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 ENSG00000234978 0 genome.wustl.edu 37 1 142804335 142804335 + RNA SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 142804335 142804335 T G SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.117 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 10 0 0 9 5 35.7143 PPIAL4G 0 genome.wustl.edu 37 1 143767465 143767465 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 143767465 143767465 G A SNP PPIAL4G ENST00000419275 human ensembl 74_37 -1 known silent c.384 p.A128 0.999 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4G HGNC ENSG00000236334 352 0 0 227 14 5.80913 POLR3C 0 genome.wustl.edu 37 1 145606349 145606349 + Silent SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 145606349 145606349 T G SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known silent c.604 p.R202 0.999 pfam_RNA_pol_III_Rpc82_C pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 73 0 0 42 15 26.3158 BCL9 0 genome.wustl.edu 37 1 147095649 147095649 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 147095649 147095649 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3170 p.G1057D 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 188 1 0.529101 102 24 19.0476 SNX27 0 genome.wustl.edu 37 1 151641106 151641106 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 151641106 151641106 C T SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.1144 p.H382Y 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 74 0 0 32 9 21.9512 TCHH 0 genome.wustl.edu 37 1 152081195 152081195 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 152081195 152081195 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4498 p.D1500N 0.034 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 135 0 0 78 27 25.7143 FLG 0 genome.wustl.edu 37 1 152280083 152280083 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 152280083 152280083 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7279 p.A2427T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 363 1 0.274725 195 73 27.2388 IVNS1ABP 0 genome.wustl.edu 37 1 185277943 185277943 + Silent SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 185277943 185277943 G T SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known silent c.346 p.R116 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,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 IVNS1ABP HGNC ENSG00000116679 120 0 0 63 26 29.2135 IGFN1 0 genome.wustl.edu 37 1 201195075 201195075 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 201195075 201195075 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10610 p.R3537H 0.961 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 23 0 0 10 3 23.0769 FMOD 0 genome.wustl.edu 37 1 203317347 203317347 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 203317347 203317347 C T SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.52 p.A18T 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 81 0 0 31 10 24.3902 CNR2 0 genome.wustl.edu 37 1 24201571 24201571 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 24201571 24201571 G A SNP CNR2 ENST00000374472 human ensembl 74_37 -1 known silent c.537 p.C179 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC ENSG00000188822 55 0 0 22 6 21.4286 SNIP1 0 genome.wustl.edu 37 1 38003393 38003393 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 38003393 38003393 C G SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.1147 p.D383H 0.998 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 136 0 0 82 20 19.6078 MYSM1 0 genome.wustl.edu 37 1 59125655 59125655 + RNA SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 59125655 59125655 T A SNP MYSM1 ENST00000401044 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MYSM1 HGNC ENSG00000162601 45 0 0 20 2 9.09091 SH3GLB1 0 genome.wustl.edu 37 1 87190089 87190089 + Splice_Site SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 1 87190089 87190089 G C SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known splice_site c.570+1 e5+1 1.000 - - - no_errors SH3GLB1 HGNC ENSG00000097033 19 0 0 13 5 27.7778 PLEKHS1 0 genome.wustl.edu 37 10 115534093 115534093 + Splice_Site SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 115534093 115534093 G A SNP PLEKHS1 ENST00000369310 human ensembl 74_37 +1 known splice_site c.761+1 e8+1 1.000 - - - no_errors PLEKHS1 HGNC ENSG00000148735 70 0 0 37 8 17.7778 WDR11 0 genome.wustl.edu 37 10 122668308 122668308 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 122668308 122668308 G A SNP WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC ENSG00000120008 21 0 0 11 6 35.2941 BMI1 0 genome.wustl.edu 37 10 22617625 22617625 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 22617625 22617625 C G SNP BMI1 ENST00000376663 human ensembl 74_37 +1 known missense c.568 p.Q190E 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 80 0 0 48 16 25 STOX1 0 genome.wustl.edu 37 10 70645583 70645583 + Silent SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 70645583 70645583 C A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known silent c.2031 p.G677 0.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 154 1 0.645161 119 29 19.5946 AIFM2 0 genome.wustl.edu 37 10 71876517 71876517 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 71876517 71876517 G A SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known silent c.630 p.S210 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 96 0 0 60 12 16.6667 ZSWIM8 0 genome.wustl.edu 37 10 75549954 75549954 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 75549954 75549954 C T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.845 p.S282L 0.995 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 65 0 0 43 12 21.8182 ITIH5 0 genome.wustl.edu 37 10 7608346 7608346 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 7608346 7608346 A G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2174 p.I725T 0.974 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 51 0 0 11 6 35.2941 GRID1 0 genome.wustl.edu 37 10 87484277 87484277 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 87484277 87484277 C A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1690 p.A564S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 70 0 0 28 11 28.2051 IFIT3 0 genome.wustl.edu 37 10 91099742 91099742 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 91099742 91099742 C T SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.1330 p.R444C 0.004 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 94 0 0 30 18 37.5 C10orf12 0 genome.wustl.edu 37 10 98741419 98741419 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 98741419 98741419 G T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.272 p.R91I 1.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 101 0 0 23 16 41.0256 RRP12 0 genome.wustl.edu 37 10 99140565 99140565 + Silent SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 10 99140565 99140565 C G SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.1524 p.V508 1.000 pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 54 0 0 6 13 68.4211 CDON 0 genome.wustl.edu 37 11 125891253 125891253 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 125891253 125891253 C T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.239 p.G80E 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 72 0 0 33 3 8.33333 KCNJ1 0 genome.wustl.edu 37 11 128709348 128709348 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 128709348 128709348 G A SNP KCNJ1 ENST00000392664 human ensembl 74_37 -1 known missense c.848 p.A283V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ1 HGNC ENSG00000151704 92 0 0 24 14 36.8421 SOX6 0 genome.wustl.edu 37 11 16007941 16007941 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 16007941 16007941 G C SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.1992 p.N664K 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 96 0 0 49 17 25.7576 MUC15 0 genome.wustl.edu 37 11 26587411 26587411 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 26587411 26587411 G T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.76 p.P26T 0.058 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 71 0 0 28 13 31.7073 ELP4 0 genome.wustl.edu 37 11 31784988 31784988 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 31784988 31784988 G C SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known missense c.1462 p.E488Q 1.000 NULL pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 101 0 0 55 7 11.2903 DEPDC7 0 genome.wustl.edu 37 11 33053076 33053076 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 33053076 33053076 G C SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known missense c.935 p.S312T 0.