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 PPIAL4A 0 genome.wustl.edu 37 1 147955256 147955256 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 147955256 147955256 A G SNP PPIAL4A ENST00000539781 human ensembl 74_37 -1 known missense c.89 p.L30P 0.972 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 PPIAL4A HGNC ENSG00000255963 25 0 0 13 6 31.5789 SPTA1 0 genome.wustl.edu 37 1 158605726 158605726 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 158605726 158605726 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5409 p.K1803N 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 251 1 0.396825 74 34 31.4815 FCRL6 0 genome.wustl.edu 37 1 159779403 159779403 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 159779403 159779403 G A SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known silent c.816 p.G272 0.029 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 95 0 0 35 11 23.913 RPL31P11 0 genome.wustl.edu 37 1 161654693 161654693 + RNA SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 161654693 161654693 A G SNP RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL31P11 HGNC ENSG00000213075 55 0 0 36 4 10 ANKRD45 0 genome.wustl.edu 37 1 173628361 173628361 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 173628361 173628361 G A SNP ANKRD45 ENST00000333279 human ensembl 74_37 -1 known missense c.197 p.A66V 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 104 0 0 44 31 41.3333 CACNA1E 0 genome.wustl.edu 37 1 181759657 181759657 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 181759657 181759657 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5863 p.A1955T 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 93 0 0 34 3 8.10811 LAD1 0 genome.wustl.edu 37 1 201355485 201355485 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 201355485 201355485 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.1046 p.R349H 0.165 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 12 0 0 11 5 31.25 TRAF3IP3 0 genome.wustl.edu 37 1 209933490 209933490 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 209933490 209933490 C T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.106 p.R36C 1.000 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 73 0 0 31 10 24.3902 ZBTB40 0 genome.wustl.edu 37 1 22816908 22816908 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 22816908 22816908 A G SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.467 p.E156G 0.097 NULL 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 ZBTB40 HGNC ENSG00000184677 401 0 0 141 34 19.4286 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 75 0 0 8 8 50 ABCD3 0 genome.wustl.edu 37 1 94956791 94956791 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 1 94956791 94956791 C T SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known silent c.1446 p.D482 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 60 0 0 30 3 9.09091 DUSP5 0 genome.wustl.edu 37 10 112257894 112257894 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 112257894 112257894 G A SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known silent c.15 p.S5 1.000 superfamily_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 50 0 0 10 5 33.3333 TDRD1 0 genome.wustl.edu 37 10 115947870 115947870 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 115947870 115947870 G A SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.280 p.G94R 0.740 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 185 0 0 83 5 5.68182 PDZD8 0 genome.wustl.edu 37 10 119044050 119044050 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 119044050 119044050 C A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.2194 p.V732F 0.556 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 102 0 0 52 16 23.5294 LRRC37A6P 0 genome.wustl.edu 37 10 27538569 27538569 + RNA SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 27538569 27538569 G A SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors LRRC37A6P HGNC ENSG00000230445 298 1 0.334448 179 10 5.29101 CDH23 0 genome.wustl.edu 37 10 73569654 73569654 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 73569654 73569654 G T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.2080 p.A694S 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 232 0 0 83 32 27.8261 C10orf12 0 genome.wustl.edu 37 10 98744132 98744132 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 10 98744132 98744132 C T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.2985 p.A995 0.930 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 166 0 0 65 32 32.9897 AMPD3 0 genome.wustl.edu 37 11 10515007 10515007 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 10515007 10515007 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.1051 p.R351W 0.359 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 161 0 0 54 18 25 ENSG00000268467 0 genome.wustl.edu 37 11 107463126 107463126 + Silent SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 107463126 107463126 G T SNP ENSG00000268467 ENST00000600612 human ensembl 74_37 +1 known silent c.324 p.G108 1.000 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 58 0 0 14 5 26.3158 OPCML 0 genome.wustl.edu 37 11 132290035 132290035 + RNA SNP A A T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 132290035 132290035 A T SNP OPCML ENST00000529038 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors OPCML HGNC ENSG00000183715 75 0 0 32 9 21.9512 NELL1 0 genome.wustl.edu 37 11 20907026 20907026 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 20907026 20907026 C A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.543 p.N181K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 78 0 0 56 12 17.6471 ACCSL 0 genome.wustl.edu 37 11 44077864 44077864 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 44077864 44077864 C A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.1315 