 p.L6597V 0.004 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 60 0 0 59 12 16.9014 ERBB4 0 genome.wustl.edu 37 2 212576825 212576825 + Missense_Mutation SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 212576825 212576825 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1074 p.N358K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 51 0 0 57 7 10.9375 EIF2B4 0 genome.wustl.edu 37 2 27587343 27587343 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 27587343 27587343 A G SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.1496 p.L499P 0.999 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 85 0 0 61 26 29.8851 SNRNP200 0 genome.wustl.edu 37 2 96967313 96967313 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 2 96967313 96967313 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.523 p.L175 0.965 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 260 1 0.383142 97 154 61.3546 RALGAPB 0 genome.wustl.edu 37 20 37203564 37203564 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 20 37203564 37203564 A G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.4439 p.Y1480C 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 97 0 0 82 78 48.75 ZNFX1 0 genome.wustl.edu 37 20 47881369 47881369 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 20 47881369 47881369 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.2035 p.R679W 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 130 0 0 168 27 13.8462 EEF1A2 0 genome.wustl.edu 37 20 62126332 62126332 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 20 62126332 62126332 G A SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known silent c.447 p.I149 0.996 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 127 0 0 164 13 7.34463 IGLL1 0 genome.wustl.edu 37 22 23915718 23915718 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 22 23915718 23915718 A G SNP IGLL1 ENST00000330377 human ensembl 74_37 -1 known missense c.377 p.L126P 0.802 pfam_Ig_C1-set,pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL1 HGNC ENSG00000128322 97 0 0 89 5 5.31915 TCN2 0 genome.wustl.edu 37 22 31022488 31022488 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 22 31022488 31022488 C T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known silent c.1264 p.L422 0.994 NULL pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 64 0 0 66 5 7.04225 PHLDB2 0 genome.wustl.edu 37 3 111667811 111667811 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 3 111667811 111667811 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.2520 p.P840 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 66 0 0 51 5 8.92857 POGLUT1 0 genome.wustl.edu 37 3 119209420 119209420 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 3 119209420 119209420 G A SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.820 p.V274I 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 95 0 0 63 28 30.7692 DNAJC13 0 genome.wustl.edu 37 3 132172210 132172210 + Silent SNP A A C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 3 132172210 132172210 A C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.606 p.I202 0.998 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 52 0 0 36 3 7.69231 PDZRN3 0 genome.wustl.edu 37 3 73432887 73432887 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 3 73432887 73432887 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2830 p.R944W 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 64 0 0 38 12 24 LOC401127 0 genome.wustl.edu 37 4 39482848 39482848 + RNA SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 4 39482848 39482848 A G SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 83 0 0 58 4 6.45161 STX18 0 genome.wustl.edu 37 4 4543685 4543685 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 4 4543685 4543685 C T SNP STX18 ENST00000306200 human ensembl 74_37 -1 known missense c.7 p.V3M 1.000 NULL pfam_Syntaxin-18_N - no_errors STX18 HGNC ENSG00000168818 21 0 0 14 3 17.6471 AFM 0 genome.wustl.edu 37 4 74367522 74367522 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 4 74367522 74367522 G A SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.1665 p.V555 0.464 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 29 0 0 11 3 21.4286 BMP3 0 genome.wustl.edu 37 4 81967172 81967172 + Silent SNP T T A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 4 81967172 81967172 T A SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known silent c.597 p.S199 1.000 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 157 0 0 116 10 7.93651 SH3TC1 0 genome.wustl.edu 37 4 8229026 8229026 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 4 8229026 8229026 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known silent c.1605 p.D535 0.007 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 20 0 0 9 6 40 PDLIM4 0 genome.wustl.edu 37 5 131607859 131607859 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 131607859 131607859 G A SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known silent c.930 p.V310 1.000 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 46 0 0 42 8 16 APBB3 0 genome.wustl.edu 37 5 139938226 