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 71 0 0 47 9 16.0714 OR51B4 0 genome.wustl.edu 37 11 5323107 5323107 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 5323107 5323107 G A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known missense c.70 p.R24W 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 86 0 0 24 11 31.4286 SPTBN2 0 genome.wustl.edu 37 11 66460149 66460149 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 66460149 66460149 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5048 p.A1683V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,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 SPTBN2 HGNC ENSG00000173898 29 0 0 14 6 30 OR6A2 0 genome.wustl.edu 37 11 6816879 6816879 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 11 6816879 6816879 G C SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known missense c.61 p.P21A 0.992 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 89 0 0 27 10 27.027 BTBD11 0 genome.wustl.edu 37 12 108004005 108004005 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 108004005 108004005 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 109 0 0 60 10 14.2857 TAS2R7 0 genome.wustl.edu 37 12 10954694 10954694 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 10954694 10954694 C A SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known missense c.476 p.C159F 0.000 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 57 0 0 19 9 32.1429 KNTC1 0 genome.wustl.edu 37 12 123060182 123060182 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 123060182 123060182 G T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.2475 p.M825I 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 17 0 0 6 7 53.8462 NCOR2 0 genome.wustl.edu 37 12 124862804 124862804 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 124862804 124862804 C G SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2146 p.E716Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 76 0 0 40 9 18.3673 GUCY2C 0 genome.wustl.edu 37 12 14804400 14804400 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 14804400 14804400 C A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.1651 p.V551L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 75 0 0 33 8 19.5122 PLEKHA8P1 0 genome.wustl.edu 37 12 45567963 45567963 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 45567963 45567963 G A SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.344 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 156 0 0 73 29 28.4314 KRT2 0 genome.wustl.edu 37 12 53040566 53040566 + Missense_Mutation SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 53040566 53040566 T A SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.1427 p.E476V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 137 0 0 97 23 19.1667 KRT79 0 genome.wustl.edu 37 12 53225213 53225213 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 53225213 53225213 G T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.675 p.D225E 0.006 pfam_IF,prints_Keratin_II pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 113 0 0 54 17 23.9437 LRIG3 0 genome.wustl.edu 37 12 59279648 59279648 + Silent SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 59279648 59279648 T C SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known silent c.1209 p.K403 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 263 0 0 157 46 22.6601 BEST3 0 genome.wustl.edu 37 12 70091576 70091576 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 70091576 70091576 C T SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 105 0 0 63 23 26.7442 NAV3 0 genome.wustl.edu 37 12 78582112 78582112 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 78582112 78582112 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5875 p.R1959C 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 51 0 0 46 7 13.2075 DCN 0 genome.wustl.edu 37 12 91545450 91545450 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 91545450 91545450 G A SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.866 p.A289V 0.980 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 46 0 0 33 2 5.71429 A2M 0 genome.wustl.edu 37 12 9227252 9227252 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 9227252 9227252 C A SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3660 p.Q1220H 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 34 0 0 19 7 26.9231 WNK1 0 genome.wustl.edu 37 12 922912 922912 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 922912 922912 A T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.864 p.E288D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 44 0 0 24 5 17.2414 WNK1 0 genome.wustl.edu 37 12 989017 989017 + Silent SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 989017 989017 G T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.4146 p.A1382 0.220 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 97 0 0 54 22 28.9474 EFNB2 0 genome.wustl.edu 37 13 107147295 107147295 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 107147295 107147295 G A SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.547 p.P183S 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 153 0 0 95 23 19.4915 ADPRHL1 0 genome.wustl.edu 37 13 114077206 114077206 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 114077206 114077206 G A SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known silent c.996 p.D332 0.934 superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 60 0 0 29 7 19.4444 TPTE2P6 0 genome.wustl.edu 37 13 25168489 25168489 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 25168489 25168489 G A SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.082 - - - no_errors TPTE2P6 HGNC ENSG00000205822 31 0 0 26 3 10.3448 RASL11A 0 genome.wustl.edu 37 13 27847365 27847365 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 27847365 27847365 C T SNP RASL11A ENST00000241463 human ensembl 74_37 +1 known missense c.463 p.R155W 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11A HGNC ENSG00000122035 41 0 0 17 7 29.1667 B3GALTL 0 genome.wustl.edu 37 13 31898019 31898019 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 31898019 31898019 C G SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.1316 p.P439R 1.000 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 322 0 0 86 82 48.8095 ENOX1 0 genome.wustl.edu 37 13 43986166 43986166 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 43986166 43986166 C G SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.94 p.A32P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 42 0 0 20 10 33.3333 CCDC122 0 genome.wustl.edu 37 13 44443470 44443470 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 44443470 44443470 C T SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.43 p.E15K 0.310 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 61 0 0 35 7 16.6667 PIBF1 0 genome.wustl.edu 37 13 73547774 73547774 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 73547774 73547774 A C SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.2010 p.Q670H 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 66 0 0 46 11 19.2982 EDNRB 0 genome.wustl.edu 37 13 78492668 78492668 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 13 78492668 78492668 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.41 p.A14V 0.993 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 32 0 0 14 8 36.3636 PACS2 0 genome.wustl.edu 37 14 105859631 105859631 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 105859631 105859631 G C SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.2555 p.R852P 0.999 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 40 0 0 12 12 50 OR4N2 0 genome.wustl.edu 37 14 20295867 20295867 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 20295867 20295867 C A SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.260 p.S87Y 0.906 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 141 0 0 66 25 27.4725 SDR39U1 0 genome.wustl.edu 37 14 24911974 24911974 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 24911974 24911974 A T SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.2 p.M1K 1.000 NULL pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 189 0 0 102 41 28.6713 GZMH 0 genome.wustl.edu 37 14 25078787 25078787 + Silent SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 25078787 25078787 A C SNP GZMH ENST00000216338 human ensembl 74_37 -1 known silent c.33 p.L11 0.926 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 118 0 0 56 22 28.2051 RTN1 0 genome.wustl.edu 37 14 60069806 60069806 + Silent SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 60069806 60069806 A C SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.2265 p.T755 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 59 0 0 29 12 29.2683 C14orf169 0 genome.wustl.edu 37 14 73959764 73959764 + RNA SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 73959764 73959764 A G SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.799 - - - no_errors C14orf169 HGNC ENSG00000255242 129 0 0 50 23 31.5068 SMEK1 0 genome.wustl.edu 37 14 91927850 91927850 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 91927850 91927850 G C SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.2266 p.L756V 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 183 0 0 88 26 22.807 SERPINA10 0 genome.wustl.edu 37 14 94756557 94756557 + Missense_Mutation SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 94756557 94756557 T A SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.374 p.K125M 0.006 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 44 0 0 26 6 18.75 OR4F15 0 genome.wustl.edu 37 15 102359303 102359303 + Missense_Mutation SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 102359303 102359303 T C SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known missense c.914 p.L305P 0.165 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 36 0 0 13 9 40.9091 ATP10A 0 genome.wustl.edu 37 15 25924998 25924998 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 25924998 25924998 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.3990 p.L1330 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 76 0 0 40 12 23.0769 FBN1 0 genome.wustl.edu 37 15 48808532 48808532 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 48808532 48808532 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1175 p.P392L 0.689 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 85 0 0 37 17 31.4815 DMXL2 0 genome.wustl.edu 37 15 51790812 51790812 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 51790812 51790812 A T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.4609 p.L1537M 0.989 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 59 0 0 34 8 19.0476 RFX7 0 genome.wustl.edu 37 15 56388648 56388648 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 56388648 56388648 C T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.1278 p.R426 0.993 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 32 0 0 16 7 30.4348 ANP32A 0 genome.wustl.edu 37 15 69080154 69080154 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 69080154 69080154 G A SNP ANP32A ENST00000465139 human ensembl 74_37 -1 known silent c.159 p.G53 1.000 NULL pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C - no_errors ANP32A HGNC ENSG00000140350 130 1 0.763359 90 23 20.354 CSK 0 genome.wustl.edu 37 15 75091016 75091016 + Nonsense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 75091016 75091016 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known nonsense c.76 p.Q26* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 36 0 0 17 10 37.037 FURIN 0 genome.wustl.edu 37 15 91423404 91423404 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 91423404 91423404 A T SNP FURIN ENST00000268171 human ensembl 74_37 +1 known missense c.1457 p.H486L 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 15 0 0 10 3 23.0769 SYNM 0 genome.wustl.edu 37 15 99670184 99670184 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 15 99670184 99670184 A G SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1616 p.E539G 0.997 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 46 0 0 35 26 42.623 SRCAP 0 genome.wustl.edu 37 16 30747914 30747914 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 16 30747914 30747914 A G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6977 p.E2326G 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 37 0 0 19 4 17.3913 CHD9 0 genome.wustl.edu 37 16 53272298 53272298 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 16 53272298 53272298 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.2677 p.I893V 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 67 0 0 44 16 26.6667 ACSF3 0 genome.wustl.edu 37 16 89187233 89187233 + Nonsense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 16 89187233 89187233 G A SNP ACSF3 ENST00000542688 human ensembl 74_37 +1 known nonsense c.1002 p.W334* 0.786 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 158 0 0 93 39 29.5455 GAS8 0 genome.wustl.edu 37 16 90103775 90103775 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 16 90103775 90103775 G A SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.892 p.A298T 0.000 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 44 0 0 17 11 39.2857 ELAC2 0 genome.wustl.edu 37 17 12905646 12905646 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 12905646 12905646 C G SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.1249 p.V417L 0.078 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 45 0 0 16 3 15.7895 ZNF287 0 genome.wustl.edu 37 17 16466545 16466545 + Silent SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 16466545 16466545 T C SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known silent c.630 p.G210 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 47 0 0 19 7 26.9231 TADA2A 0 genome.wustl.edu 37 17 35830563 35830563 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 35830563 35830563 A G SNP TADA2A ENST00000225396 human ensembl 74_37 +1 known missense c.955 p.M319V 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 130 0 0 65 17 20.7317 KRT33A 0 genome.wustl.edu 37 17 39505636 39505636 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 39505636 39505636 G A SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known silent c.393 p.I131 0.768 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 78 0 0 34 12 26.087 KRT37 0 genome.wustl.edu 37 17 39579089 39579089 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 39579089 39579089 C T SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known missense c.673 p.E225K 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 50 0 0 19 7 26.9231 FMNL1 0 genome.wustl.edu 37 17 43314722 43314722 + Silent SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 43314722 43314722 C A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.798 p.P266 0.965 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 61 0 0 26 9 25.7143 NFE2L1 0 genome.wustl.edu 37 17 46128617 46128617 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 46128617 46128617 C G SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.137 p.P46R 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 114 0 0 56 19 25.3333 HOXB3 0 genome.wustl.edu 37 17 46629484 46629484 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 46629484 46629484 C A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known missense c.353 p.G118V 0.422 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 198 0 0 84 25 22.9358 B4GALNT2 0 genome.wustl.edu 37 17 47219490 47219490 + Silent SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 47219490 47219490 G C SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known silent c.489 p.A163 0.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 133 0 0 46 13 22.0339 ABI3 0 genome.wustl.edu 37 17 47295217 47295217 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 47295217 47295217 G A SNP ABI3 ENST00000225941 human ensembl 74_37 +1 known silent c.402 p.T134 0.950 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 72 0 0 42 11 20.7547 DNAH17 0 genome.wustl.edu 37 17 76501424 76501424 + Missense_Mutation SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 76501424 76501424 T C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4895 p.K1632R 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 77 0 0 34 6 15 DNAH2 0 genome.wustl.edu 37 17 7674725 7674725 + Nonsense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 7674725 7674725 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known nonsense c.4440 p.W1480* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 116 0 0 51 21 29.1667 RCVRN 0 genome.wustl.edu 37 17 9801319 9801319 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 17 9801319 9801319 G A SNP RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RCVRN HGNC ENSG00000109047 25 0 0 18 8 30.7692 PIEZO2 0 genome.wustl.edu 37 18 10696150 10696150 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 10696150 10696150 C T SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.644 p.G215E 1.000 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 127 1 0.78125 79 17 17.7083 CEP192 0 genome.wustl.edu 37 18 13040842 13040842 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 13040842 13040842 A G SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.1823 p.Y608C 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 77 0 0 32 11 25.5814 DSG1 0 genome.wustl.edu 37 18 28934840 28934840 + Missense_Mutation SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 28934840 28934840 T G SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.2681 p.V894G 