p.L439I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 32 0 0 28 4 12.5 FOLH1 0 genome.wustl.edu 37 11 49208203 49208203 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 49208203 49208203 C A SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.632 p.G211V 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 82 0 0 52 6 10.3448 HBG1 0 genome.wustl.edu 37 11 5269687 5269687 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 5269687 5269687 C A SNP HBG1 ENST00000330597 human ensembl 74_37 -1 known missense c.346 p.A116S 0.534 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG1 HGNC ENSG00000213934 59 0 0 23 9 28.125 OR5T2 0 genome.wustl.edu 37 11 56000542 56000542 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 56000542 56000542 G T SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.120 p.F40L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 93 0 0 68 25 26.8817 YPEL4 0 genome.wustl.edu 37 11 57413862 57413862 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 57413862 57413862 C T SNP YPEL4 ENST00000300022 human ensembl 74_37 -1 known missense c.202 p.G68R 1.000 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL4 HGNC ENSG00000166793 107 0 0 35 5 12.5 FOLH1B 0 genome.wustl.edu 37 11 89391905 89391905 + RNA SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 89391905 89391905 G T SNP FOLH1B ENST00000526379 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 42 0 0 27 6 18.1818 WEE1 0 genome.wustl.edu 37 11 9610042 9610042 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 9610042 9610042 G T SNP WEE1 ENST00000450114 human ensembl 74_37 +1 known missense c.1834 p.A612S 1.000 superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 141 0 0 57 23 28.75 HVCN1 0 genome.wustl.edu 37 12 111099055 111099055 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 111099055 111099055 C T SNP HVCN1 ENST00000242607 human ensembl 74_37 -1 known missense c.220 p.V74I 0.000 NULL pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 114 0 0 48 16 25 GCN1L1 0 genome.wustl.edu 37 12 120600695 120600695 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 120600695 120600695 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.2119 p.D707N 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 108 0 0 44 36 45 RSRC2 0 genome.wustl.edu 37 12 123011437 123011437 + RNA SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 123011437 123011437 T C SNP RSRC2 ENST00000527461 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RSRC2 HGNC ENSG00000111011 138 0 0 53 6 10.1695 TMEM132D 0 genome.wustl.edu 37 12 129559375 129559375 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 129559375 129559375 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2345 p.R782Q 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 182 0 0 110 30 21.4286 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 111 0 0 56 13 18.8406 KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 25380275 25380275 T G SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.183 p.Q61H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 90 0 0 50 23 31.5068 LRP1 0 genome.wustl.edu 37 12 57572341 57572341 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 57572341 57572341 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4561 p.Q1521K 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 202 0 0 55 50 47.619 MON2 0 genome.wustl.edu 37 12 62954269 62954269 + Splice_Site SNP A A T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 62954269 62954269 A T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known splice_site c.3413-2 e27-2 0.986 - - - no_errors MON2 HGNC ENSG00000061987 120 0 0 112 6 5.08475 CD27 0 genome.wustl.edu 37 12 6560573 6560573 + RNA SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 6560573 6560573 G T SNP CD27 ENST00000541233 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CD27 HGNC ENSG00000139193 48 0 0 29 3 9.375 NOP2 0 genome.wustl.edu 37 12 6670140 6670140 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 6670140 6670140 G A SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.1304 p.T435I 1.000 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 60 0 0 19 4 17.3913 CHD4 0 genome.wustl.edu 37 12 6692406 6692406 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 12 6692406 6692406 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4018 p.R1340C 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 335 0 0 73 140 65.7277 RASA3 0 genome.wustl.edu 37 13 114780806 114780806 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 13 114780806 114780806 C T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known silent c.1284 p.E428 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 127 0 0 32 9 21.9512 ATP8A2 0 genome.wustl.edu 37 13 26106423 26106423 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 13 26106423 26106423 C A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.434 p.A145E 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A2 HGNC ENSG00000132932 69 0 0 30 5 14.2857 EEF1DP3 0 genome.wustl.edu 37 13 32527529 32527529 + RNA SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 13 32527529 32527529 A G SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors EEF1DP3 HGNC ENSG00000229715 62 0 0 30 3 9.09091 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 21 0 0 4 8 66.6667 PRKD1 0 genome.wustl.edu 37 14 30068863 30068863 + Missense_Mutation SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 14 30068863 30068863 T C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2066 p.Q689R 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_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 130 0 0 79 14 15.0538 AK7 0 genome.wustl.edu 37 14 96904253 96904253 + Splice_Site SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 14 96904253 96904253 G A SNP AK7 ENST00000267584 human