139938226 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 139938226 139938226 C T SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.1420 p.V474I 0.782 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 142 0 0 100 17 14.5299 SOX30 0 genome.wustl.edu 37 5 157073806 157073806 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 157073806 157073806 C T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 85 0 0 81 6 6.89655 SPDL1 0 genome.wustl.edu 37 5 169021405 169021405 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 169021405 169021405 G A SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 81 0 0 70 6 7.89474 ADAMTS2 0 genome.wustl.edu 37 5 178548684 178548684 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 178548684 178548684 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.3156 p.S1052 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 432 0 0 259 71 21.5152 NPR3 0 genome.wustl.edu 37 5 32724837 32724837 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 32724837 32724837 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.803 p.R268Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 60 0 0 34 11 24.4444 ERBB2IP 0 genome.wustl.edu 37 5 65349645 65349645 + Silent SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 65349645 65349645 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known silent c.2499 p.P833 0.021 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 49 0 0 38 8 17.3913 NR2F1 0 genome.wustl.edu 37 5 92923833 92923833 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 5 92923833 92923833 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 104 0 0 76 4 5 BVES 0 genome.wustl.edu 37 6 105573419 105573419 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 105573419 105573419 C T SNP BVES ENST00000314641 human ensembl 74_37 -1 known missense c.386 p.R129Q 1.000 pfam_Popeye_prot pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 94 0 0 75 11 12.7907 DDO 0 genome.wustl.edu 37 6 110729555 110729555 + Missense_Mutation SNP C C G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 110729555 110729555 C G SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.347 p.G116A 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 81 0 0 58 6 9.375 KIAA0408 0 genome.wustl.edu 37 6 127768472 127768472 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 127768472 127768472 G A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.992 p.S331L 0.994 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 92 0 0 41 6 12.766 MYLK4 0 genome.wustl.edu 37 6 2679676 2679676 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 2679676 2679676 G A SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known missense c.725 p.T242M 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 139 0 0 87 6 6.45161 SLC44A4 0 genome.wustl.edu 37 6 31839132 31839132 + Missense_Mutation SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 31839132 31839132 C A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.660 p.K220N 0.998 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 129 0 0 46 24 34.2857 DST 0 genome.wustl.edu 37 6 56392430 56392430 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 56392430 56392430 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17690 p.A5897V 0.997 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 36 0 0 22 7 24.1379 DSP 0 genome.wustl.edu 37 6 7586000 7586000 + Silent SNP C C G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 6 7586000 7586000 C G SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.8505 p.S2835 0.033 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 109 0 0 55 23 29.4872 LEP 0 genome.wustl.edu 37 7 127894645 127894645 + Silent SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 7 127894645 127894645 G T SNP LEP ENST00000308868 human ensembl 74_37 +1 known silent c.333 p.L111 0.995 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC ENSG00000174697 73 0 0 85 14 14.1414 CARD11 0 genome.wustl.edu 37 7 2977628 2977628 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 7 2977628 2977628 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.1056 p.S352 0.854 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 122 0 0 157 28 15.1351 ELMO1 0 genome.wustl.edu 37 7 37283994 37283994 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 7 37283994 37283994 C T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.416 p.R139Q 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 120 0 0 164 11 6.28571 ZNF733P 0 genome.wustl.edu 37 7 62752790 62752790 + RNA SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 7 62752790 62752790 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 16 0 0 28 10 26.3158 SLC35G5 0 genome.wustl.edu 37 8 11188977 11188977 + Missense_Mutation SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 8 11188977 11188977 C A SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.362 p.A121E 0.885 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 268 2 0.740741 167 31 15.6566 TOX 0 genome.wustl.edu 37 8 59764183 59764183 + Missense_Mutation SNP C C A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 8 