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 170 1 0.584795 125 33 20.8861 DSG4 0 genome.wustl.edu 37 18 28989416 28989416 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 28989416 28989416 G T SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.1935 p.L645F 0.597 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 139 0 0 95 27 22.1311 SLC25A52 0 genome.wustl.edu 37 18 29340618 29340618 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 29340618 29340618 C T SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known missense c.37 p.D13N 0.992 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 106 0 0 75 13 14.7727 MYOM1 0 genome.wustl.edu 37 18 3134758 3134758 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 3134758 3134758 C T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known silent c.2274 p.S758 0.018 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 84 0 0 44 17 27.8689 COLEC12 0 genome.wustl.edu 37 18 346782 346782 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 346782 346782 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known silent c.840 p.N280 0.075 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 50 0 0 52 10 16.129 KIAA1468 0 genome.wustl.edu 37 18 59928806 59928806 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 18 59928806 59928806 G C SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.2265 p.L755F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 80 0 0 26 15 36.5854 ICAM3 0 genome.wustl.edu 37 19 10449619 10449619 + Nonsense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 10449619 10449619 G A SNP ICAM3 ENST00000160262 human ensembl 74_37 -1 known nonsense c.82 p.Q28* 0.010 pfam_ICAM_N pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 61 0 0 31 11 26.1905 CACNA1A 0 genome.wustl.edu 37 19 13445285 13445285 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 13445285 13445285 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1105 p.R369W 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 57 0 0 37 12 24.4898 ARRDC2 0 genome.wustl.edu 37 19 18119572 18119572 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 18119572 18119572 C T SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known silent c.327 p.S109 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 42 0 0 16 12 42.8571 ARMC6 0 genome.wustl.edu 37 19 19162555 19162555 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 19162555 19162555 G T SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.404 p.G135V 0.996 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 58 0 0 38 7 15.5556 ARMC6 0 genome.wustl.edu 37 19 19162556 19162556 + Silent SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 19162556 19162556 G T SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known silent c.405 p.G135 0.891 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 59 0 0 38 7 15.5556 SLC25A42 0 genome.wustl.edu 37 19 19217190 19217190 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 19217190 19217190 G A SNP SLC25A42 ENST00000318596 human ensembl 74_37 +1 known missense c.493 p.E165K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 32 0 0 20 8 28.5714 IRF2BP1 0 genome.wustl.edu 37 19 46387319 46387319 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 46387319 46387319 G A SNP IRF2BP1 ENST00000302165 human ensembl 74_37 -1 known missense c.1714 p.L572F 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 26 0 0 7 2 22.2222 CCDC114 0 genome.wustl.edu 37 19 48807339 48807339 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 48807339 48807339 G T SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.613 p.Q205K 0.311 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 65 0 0 38 9 19.1489 GP6 0 genome.wustl.edu 37 19 55543747 55543747 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 55543747 55543747 A T SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.85 p.S29T 0.924 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 21 0 0 9 6 40 SUV420H2 0 genome.wustl.edu 37 19 55855158 55855158 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 55855158 55855158 C A SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.497 p.T166N 0.998 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 23 0 0 10 7 41.1765 MBD3L1 0 genome.wustl.edu 37 19 8953560 8953560 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 8953560 8953560 G T SNP MBD3L1 ENST00000305625 human ensembl 74_37 +1 known missense c.206 p.R69M 0.972 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 72 0 0 33 14 29.7872 LONRF2 0 genome.wustl.edu 37 2 100906807 100906807 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 100906807 100906807 C T SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known silent c.1833 p.A611 0.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 146 0 0 50 17 25.3731 TMEM185B 0 genome.wustl.edu 37 2 120979791 120979791 + Missense_Mutation SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 120979791 120979791 T G SNP TMEM185B ENST00000426077 human ensembl 74_37 -1 known missense c.762 p.L254F 0.002 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC ENSG00000226479 8 0 0 4 5 55.5556 SLC4A10 0 genome.wustl.edu 37 2 162738866 162738866 + Splice_Site SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 162738866 162738866 G C SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known splice_site c.1107-1 e10-1 1.000 - - - no_errors SLC4A10 HGNC ENSG00000144290 18 0 0 14 3 17.6471 PXDN 0 genome.wustl.edu 37 2 1691444 1691444 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 1691444 1691444 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.376 p.D126N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 22 0 0 11 7 38.8889 MYO3B 0 genome.wustl.edu 37 2 171264299 171264299 + Silent SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 171264299 171264299 A G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.2622 p.R874 0.944 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 201 0 0 139 33 19.186 NCKAP1 0 genome.wustl.edu 37 2 183843619 183843619 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 183843619 183843619 C G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.1384 p.E462Q 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 46 0 0 23 2 8 FSIP2 0 genome.wustl.edu 37 2 186671020 186671020 + Nonsense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 186671020 186671020 C T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known nonsense c.17254 p.Q5752* 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 43 0 0 41 8 16.3265 DNAH7 0 genome.wustl.edu 37 2 196756511 196756511 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 196756511 196756511 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4914 p.N1638K 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 45 0 0 22 9 29.0323 SMARCAL1 0 genome.wustl.edu 37 2 217285023 217285023 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 217285023 217285023 G A SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.864 p.M288I 1.000 pfam_HARP_dom pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 31 0 0 19 3 13.6364 C2orf62 0 genome.wustl.edu 37 2 219231774 219231774 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 219231774 219231774 C T SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known silent c.783 p.G261 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 38 0 0 19 9 32.1429 DNER 0 genome.wustl.edu 37 2 230282862 230282862 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 230282862 230282862 A T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.1571 p.V524D 0.552 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 69 0 0 31 7 18.4211 CAD 0 genome.wustl.edu 37 2 27456582 27456582 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 27456582 27456582 A G SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.3305 p.Y1102C 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 59 0 0 24 13 35.1351 ATP6V1B1 0 genome.wustl.edu 37 2 71191631 71191631 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 71191631 71191631 G A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.1207 p.G403S 1.000 superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 63 0 0 29 9 23.6842 SMYD5 0 genome.wustl.edu 37 2 73453064 73453064 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 73453064 73453064 C T SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.1247 p.T416I 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 43 0 0 24 4 14.2857 KIDINS220 0 genome.wustl.edu 37 2 8891763 8891763 + Missense_Mutation SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 8891763 8891763 T A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.3023 p.N1008I 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 46 0 0 29 10 25.641 TMEM131 0 genome.wustl.edu 