ensembl 74_37 +1 known splice_site c.690+1 e6+1 1.000 - - - no_errors AK7 HGNC ENSG00000140057 66 0 0 24 10 29.4118 TP53BP1 0 genome.wustl.edu 37 15 43712659 43712659 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 15 43712659 43712659 C A SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.4525 p.G1509W 1.000 pfam_53-BP1_Tudor pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 456 0 0 108 130 54.6218 SH3GL3 0 genome.wustl.edu 37 15 84255786 84255786 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 15 84255786 84255786 C T SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known missense c.700 p.H234Y 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 31 0 0 11 7 38.8889 AQP8 0 genome.wustl.edu 37 16 25228603 25228603 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 25228603 25228603 C T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.97 p.R33W 0.735 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 503 0 0 176 39 18.1395 HERC2P4 0 genome.wustl.edu 37 16 32163525 32163525 + RNA SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 32163525 32163525 G A SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.823 - - - no_errors HERC2P4 HGNC ENSG00000230267 76 0 0 55 6 9.83607 CAPN15 0 genome.wustl.edu 37 16 597504 597504 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 597504 597504 C T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known silent c.666 p.A222 0.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 64 0 0 14 2 12.5 RLTPR 0 genome.wustl.edu 37 16 67683840 67683840 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 67683840 67683840 G T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.2051 p.R684L 0.998 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 48 0 0 27 4 12.9032 CDH1 0 genome.wustl.edu 37 16 68844181 68844181 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 68844181 68844181 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.769 p.D257N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 224 0 0 54 52 49.0566 WWOX 0 genome.wustl.edu 37 16 78420768 78420768 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 78420768 78420768 G T SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.528 p.K176N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 128 0 0 54 12 18.1818 IL17C 0 genome.wustl.edu 37 16 88705717 88705717 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 16 88705717 88705717 G A SNP IL17C ENST00000244241 human ensembl 74_37 +1 known missense c.335 p.R112H 1.000 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17C HGNC ENSG00000124391 30 0 0 9 4 30.7692 TMEM199 0 genome.wustl.edu 37 17 26686415 26686415 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 26686415 26686415 C T SNP TMEM199 ENST00000509083 human ensembl 74_37 +1 known silent c.363 p.N121 0.995 pfam_ATPase_Vma12 pfam_ATPase_Vma12 - no_errors TMEM199 HGNC ENSG00000244045 89 0 0 33 13 28.2609 NF1 0 genome.wustl.edu 37 17 29662040 29662040 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 29662040 29662040 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.5997 p.S1999 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 78 0 0 43 8 15.6863 KRTAP9-2 0 genome.wustl.edu 37 17 39383335 39383335 + Silent SNP C C G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 39383335 39383335 C G SNP KRTAP9-2 ENST00000377721 human ensembl 74_37 +1 known silent c.429 p.P143 0.740 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 132 0 0 48 3 5.88235 LOC100505782 0 genome.wustl.edu 37 17 39580816 39580816 + RNA SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 39580816 39580816 G C SNP LOC100505782 ENST00000432258 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 91 0 0 38 4 9.52381 MAPT 0 genome.wustl.edu 37 17 44073913 44073913 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 44073913 44073913 G A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.1710 p.S570 0.905 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 46 0 0 19 10 34.4828 GRIN2C 0 genome.wustl.edu 37 17 72846372 72846372 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 17 72846372 72846372 G A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known silent c.1464 p.R488 0.550 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 199 0 0 85 27 24.1071 DYNAP 0 genome.wustl.edu 37 18 52265293 52265293 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 52265293 52265293 G T SNP DYNAP ENST00000321600 human ensembl 74_37 +1 known missense c.550 p.A184S 0.000 NULL NULL - no_errors DYNAP HGNC ENSG00000178690 172 0 0 61 12 16.4384 TNFRSF11A 0 genome.wustl.edu 37 18 60027241 60027241 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 60027241 60027241 C T SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known missense c.575 p.A192V 0.999 smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 149 0 0 49 4 7.54717 LAMA1 0 genome.wustl.edu 37 18 7049076 7049076 + Splice_Site SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 7049076 7049076 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known splice_site c.768+1 e5+1 1.000 - - - no_errors LAMA1 HGNC ENSG00000101680 143 1 0.694444 49 32 39.5062 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 56 0 0 7 12 63.1579 WDR83OS 0 genome.wustl.edu 37 19 12779424 12779424 + Nonsense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 12779424 12779424 C T SNP WDR83OS ENST00000596731 human ensembl 74_37 -1 known nonsense c.164 p.W55* 1.000 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC ENSG00000105583 64 0 0 30 13 30.2326 EPHX3 0 genome.wustl.edu 37 19 15342889 15342889 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 15342889 15342889 G A SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.134 p.T45M 0.279 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 20 0 0 6 4 40 ZNF85 0 genome.wustl.edu 37 19 21131567 21131567 