59764183 59764183 C A SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.593 p.S198I 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 49 0 0 34 23 40.3509 SULF1 0 genome.wustl.edu 37 8 70515533 70515533 + Missense_Mutation SNP G G T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 8 70515533 70515533 G T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1168 p.D390Y 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 107 1 0.925926 96 9 8.57143 DECR1 0 genome.wustl.edu 37 8 91063919 91063919 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 8 91063919 91063919 C T SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known silent c.900 p.D300 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 31 0 0 16 10 38.4615 PRPF4 0 genome.wustl.edu 37 9 116041256 116041256 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 9 116041256 116041256 C T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known silent c.240 p.S80 1.000 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 126 0 0 63 12 16 SETX 0 genome.wustl.edu 37 9 135173685 135173685 + Missense_Mutation SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 9 135173685 135173685 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.5563 p.T1855A 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 60 0 0 48 5 9.43396 NSMF 0 genome.wustl.edu 37 9 140343924 140343924 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 9 140343924 140343924 C T SNP NSMF ENST00000371475 human ensembl 74_37 -1 known silent c.1515 p.T505 0.972 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 68 0 0 48 6 11.1111 PRUNE2 0 genome.wustl.edu 37 9 79441533 79441533 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 9 79441533 79441533 G A SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel silent c.624 p.I208 0.987 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 162 0 0 93 27 22.5 DCAF12L2 0 genome.wustl.edu 37 X 125299308 125299308 + Silent SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 125299308 125299308 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.600 p.V200 0.966 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 69 0 0 48 10 17.2414 GPR112 0 genome.wustl.edu 37 X 135426978 135426978 + Silent SNP T T C TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 135426978 135426978 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.1113 p.S371 0.033 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 59 0 0 33 28 45.9016 MAGEA10 0 genome.wustl.edu 37 X 151303075 151303075 + Nonsense_Mutation SNP T T A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 151303075 151303075 T A SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known nonsense c.1018 p.R340* 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 219 0 0 120 49 28.9941 GABRQ 0 genome.wustl.edu 37 X 151820033 151820033 + Missense_Mutation SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 151820033 151820033 C T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.946 p.R316W 0.998 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 135 0 0 63 55 46.6102 XK 0 genome.wustl.edu 37 X 37586943 37586943 + Missense_Mutation SNP A A G TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 37586943 37586943 A G SNP XK ENST00000378616 human ensembl 74_37 +1 known missense c.563 p.N188S 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 60 0 0 48 6 11.1111 SHOX 0 genome.wustl.edu 37 X 601735 601735 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 601735 601735 C T SNP SHOX ENST00000381578 human ensembl 74_37 +1 known silent c.546 p.G182 0.989 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 95 0 0 32 9 21.9512 RPS6KA6 0 genome.wustl.edu 37 X 83362033 83362033 + Missense_Mutation SNP G G A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 83362033 83362033 G A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1127 p.P376L 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 54 0 0 24 16 40 SHROOM2 0 genome.wustl.edu 37 X 9862716 9862716 + Silent SNP C C T TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b X 9862716 9862716 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.768 p.G256 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 26 0 0 22 3 12 ARID1A 0 genome.wustl.edu 37 1 27087887 27087905 + Frame_Shift_Del DEL CACCTCGGCCACCCAGTGG CACCTCGGCCACCCAGTGG - TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 CACCTCGGCCACCCAGTGG CACCTCGGCCACCCAGTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 1 27087887 27087905 CACCTCGGCCACCCAGTGG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.2174_2192 p.P726fs 1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.539:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 124 0 0 51 14 21.5385 TP53 0 genome.wustl.edu 37 17 7578266 7578267 + Frame_Shift_Ins INS - - A TCGA-BR-A4J8-01A-11D-A25D-08 TCGA-BR-A4J8-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 40a23613-19f9-4e3d-a90b-bc147f910427 2905bcb7-677a-4df3-bdf6-e134ef64213b 17 7578266 7578267 - A INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.583_582 p.I194fs 0.999:0.484 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 52 0 0 29 25 46.2963