37 2 98428986 98428986 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 98428986 98428986 G C SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.1761 p.D587E 0.996 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 55 0 0 28 7 20 CST4 0 genome.wustl.edu 37 20 23667771 23667771 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 23667771 23667771 G T SNP CST4 ENST00000217423 human ensembl 74_37 -1 known missense c.296 p.P99H 0.199 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 117 0 0 50 15 23.0769 DLGAP4 0 genome.wustl.edu 37 20 35075294 35075294 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 35075294 35075294 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.1602 p.S534 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 38 0 0 26 5 16.129 R3HDML 0 genome.wustl.edu 37 20 42973984 42973984 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 42973984 42973984 C T SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known missense c.595 p.R199W 0.045 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 126 0 0 120 16 11.7647 MATN4 0 genome.wustl.edu 37 20 43926977 43926977 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 43926977 43926977 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1382 p.R461H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 42 0 0 34 10 22.7273 ELMO2 0 genome.wustl.edu 37 20 45003240 45003240 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 45003240 45003240 G A SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1141 p.P381S 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 59 0 0 45 7 13.4615 ZFP64 0 genome.wustl.edu 37 20 50701719 50701719 + Nonsense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 50701719 50701719 C A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known nonsense c.1315 p.E439* 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 56 0 0 67 7 9.45946 ZFP64 0 genome.wustl.edu 37 20 50701720 50701720 + Silent SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 50701720 50701720 C A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known silent c.1314 p.G438 0.998 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 57 0 0 68 7 9.33333 LAMA5 0 genome.wustl.edu 37 20 60909066 60909066 + Silent SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 20 60909066 60909066 G C SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.2769 p.T923 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 17 0 0 22 8 26.6667 GSTT2 0 genome.wustl.edu 37 22 24323218 24323218 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 22 24323218 24323218 G C SNP GSTT2 ENST00000215780 human ensembl 74_37 +1 known missense c.192 p.L64F 0.005 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2 HGNC ENSG00000099984 168 0 0 65 18 21.6867 PES1 0 genome.wustl.edu 37 22 30975222 30975222 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 22 30975222 30975222 C G SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.1423 p.G475R 0.686 NULL pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 26 0 0 13 11 45.8333 C3orf17 0 genome.wustl.edu 37 3 112732835 112732835 + Silent SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 112732835 112732835 G T SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known silent c.306 p.G102 0.314 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 298 1 0.334448 134 38 22.093 NR1I2 0 genome.wustl.edu 37 3 119501683 119501683 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 119501683 119501683 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.79 p.E27K 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 50 0 0 19 5 20.8333 H1FX 0 genome.wustl.edu 37 3 129034479 129034479 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 129034479 129034479 G A SNP H1FX ENST00000333762 human ensembl 74_37 -1 known silent c.267 p.L89 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors H1FX HGNC ENSG00000184897 11 0 0 5 3 37.5 EPHB1 0 genome.wustl.edu 37 3 134873004 134873004 + Silent SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 134873004 134873004 C G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1308 p.T436 0.931 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 238 0 0 149 9 5.6962 SLC35G2 0 genome.wustl.edu 37 3 136573484 136573484 + Missense_Mutation SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 136573484 136573484 T C SNP SLC35G2 ENST00000393079 human ensembl 74_37 +1 known missense c.182 p.M61T 0.996 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 151 0 0 65 31 32.2917 SOX14 0 genome.wustl.edu 37 3 137483819 137483819 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 137483819 137483819 C T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.193 p.R65C 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 52 0 0 33 7 17.5 CCDC174 0 genome.wustl.edu 37 3 14712448 14712448 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 14712448 14712448 C G SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known missense c.1151 p.A384G 1.000 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 52 0 0 24 4 14.2857 MECOM 0 genome.wustl.edu 37 3 168833682 168833682 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 168833682 168833682 C G SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.1978 p.D660H 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 108 0 0 106 15 12.3967 MYNN 0 genome.wustl.edu 37 3 169492270 169492270 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 169492270 169492270 C G SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.187 p.L63V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 125 0 0 127 49 27.8409 TTC14 0 genome.wustl.edu 37 3 180321029 180321029 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 180321029 180321029 C G SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.404 p.S135C 0.998 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 138 0 0 120 34 22.0779 TTC14 0 genome.wustl.edu 37 3 180321108 180321108 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 180321108 180321108 C T SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known silent c.483 p.I161 1.000 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 89 0 0 91 20 18.018 TTC14 0 genome.wustl.edu 37 3 180322068 180322068 + Nonsense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 180322068 180322068 C G SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known nonsense c.542 p.S181* 0.999 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 83 0 0 53 15 22.0588 CCDC39 0 genome.wustl.edu 37 3 180397081 180397081 + Nonsense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 180397081 180397081 G A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known nonsense c.88 p.Q30* 0.100 superfamily_tRNA-bd_arm superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 130 0 0 112 19 14.5038 DVL3 0 genome.wustl.edu 37 3 183884726 183884726 + Silent SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 183884726 183884726 C G SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.1161 p.T387 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 99 0 0 77 14 15.3846 FGF12 0 genome.wustl.edu 37 3 192053245 192053245 + Missense_Mutation SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 192053245 192053245 T G SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.319 p.N107H 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 81 0 0 56 15 21.1268 MUC4 0 genome.wustl.edu 37 3 195515113 195515113 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 195515113 195515113 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.3338 p.V1113A 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 27 0 0 41 3 6.81818 TGFBR2 0 genome.wustl.edu 37 3 30729923 30729923 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 30729923 30729923 C A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1519 p.P507T 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 127 0 0 33 12 26.6667 CSRNP1 0 genome.wustl.edu 37 3 39186708 39186708 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 39186708 39186708 C A SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.245 p.G82V 0.178 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 38 0 0 25 8 24.2424 LYZL4 0 genome.wustl.edu 37 3 42445586 42445586 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 42445586 42445586 A C SNP LYZL4 ENST00000287748 human ensembl 74_37 -1 known missense c.323 p.I108S 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL4 HGNC ENSG00000157093 77 0 0 31 9 22.5 CHL1 0 genome.wustl.edu 37 3 432428 432428 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 432428 432428 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2515 p.S839R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 69 0 0 21 30 58.8235 SETD2 0 genome.wustl.edu 37 3 47098523 47098523 