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 21131567 21131567 G C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.247 p.A83P 0.050 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 166 0 0 83 19 18.6275 ZNF728 0 genome.wustl.edu 37 19 23159779 23159779 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 23159779 23159779 C A SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.360 p.V120 0.022 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 78 0 0 46 13 22.0339 ZNF555 0 genome.wustl.edu 37 19 2852504 2852504 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 2852504 2852504 G A SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known silent c.441 p.T147 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF555 HGNC ENSG00000186300 132 0 0 71 7 8.97436 ANKRD24 0 genome.wustl.edu 37 19 4216835 4216835 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 4216835 4216835 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.1678 p.E560K 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 31 0 0 13 2 13.3333 PSG4 0 genome.wustl.edu 37 19 43709647 43709647 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 43709647 43709647 G A SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known silent c.42 p.T14 0.215 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG4 HGNC ENSG00000243137 81 0 0 47 8 14.5455 BAX 0 genome.wustl.edu 37 19 49464847 49464847 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 49464847 49464847 C T SNP BAX ENST00000345358 human ensembl 74_37 +1 known missense c.533 p.A178V 0.870 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 28 0 0 9 4 30.7692 KLK13 0 genome.wustl.edu 37 19 51563819 51563819 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 51563819 51563819 G T SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.110 p.P37Q 0.961 superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 200 0 0 133 7 5 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 390 1 0.255754 153 44 22.335 KIR3DL1 0 genome.wustl.edu 37 19 55329854 55329854 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 55329854 55329854 G A SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.155 p.R52H 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 32 0 0 28 5 15.1515 KIR3DL1 0 genome.wustl.edu 37 19 55329892 55329892 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 55329892 55329892 A G SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.193 p.R65G 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 32 0 0 15 4 21.0526 ZNF805 0 genome.wustl.edu 37 19 57765432 57765432 + Silent SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 57765432 57765432 A G SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known silent c.1245 p.K415 0.000 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 ZNF805 HGNC ENSG00000204524 67 0 0 60 4 6.25 ZNF606 0 genome.wustl.edu 37 19 58512020 58512020 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 58512020 58512020 C A SNP ZNF606 ENST00000546715 human ensembl 74_37 -1 putative missense c.119 p.C40F 0.000 NULL NULL - no_errors ZNF606 HGNC ENSG00000166704 102 0 0 33 11 25 C3 0 genome.wustl.edu 37 19 6707512 6707512 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 6707512 6707512 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2012 p.R671H 0.984 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 212 0 0 72 15 17.2414 OR7D2 0 genome.wustl.edu 37 19 9296503 9296503 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 9296503 9296503 G A SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known missense c.46 p.G16R 0.177 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 65 0 0 36 29 44.6154 ZNF560 0 genome.wustl.edu 37 19 9578204 9578204 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 19 9578204 9578204 T C SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known silent c.1419 p.S473 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 358 0 0 243 49 16.7808 CNTNAP5 0 genome.wustl.edu 37 2 125204502 125204502 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 125204502 125204502 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.906 p.D302E 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 121 1 0.819672 42 12 22.2222 LOC150776 0 genome.wustl.edu 37 2 132275343 132275343 + RNA SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 132275343 132275343 G T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 68 0 0 22 4 15.3846 TTN 0 genome.wustl.edu 37 2 179419223 179419223 + Silent SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 179419223 179419223 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81147 p.G27049 0.244 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0 21 6 22.2222 TTN 0 genome.wustl.edu 37 2 179605938 179605938 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 179605938 179605938 G C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11509 p.L3837V 0.849 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 132 0 0 118 17 12.5926 NEUROD1 0 genome.wustl.edu 37 2 182542847 182542847 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 182542847 182542847 G A SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.741 p.H247 0.995 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 163 0 0 64 21 24.7059 ERBB4 0 genome.wustl.edu 37 2 212543834 212543834 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 212543834 212543834 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1565 p.S522L 0.997 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 46 0 0 19 10 34.4828 STK11IP 0 genome.wustl.edu 37 2 220473355 220473355 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 220473355 220473355 G A SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.1654 p.V552I 0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 72 0 0 41 4 8.88889 CCDC142 0 genome.wustl.edu 37 2 74709311 74709311 + Missense_Mutation