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 47098523 47098523 C G SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.6751 p.D2251H 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 58 0 0 20 5 20 ITPR1 0 genome.wustl.edu 37 3 4810221 4810221 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 4810221 4810221 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.5707 p.E1903K 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 35 0 0 16 5 23.8095 FAM212A 0 genome.wustl.edu 37 3 49842367 49842367 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 49842367 49842367 A T SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.811 p.M271L 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 112 0 0 60 23 27.7108 DOCK3 0 genome.wustl.edu 37 3 50971444 50971444 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 50971444 50971444 C A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.251 p.S84Y 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 45 0 0 20 5 20 ALAS1 0 genome.wustl.edu 37 3 52240613 52240613 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 52240613 52240613 G A SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known silent c.1011 p.G337 1.000 pfam_Aminotransferase_I/II,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 184 0 0 84 30 26.3158 PTPRG 0 genome.wustl.edu 37 3 62253086 62253086 + Silent SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 3 62253086 62253086 T C SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known silent c.2658 p.Y886 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 75 0 0 37 18 32.7273 TRIM60 0 genome.wustl.edu 37 4 165962340 165962340 + Silent SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 4 165962340 165962340 T A SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known silent c.1116 p.L372 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 125 0 0 66 18 21.4286 HAUS3 0 genome.wustl.edu 37 4 2242050 2242050 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 4 2242050 2242050 C G SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.624 p.E208D 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 10 0 0 4 5 55.5556 OTOP1 0 genome.wustl.edu 37 4 4199436 4199436 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 4 4199436 4199436 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known silent c.1125 p.D375 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 73 0 0 27 11 28.9474 GPRIN3 0 genome.wustl.edu 37 4 90170468 90170468 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 4 90170468 90170468 G T SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.794 p.P265H 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 66 0 0 18 17 48.5714 CEP120 0 genome.wustl.edu 37 5 122724215 122724215 + Silent SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 122724215 122724215 T A SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known silent c.1341 p.V447 0.997 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 178 1 0.558659 83 58 41.1348 HARS 0 genome.wustl.edu 37 5 140056692 140056692 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 140056692 140056692 G C SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.833 p.S278C 0.988 pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 239 0 0 129 39 23.2143 PCDHB1 0 genome.wustl.edu 37 5 140431212 140431212 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 140431212 140431212 G C SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.157 p.G53R 0.997 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 39 0 0 38 2 5 ARAP3 0 genome.wustl.edu 37 5 141033869 141033869 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 141033869 141033869 G A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.4283 p.T1428I 0.000 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 81 0 0 15 22 59.4595 SPARC 0 genome.wustl.edu 37 5 151043744 151043744 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 151043744 151043744 C T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known missense c.787 p.E263K 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 52 0 0 16 17 51.5152 DOCK2 0 genome.wustl.edu 37 5 169141060 169141060 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 169141060 169141060 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1688 p.S563N 0.996 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 75 0 0 41 4 8.88889 DOCK2 0 genome.wustl.edu 37 5 169141061 169141061 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 169141061 169141061 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.1689 p.S563 0.011 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 72 0 0 41 4 8.88889 FOXI1 0 genome.wustl.edu 37 5 169533040 169533040 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 169533040 169533040 G A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.79 p.E27K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 15 0 0 5 5 50 SLC45A2 0 genome.wustl.edu 37 5 33951616 33951616 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 33951616 33951616 C G SNP SLC45A2 ENST00000345083 human ensembl 74_37 -1 known missense c.875 p.W292S 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 172 0 0 87 28 24.3478 ADAMTS16 0 genome.wustl.edu 37 5 5200343 5200343 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 5200343 5200343 G T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1412 p.W471L 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 48 0 0 38 11 22.449 MOCS2 0 genome.wustl.edu 37 5 52397195 52397195 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 52397195 52397195 C T SNP MOCS2 ENST00000396954 human ensembl 74_37 -1 known missense c.371 p.R124K 1.000 pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE - no_errors MOCS2 HGNC ENSG00000164172 114 0 0 88 12 12 BDP1 0 genome.wustl.edu 37 5 70820113 70820113 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 70820113 70820113 A C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.5735 p.E1912A 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 97 0 0 61 14 18.6667 RASGRF2 0 genome.wustl.edu 37 5 80476075 80476075 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 80476075 80476075 G T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2768 p.R923L 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 160 0 0 79 62 43.9716 VCAN 0 genome.wustl.edu 37 5 82876166 82876166 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 82876166 82876166 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.10104 p.K3368N 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 64 0 0 51 14 21.5385 RTN4IP1 0 genome.wustl.edu 37 6 107067186 107067186 + Missense_Mutation SNP T T G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 107067186 107067186 T G SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.511 p.K171Q 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 72 0 0 27 11 28.9474 FIG4 0 genome.wustl.edu 37 6 110048374 110048374 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 110048374 110048374 G A SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.352 p.D118N 1.000 pfam_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 173 1 0.574713 49 25 33.7838 NEDD9 0 genome.wustl.edu 37 6 11191199 11191199 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 11191199 11191199 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.903 p.H301 0.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 81 0 0 20 16 44.4444 ATXN1 0 genome.wustl.edu 37 6 16327558 16327558 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 16327558 16327558 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.984 p.M328I 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 41 0 0 15 22 59.4595 POM121L2 0 genome.wustl.edu 37 6 27278557 27278557 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 27278557 27278557 A C SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.1393 p.F465V 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 9 0 0 7 3 30 LINC00243 0 genome.wustl.edu 37 6 30782235 30782235 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 30782235 30782235 G A SNP LINC00243 ENST00000399196 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LINC00243 HGNC ENSG00000214894 11 0 0 5 11 68.75 MUC21 0 genome.wustl.edu 37 6 30955089 30955089 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 30955089 30955089 G C SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.1137 p.E379D 0.000 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 174 1 0.571429 70 16 18.6047 TNXB 0 genome.wustl.edu 37 6 32032696 32032696 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 32032696 32032696 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6743 p.T2248I 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 29 0 0 12 30 71.4286 TREML2 0 genome.wustl.edu 37 6 41162572 41162572 + Splice_Site SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 41162572 41162572 C T SNP TREML2 ENST00000483722 human ensembl 74_37 -1 known splice_site c.377-1 e3-1 0.600 - - - no_errors TREML2 HGNC ENSG00000112195 52 0 0 17 10 37.037 ZNF318 0 genome.wustl.edu 37 6 43323884 43323884 + Splice_Site SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 43323884 43323884 C G SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known splice_site c.1189-1 e4-1 1.000 - - - no_errors ZNF318 HGNC ENSG00000171467 63 0 0 46 11 19.2982 RREB1 0 genome.wustl.edu 37 6 7211167 7211167 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 7211167 7211167 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.556 p.A186T 0.925 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 211 1 0.471698 116 7 5.69106 SLC35A1 0 genome.wustl.edu 37 6 88210354 88210354 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 6 88210354 88210354 C G SNP SLC35A1 ENST00000369552 human ensembl 74_37 +1 known missense c.323 p.A108G 1.000 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 77 0 0 21 12 36.3636 GIGYF1 0 genome.wustl.edu 37 7 100283967 100283967 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 100283967 100283967 C G SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.784 p.G262R 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 46 0 0 37 7 15.9091 COG5 0 genome.wustl.edu 37 7 106871079 106871079 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 106871079 106871079 G C SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.2242 p.R748G 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 197 0 0 120 36 23.0769 CAV1 0 genome.wustl.edu 37 7 116199067 116199067 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 116199067 116199067 G C SNP CAV1 ENST00000341049 human ensembl 74_37 +1 known missense c.263 p.S88T 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 51 0 0 38 6 13.6364 PLXNA4 0 genome.wustl.edu 37 7 132192842 132192842 + Missense_Mutation SNP A A C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 132192842 132192842 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.611 p.L204R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 121 0 0 56 16 22.2222 LUC7L2 0 genome.wustl.edu 37 7 139106914 139106914 + Nonsense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 139106914 139106914 C G SNP LUC7L2 ENST00000541515 human ensembl 74_37 +1 known nonsense c.1205 p.S402* 1.000 NULL pfam_Luc7-rel - no_errors LUC7L2 HGNC ENSG00000269955 66 0 0 32 19 37.2549 TAS2R60 0 genome.wustl.edu 37 7 143140947 143140947 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 143140947 143140947 G T SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.402 p.K134N 0.004 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 138 0 0 127 24 15.894 KCNH2 0 genome.wustl.edu 37 7 150645985 150645985 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 150645985 150645985 G C SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.2551 p.H851D 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 70 0 0 31 9 22.5 INTS1 0 genome.wustl.edu 37 7 1538092 1538092 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 1538092 1538092 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.1765 p.V589I 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 23 0 0 20 3 13.0435 FGL2 0 genome.wustl.edu 37 7 76825675 76825675 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 76825675 76825675 C A SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known missense c.1241 p.S414I 0.013 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 52 0 0 41 9 18 SEMA3E 0 genome.wustl.edu 37 7 83021901 83021901 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 83021901 83021901 C T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1637 p.R546Q 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 69 0 0 60 13 17.8082 PPP1R9A 0 genome.wustl.edu 37 7 94750141 94750141 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 94750141 94750141 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1646 p.G549V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 140 1 0.70922 79 24 23.301 OR2AE1 0 genome.wustl.edu 37 7 99474447 99474447 + Silent SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 99474447 99474447 A G SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known silent c.210 p.D70 0.199 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 OR2AE1 HGNC ENSG00000244623 94 0 0 66 21 24.1379 RGS22 0 genome.wustl.edu 37 8 101105676 101105676 + Missense_Mutation SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 101105676 101105676 G T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.116 p.P39Q 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 49 0 0 44 7 13.7255 PKHD1L1 0 genome.wustl.edu 37 8 110416883 110416883 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 110416883 110416883 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.1474 p.D492H 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 44 0 0 35 11 23.913 CSMD3 0 genome.wustl.edu 37 8 113694835 113694835 + Missense_Mutation SNP C C G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 113694835 113694835 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2513 p.G838A 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 92 0 0 78 12 13.3333 ZNF16 0 genome.wustl.edu 37 8 146156265 146156265 + Missense_Mutation SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 146156265 146156265 T A SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1908 p.K636N 0.405 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 105 0 0 80 21 20.7921 NAT2 0 genome.wustl.edu 37 8 18258347 18258347 + Silent SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 18258347 18258347 T C SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known silent c.834 p.N278 0.267 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 73 0 0 23 9 28.125 PRKDC 0 genome.wustl.edu 37 8 48697801 48697801 + Silent SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 48697801 48697801 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.10977 p.N3659 0.000 superfamily_Kinase-like_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 37 0 0 23 2 8 CPQ 0 genome.wustl.edu 37 8 97797143 97797143 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 97797143 97797143 C T SNP CPQ ENST00000220763 human ensembl 74_37 +1 known silent c.18 p.F6 0.347 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 101 1 0.980392 67 20 22.9885 POP1 0 genome.wustl.edu 37 8 99148887 99148887 + Nonsense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 8 99148887 99148887 A T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known nonsense c.1189 p.K397* 0.996 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 100 0 0 77 17 18.0851 CDK5RAP2 0 genome.wustl.edu 37 9 123330664 123330664 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 123330664 123330664 G A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.130 p.L44F 0.994 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 132 0 0 76 45 37.1901 ASB6 0 genome.wustl.edu 37 9 132400887 132400887 + Missense_Mutation SNP T T C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 132400887 132400887 T C SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.563 p.H188R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 33 0 0 18 9 33.3333 BRD3 0 genome.wustl.edu 37 9 136907050 136907050 + Silent SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 136907050 136907050 G C SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known silent c.1239 p.A413 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 20 0 0 13 3 18.75 LOC100996870 0 genome.wustl.edu 37 9 66466232 66466232 + RNA SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 66466232 66466232 C A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 37 0 0 26 4 13.3333 LOC100996870 0 genome.wustl.edu 37 9 66466234 66466234 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 66466234 66466234 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 35 0 0 25 4 13.7931 PRKACG 0 genome.wustl.edu 37 9 71628351 71628351 + Missense_Mutation SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 71628351 71628351 C T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.658 p.V220M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 61 0 0 26 7 21.2121 IDNK 0 genome.wustl.edu 37 9 86258577 86258577 + Missense_Mutation SNP A A T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 86258577 86258577 A T SNP IDNK ENST00000454393 human ensembl 74_37 +1 known missense c.575 p.Q192L 1.000 superfamily_P-loop_NTPase,tigrfam_Therm_gnt_kin pfam_Shikimate_kinase/TSH1,superfamily_P-loop_NTPase,tigrfam_Therm_gnt_kin - no_errors IDNK HGNC ENSG00000148057 116 0 0 62 38 38 ZNF169 0 genome.wustl.edu 37 9 97062923 97062923 + Silent SNP C C T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 97062923 97062923 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known silent c.1083 p.L361 0.042 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 ZNF169 HGNC ENSG00000175787 80 0 0 46 8 14.8148 MT-RNR2 0 genome.wustl.edu 37 MT 2571 2571 + RNA SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 MT 2571 2571 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 828 0 0 116 531 82.0711 GPRASP1 0 genome.wustl.edu 37 X 101911869 101911869 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 101911869 101911869 G A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3028 p.D1010N 0.997 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 74 0 0 20 23 53.4884 OCRL 0 genome.wustl.edu 37 X 128703265 128703265 + Missense_Mutation SNP G G C TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 128703265 128703265 G C SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.1491 p.W497C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 72 0 0 43 91 67.9104 FRMD7 0 genome.wustl.edu 37 X 131220027 131220027 + Nonsense_Mutation SNP T T A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 131220027 131220027 T A SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known nonsense c.418 p.K140* 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 85 0 0 22 108 83.0769 GLRA2 0 genome.wustl.edu 37 X 14592654 14592654 + Missense_Mutation SNP C C A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 14592654 14592654 C A SNP GLRA2 ENST00000355020 human ensembl 74_37 +1 known missense c.243 p.S81R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 80 0 0 40 22 35.4839 DMD 0 genome.wustl.edu 37 X 31947780 31947780 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 31947780 31947780 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6845 p.P2282L 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 63 0 0 24 18 42.8571 MXRA5 0 genome.wustl.edu 37 X 3235405 3235405 + Missense_Mutation SNP G G A TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 3235405 3235405 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6317 p.T2106M 1.000 pfam_Ig_I-set,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 12 0 0 4 3 42.8571 DMD 0 genome.wustl.edu 37 X 32834625 32834625 + Missense_Mutation SNP A A G TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 32834625 32834625 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.490 p.S164P 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 71 0 0 18 12 40 RGAG4 0 genome.wustl.edu 37 X 71350836 71350836 + Silent SNP G G T TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 71350836 71350836 G T SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known silent c.555 p.A185 0.003 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 23 0 0 7 11 61.1111 GOLGA2P5 0 genome.wustl.edu 37 12 100550982 100550984 + RNA DEL CTC CTC - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 100550982 100550984 CTC - DEL GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 49 0 0 37 4 9.7561 SLCO1B3 0 genome.wustl.edu 37 12 21036480 21036485 + In_Frame_Del DEL CATAAA CATAAA - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 CATAAA CATAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 21036480 21036485 CATAAA - DEL SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known in_frame_del c.1626_1631 p.IN543in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 100 0 0 44 8 15.3846 CALCOCO1 0 genome.wustl.edu 37 12 54108990 54108991 + Frame_Shift_Del DEL AG AG - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 12 54108990 54108991 AG - DEL CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known frame_shift_del c.1380_1379 p.S460fs 0.989:0.998 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 58 0 0 15 8 34.7826 CDH24 0 genome.wustl.edu 37 14 23523498 23523498 + Frame_Shift_Del DEL C C - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 23523498 23523498 C - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.824 p.G275fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 90 0 0 48 6 11.1111 ALDH6A1 0 genome.wustl.edu 37 14 74537897 74537908 + Splice_Site DEL CCTTCATGCTGT CCTTCATGCTGT - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 CCTTCATGCTGT CCTTCATGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 14 74537897 74537908 CCTTCATGCTGT - DEL ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known splice_site_del c.730+12_730+1 e7-1 1.000:1.000:0.989:1.000:1.000:1.000:1.000:1.000:0.748:1.000:1.000:1.000 - - - no_errors ALDH6A1 HGNC ENSG00000119711 128 0 0 63 5 7.35294 ZNF709 0 genome.wustl.edu 37 19 12576446 12576464 + Frame_Shift_Del DEL GTAAAAGTTTTCTTGTTTG GTAAAAGTTTTCTTGTTTG - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 GTAAAAGTTTTCTTGTTTG GTAAAAGTTTTCTTGTTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 12576446 12576464 GTAAAAGTTTTCTTGTTTG - DEL ZNF709 ENST00000397732 human ensembl 74_37 -1 known frame_shift_del c.290_272 p.P91fs 0.000:0.000:0.000:0.000:0.003:0.055:0.226:0.855:0.875:0.866:0.862:0.584:0.006:0.002:0.000:0.000:0.000:0.000:0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 57 0 0 16 7 30.4348 DPY19L3 0 genome.wustl.edu 37 19 32949027 32949029 + In_Frame_Del DEL GAT GAT - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 19 32949027 32949029 GAT - DEL DPY19L3 ENST00000342179 human ensembl 74_37 +1 known in_frame_del c.1111_1113 p.D371in_frame_del 1.000:1.000:0.998 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 44 0 0 15 7 31.8182 CXXC11 0 genome.wustl.edu 37 2 242814523 242814523 + Frame_Shift_Del DEL C C - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 2 242814523 242814523 C - DEL CXXC11 ENST00000343216 human ensembl 74_37 +1 known frame_shift_del c.816 p.G274fs 0.021 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 39 0 0 25 7 21.875 APC 0 genome.wustl.edu 37 5 112177228 112177228 + Frame_Shift_Del DEL C C - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 5 112177228 112177228 C - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.5937 p.N1979fs 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 82 0 0 32 21 39.6226 LAMB4 0 genome.wustl.edu 37 7 107744978 107744991 + Frame_Shift_Del DEL CCTCCAAGGAGCAT CCTCCAAGGAGCAT - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 CCTCCAAGGAGCAT CCTCCAAGGAGCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 107744978 107744991 CCTCCAAGGAGCAT - DEL LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_del c.957_944 p.D315fs 1.000:1.000:1.000:1.000:1.000:1.000:0.992:1.000:0.998:0.003:0.000:0.000:0.000:0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 134 0 0 85 13 13.2653 AKAP9 0 genome.wustl.edu 37 7 91631763 91631778 + Frame_Shift_Del DEL AAAGCAAAGGAACACT AAAGCAAAGGAACACT - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 AAAGCAAAGGAACACT AAAGCAAAGGAACACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 7 91631763 91631778 AAAGCAAAGGAACACT - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.2568_2583 p.E856fs 0.980:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.107 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 80 0 0 69 7 9.21053 GLE1 0 genome.wustl.edu 37 9 131295922 131295937 + Frame_Shift_Del DEL AGAGAAATTTGTGGTG AGAGAAATTTGTGGTG - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 AGAGAAATTTGTGGTG AGAGAAATTTGTGGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 131295922 131295937 AGAGAAATTTGTGGTG - DEL GLE1 ENST00000309971 human ensembl 74_37 +1 known frame_shift_del c.1443_1455 p.E482fs 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 134 0 0 114 14 10.9375 JAK2 0 genome.wustl.edu 37 9 5090820 5090839 + Frame_Shift_Del DEL GTTAAAATTGGAGATTTTGG GTTAAAATTGGAGATTTTGG - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 GTTAAAATTGGAGATTTTGG GTTAAAATTGGAGATTTTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 5090820 5090839 GTTAAAATTGGAGATTTTGG - DEL JAK2 ENST00000381652 human ensembl 74_37 +1 known frame_shift_del c.2968_2987 p.K991fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 201 0 0 86 17 16.5049 LOC100996870 0 genome.wustl.edu 37 9 66459932 66459933 + RNA DEL AA AA - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 9 66459932 66459933 AA - DEL LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.012 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 24 0 0 10 4 28.5714 MTMR8 0 genome.wustl.edu 37 X 63568642 63568643 + Frame_Shift_Del DEL AG AG - TCGA-BR-4191-01A-02D-1126-08 TCGA-BR-4191-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bcd5de9b-f68d-4829-9694-9cb4252e4600 84c5691b-e55b-4703-abe7-02ddf32d42f0 X 63568642 63568643 AG - DEL MTMR8 ENST00000374852 human ensembl 74_37 -1 known frame_shift_del c.630_629 p.S210fs 0.994:0.996 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 42 0 0 13 6 31.5789