SNP T T G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 74709311 74709311 T G SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.654 p.K218N 0.000 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 172 0 0 14 5 26.3158 ASTL 0 genome.wustl.edu 37 2 96795681 96795681 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 96795681 96795681 T C SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.756 p.T252 0.004 pfam_Peptidase_M12A pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 113 1 0.877193 36 16 30.7692 PYGB 0 genome.wustl.edu 37 20 25259006 25259006 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 20 25259006 25259006 G T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.907 p.A303S 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 108 0 0 31 3 8.82353 TMC2 0 genome.wustl.edu 37 20 2575516 2575516 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 20 2575516 2575516 C A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.979 p.Q327K 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 126 0 0 50 18 26.4706 CPNE1 0 genome.wustl.edu 37 20 34214214 34214214 + Silent SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 20 34214214 34214214 G T SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.1578 p.L526 0.172 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 303 0 0 116 12 9.375 JPH2 0 genome.wustl.edu 37 20 42744650 42744650 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 20 42744650 42744650 C A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.1665 p.S555 0.002 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 15 0 0 5 3 37.5 CDH4 0 genome.wustl.edu 37 20 60485655 60485655 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 20 60485655 60485655 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1366 p.V456M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 89 0 0 40 4 9.09091 CYYR1 0 genome.wustl.edu 37 21 27945305 27945305 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 21 27945305 27945305 C T SNP CYYR1 ENST00000435845 human ensembl 74_37 -1 known silent c.279 p.P93 0.000 NULL pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 56 0 0 21 8 27.5862 CCT8 0 genome.wustl.edu 37 21 30434528 30434528 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 21 30434528 30434528 C T SNP CCT8 ENST00000286788 human ensembl 74_37 -1 known missense c.1133 p.R378Q 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 186 0 0 90 25 21.7391 KRTAP10-3 0 genome.wustl.edu 37 21 45978128 45978128 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 21 45978128 45978128 G A SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known silent c.471 p.S157 0.007 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 343 0 0 103 33 24.2647 FTCD 0 genome.wustl.edu 37 21 47574136 47574136 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 21 47574136 47574136 C T SNP FTCD ENST00000359679 human ensembl 74_37 -1 known silent c.165 p.P55 0.000 pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 121 0 0 39 11 22 ENSG00000206195 0 genome.wustl.edu 37 22 16150993 16150993 + RNA SNP T T A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 22 16150993 16150993 T A SNP ENSG00000206195 ENST00000413768 human ensembl 74_37 -1 known rna NULL NULL 0.487 - - - no_errors AP000525.9 Clone_based_vega_gene ENSG00000206195 24 0 0 10 4 28.5714 POLR2F 0 genome.wustl.edu 37 22 38352792 38352792 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 22 38352792 38352792 C T SNP POLR2F ENST00000442738 human ensembl 74_37 +1 known silent c.33 p.D11 0.532 superfamily_Pol_omega/K/RPB6 pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 - no_errors POLR2F HGNC ENSG00000100142 115 0 0 43 12 21.8182 ACO2 0 genome.wustl.edu 37 22 41911464 41911464 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 22 41911464 41911464 C T SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known silent c.609 p.G203 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 173 0 0 41 13 24.0741 FSTL1 0 genome.wustl.edu 37 3 120128474 120128474 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 120128474 120128474 G A SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.367 p.R123C 0.988 NULL pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 123 0 0 35 24 40.678 MED12L 0 genome.wustl.edu 37 3 150834128 150834128 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 150834128 150834128 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.103 p.E35K 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 48 0 0 31 9 22.5 IGSF10 0 genome.wustl.edu 37 3 151165492 151165492 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 151165492 151165492 C A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.2277 p.L759 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 109 0 0 53 13 19.697 EFHB 0 genome.wustl.edu 37 3 19961394 19961394 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 19961394 19961394 G A SNP EFHB ENST00000295824 human ensembl 74_37 -1 known silent c.927 p.Y309 0.990 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 205 0 0 83 29 25.8929 ULK4 0 genome.wustl.edu 37 3 41288432 41288432 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 41288432 41288432 G A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known silent c.3816 p.A1272 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 41 0 0 13 4 23.5294 NKTR 0 genome.wustl.edu 37 3 42680413 42680413 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 42680413 42680413 G A SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.3217 p.V1073M 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 137 0 0 70 31 30.6931 ATXN7 0 genome.wustl.edu 37 3 63981540 63981540 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 63981540 63981540 G C SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.2042 p.R681T 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 161 0 0 64 11 14.6667 ARL6IP5 0 genome.wustl.edu 37 3 69134225 69134225 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 69134225 69134225 C T SNP ARL6IP5 ENST00000273258 human ensembl 74_37 +1 known silent c.27 p.R9 0.930 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors ARL6IP5 HGNC ENSG00000144746 98 0 0 40 13 24.5283 MITF 0 genome.wustl.edu 37 3 70014308 70014308 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 70014308 70014308 A G SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.1490 p.D497G 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 115 0 0 55 19 25.6757 BANK1 0 genome.wustl.edu 37 4 102776247 102776247 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 102776247 102776247 T C SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known silent c.525 p.S175 0.002 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 77 0 0 43 21 32.8125 TRPC3 0 genome.wustl.edu 37 4 122800956 122800956 + Nonsense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 122800956 122800956 C A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known nonsense c.2701 p.E901* 1.000 prints_TRPC3_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 99 0 0 55 16 22.5352 PCDH10 0 genome.wustl.edu 37 4 134076167 134076167 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 134076167 134076167 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2786 p.A929D 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 105 0 0 43 14 24.5614 LRBA 0 genome.wustl.edu 37 4 151242451 151242451 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 151242451 151242451 G C SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.7555 p.P2519A 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 129 0 0 71 25 26.0417 HTT 0 genome.wustl.edu 37 4 3134614 3134614 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 3134614 3134614 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.2469 p.C823 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 253 0 0 107 43 28.6667 LOC101930019 0 genome.wustl.edu 37 4 758712 758712 + RNA SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 758712 758712 G A SNP LOC101930019 ENST00000454037 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC139887.4 Clone_based_vega_gene ENSG00000233799 35 0 0 14 2 12.5 AFAP1 0 genome.wustl.edu 37 4 7787971 7787971 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 7787971 7787971 G A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1480 p.P494S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 223 0 0 95 34 26.3566 GAK 0 genome.wustl.edu 37 4 877125 877125 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 4 877125 877125 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.1382 p.R461Q 1.000 pfscan_Phosphatase_tensin-typ pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 146 0 0 56 17 23.2877 SLCO6A1 0 genome.wustl.edu 37 5 101813546 101813546 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 101813546 101813546 C A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.636 p.K212N 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 190 0 0 86 23 21.1009 IRF1 0 genome.wustl.edu 37 5 131823676 131823676 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 131823676 131823676 C T SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known silent c.129 p.K43 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 97 0 0 49 5 9.25926 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 227 1 0.438596 52 38 42.2222 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 230 0 0 48 56 53.8462 PCDHB7 0 genome.wustl.edu 37 5 140553614 140553614 + Missense_Mutation SNP T T G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 140553614 140553614 T G SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1198 p.F400V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 102 0 0 50 15 23.0769 FGF18 0 genome.wustl.edu 37 5 170863172 170863172 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 170863172 170863172 C T SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.145 p.R49C 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 65 0 0 19 8 29.6296 DBN1 0 genome.wustl.edu 37 5 176886156 176886156 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 176886156 176886156 C T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.1075 p.D359N 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 219 0 0 66 10 13.1579 RASGEF1C 0 genome.wustl.edu 37 5 179529124 179529124 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 179529124 179529124 G A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.1323 p.Y441 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 71 0 0 43 5 10.4167 FLT4 0 genome.wustl.edu 37 5 180045909 180045909 + Silent SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 180045909 180045909 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.2862 p.P954 0.001 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 22 0 0 3 4 57.1429 HTR1A 0 genome.wustl.edu 37 5 63256626 63256626 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 63256626 63256626 C A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.921 p.L307 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 46 0 0 37 9 19.5652 MAP1B 0 genome.wustl.edu 37 5 71492953 71492953 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 71492953 71492953 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.3771 p.P1257 0.028 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 141 0 0 63 11 14.8649 TNPO1 0 genome.wustl.edu 37 5 72157667 72157667 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 72157667 72157667 G C SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.388 p.E130Q 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 91 0 0 57 16 21.9178 MTRR 0 genome.wustl.edu 37 5 7897003 7897003 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 7897003 7897003 A G SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.1784 p.D595G 0.001 pfam_OxRdtase_FAD/NAD-bd pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 109 0 0 45 19 29.6875 GPR98 0 genome.wustl.edu 37 5 89938513 89938513 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 89938513 89938513 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2301 p.L767F 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 235 0 0 91 38 29.4574 ARSK 0 genome.wustl.edu 37 5 94918625 94918625 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 5 94918625 94918625 G A SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.422 p.R141H 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 253 0 0 105 33 23.913 HIVEP1 0 genome.wustl.edu 37 6 12120918 12120918 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 12120918 12120918 A G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.890 p.H297R 0.168 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 145 0 0 103 9 8.03571 HIST1H2BD 0 genome.wustl.edu 37 6 26158551 26158551 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 26158551 26158551 G A SNP HIST1H2BD ENST00000289316 human ensembl 74_37 +1 known missense c.154 p.D52N 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC ENSG00000158373 442 1 0.225734 179 18 9.13706 ZNF184 0 genome.wustl.edu 37 6 27420700 27420700 + Nonsense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 27420700 27420700 G T SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known nonsense c.638 p.S213* 0.372 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 305 1 0.326797 133 51 27.7174 GPANK1 0 genome.wustl.edu 37 6 31631696 31631696 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 31631696 31631696 G T SNP GPANK1 ENST00000375893 human ensembl 74_37 -1 known missense c.560 p.A187D 0.987 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 94 0 0 41 10 19.6078 PIM1 0 genome.wustl.edu 37 6 37139029 37139029 + Silent SNP C C G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 37139029 37139029 C G SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.369 p.P123 0.976 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM1 HGNC ENSG00000137193 345 0 0 135 17 11.1842 PKHD1 0 genome.wustl.edu 37 6 51910975 51910975 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 51910975 51910975 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.2419 p.Q807K 0.688 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 223 1 0.446429 103 39 27.4648 COL12A1 0 genome.wustl.edu 37 6 75865563 75865563 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 6 75865563 75865563 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.3258 p.R1086 0.917 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 156 0 0 65 29 30.8511 CPA1 0 genome.wustl.edu 37 7 130022031 130022031 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 130022031 130022031 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.464 p.R155H 0.961 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 144 0 0 65 20 23.5294 DENND2A 0 genome.wustl.edu 37 7 140285465 140285465 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 140285465 140285465 C A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1169 p.G390V 0.990 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 287 0 0 141 15 9.61538 MEOX2 0 genome.wustl.edu 37 7 15652168 15652168 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 15652168 15652168 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.759 p.A253 0.004 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 214 0 0 112 30 21.1268 NOD1 0 genome.wustl.edu 37 7 30492160 30492160 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 30492160 30492160 C T SNP NOD1 ENST00000423334 human ensembl 74_37 -1 known missense c.737 p.R246Q 0.988 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 68 0 0 28 9 24.3243 GLI3 0 genome.wustl.edu 37 7 42005114 42005114 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 42005114 42005114 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3557 p.P1186L 0.086 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 283 1 0.352113 140 25 15.1515 OCM 0 genome.wustl.edu 37 7 5923596 5923596 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 5923596 5923596 G A SNP OCM ENST00000242104 human ensembl 74_37 +1 known silent c.270 p.A90 0.397 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors OCM HGNC ENSG00000122543 59 0 0 41 7 14.5833 ABCB1 0 genome.wustl.edu 37 7 87179298 87179298 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 87179298 87179298 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1423 p.Q475K 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 188 0 0 147 40 21.3904 SAMD9L 0 genome.wustl.edu 37 7 92763591 92763591 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 7 92763591 92763591 C A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1694 p.W565L 0.999 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 70 0 0 73 28 27.7228 KCNK9 0 genome.wustl.edu 37 8 140631116 140631116 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 140631116 140631116 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.510 p.T170 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 75 0 0 46 10 17.8571 CSGALNACT1 0 genome.wustl.edu 37 8 19362779 19362779 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 19362779 19362779 C A SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.567 p.E189D 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 120 0 0 68 19 21.8391 NEFM 0 genome.wustl.edu 37 8 24775106 24775106 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 24775106 24775106 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.1738 p.A580T 0.033 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 20 0 0 30 3 9.09091 KCTD9 0 genome.wustl.edu 37 8 25287389 25287389 + Nonsense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 25287389 25287389 G C SNP KCTD9 ENST00000221200 human ensembl 74_37 -1 known nonsense c.1154 p.S385* 1.000 NULL pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 186 0 0 110 61 35.6725 CSMD1 0 genome.wustl.edu 37 8 2823423 2823423 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 2823423 2823423 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9157 p.D3053N 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 CSMD1 HGNC ENSG00000183117 45 0 0 13 4 23.5294 FAM110B 0 genome.wustl.edu 37 8 59058836 59058836 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 59058836 59058836 G T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.47 p.S16I 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 53 0 0 35 5 12.5 TRPA1 0 genome.wustl.edu 37 8 72975180 72975180 + Splice_Site SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 8 72975180 72975180 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known splice_site c.662-1 e6-1 1.000 - - - no_errors TRPA1 HGNC ENSG00000104321 57 0 0 42 8 16 BAAT 0 genome.wustl.edu 37 9 104124952 104124952 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 104124952 104124952 G T SNP BAAT ENST00000259407 human ensembl 74_37 -1 known missense c.1015 p.Q339K 0.004 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 150 1 0.662252 77 17 18.0851 OR1J2 0 genome.wustl.edu 37 9 125273810 125273810 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 125273810 125273810 C A SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known missense c.730 p.H244N 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 233 0 0 111 34 23.4483 LMX1B 0 genome.wustl.edu 37 9 129377676 129377676 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 129377676 129377676 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.154 p.H52Y 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 37 0 0 13 2 13.3333 BNC2 0 genome.wustl.edu 37 9 16436468 16436468 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 16436468 16436468 C A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1724 p.S575I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 140 0 0 63 22 25.8824 LINGO2 0 genome.wustl.edu 37 9 27950590 27950590 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 27950590 27950590 C A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.80 p.G27V 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 101 0 0 34 22 39.2857 WNK2 0 genome.wustl.edu 37 9 96082763 96082763 + RNA SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 96082763 96082763 G A SNP WNK2 ENST00000471076 human ensembl 74_37 +1 known rna NULL NULL 0.828 - - - no_errors WNK2 HGNC ENSG00000165238 22 0 0 16 3 15.7895 KIAA1210 0 genome.wustl.edu 37 X 118220735 118220735 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a X 118220735 118220735 C T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.4458 p.S1486 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 29 0 0 27 5 15.625 OR8B4 0 genome.wustl.edu 37 11 124294266 124294268 + In_Frame_Del DEL AGA AGA - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 124294266 124294268 AGA - DEL OR8B4 ENST00000356130 human ensembl 74_37 -1 known in_frame_del c.502_500 p.F167in_frame_del 1.000:0.993:0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 53 0 0 32 10 23.8095 TNKS1BP1 0 genome.wustl.edu 37 11 57087864 57087864 + Frame_Shift_Del DEL T T - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 11 57087864 57087864 T - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.417 p.G141fs 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 149 0 0 56 12 17.6471 SMAD4 0 genome.wustl.edu 37 18 48593405 48593406 + Frame_Shift_Ins INS - - GT TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 48593405 48593406 - GT INS SMAD4 ENST00000342988 human ensembl 74_37 +1 known frame_shift_ins c.1156_1157 p.Q388fs 1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 191 0 0 76 13 14.6067 ZNF407 0 genome.wustl.edu 37 18 72343478 72343479 + Frame_Shift_Ins INS - - C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 18 72343478 72343479 - C INS ZNF407 ENST00000299687 human ensembl 74_37 +1 known frame_shift_ins c.503_504 p.K171fs 0.000:0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 173 0 0 96 7 6.79612 KIAA1211L 0 genome.wustl.edu 37 2 99439319 99439321 + In_Frame_Del DEL CCG CCG - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 2 99439319 99439321 CCG - DEL KIAA1211L ENST00000397899 human ensembl 74_37 -1 known in_frame_del c.1417_1415 p.A472in_frame_del 0.562:0.594:0.640 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 38 0 0 17 5 22.7273 ATXN7 0 genome.wustl.edu 37 3 63981543 63981551 + In_Frame_Del DEL CCAAGGAGT CCAAGGAGT - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 CCAAGGAGT CCAAGGAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 3 63981543 63981551 CCAAGGAGT - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known in_frame_del c.2045_2053 p.KES683in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.863:0.819 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 180 0 0 71 10 12.3457 SETX 0 genome.wustl.edu 37 9 135158548 135158548 + RNA DEL A A - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 135158548 135158548 A - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors SETX HGNC ENSG00000107290 12 0 0 18 3 14.2857 DOCK8 0 genome.wustl.edu 37 9 420472 420473 + Frame_Shift_Ins INS - - A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a 9 420472 420473 - A INS DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_ins c.3912_3913 p.N1305fs 1.000:1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 151 0 0 75 21 21.875 MAP7D3 0 genome.wustl.edu 37 X 135313185 135313186 + RNA INS - - T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a X 135313185 135313186 - T INS MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.004:0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 20 0 0 32 2 5.88235