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 SASS6 0 genome.wustl.edu 37 1 100551134 100551134 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 100551134 100551134 T C SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1825 p.I609V 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 132 0 0 57 18 24 CDC14A 0 genome.wustl.edu 37 1 100964501 100964501 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 100964501 100964501 C T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.1438 p.R480W 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 89 0 0 29 11 27.5 CDC14A 0 genome.wustl.edu 37 1 100964650 100964650 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 100964650 100964650 T C SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known silent c.1587 p.P529 0.997 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 108 0 0 37 23 38.3333 AKNAD1 0 genome.wustl.edu 37 1 109358853 109358853 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 109358853 109358853 A G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known silent c.2451 p.I817 0.175 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 192 0 0 93 40 30.0752 CELSR2 0 genome.wustl.edu 37 1 109795502 109795502 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 109795502 109795502 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.2801 p.S934N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 175 1 0.568182 89 9 9.18367 MYBPHL 0 genome.wustl.edu 37 1 109849545 109849545 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 109849545 109849545 C T SNP MYBPHL ENST00000357155 human ensembl 74_37 -1 known silent c.69 p.A23 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPHL HGNC ENSG00000221986 87 0 0 30 18 37.5 ATXN7L2 0 genome.wustl.edu 37 1 110031548 110031548 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 110031548 110031548 A G SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.863 p.N288S 0.537 pfam_SCA7_dom pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 81 0 0 36 13 26.5306 AHCYL1 0 genome.wustl.edu 37 1 110563414 110563414 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 110563414 110563414 T C SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known silent c.1527 p.D509 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 240 0 0 103 36 25.8993 KCNC4 0 genome.wustl.edu 37 1 110765721 110765721 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 110765721 110765721 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.814 p.R272W 0.994 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 243 0 0 77 31 28.7037 CHIA 0 genome.wustl.edu 37 1 111854340 111854340 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 111854340 111854340 G A SNP CHIA ENST00000343320 human ensembl 74_37 +1 known missense c.55 p.G19S 1.000 NULL pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 264 0 0 97 35 26.5152 KCND3 0 genome.wustl.edu 37 1 112524322 112524322 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 112524322 112524322 C T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1027 p.E343K 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 84 0 0 31 11 26.1905 MOV10 0 genome.wustl.edu 37 1 113232213 113232213 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 113232213 113232213 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.518 p.R173Q 1.000 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 229 0 0 83 26 23.8532 AP4B1 0 genome.wustl.edu 37 1 114439156 114439156 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 114439156 114439156 G A SNP AP4B1 ENST00000462591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 72 0 0 34 13 27.6596 NGF 0 genome.wustl.edu 37 1 115829258 115829258 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 115829258 115829258 G T SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.159 p.S53R 0.258 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 79 0 0 41 16 28.0702 CD58 0 genome.wustl.edu 37 1 117078587 117078587 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 117078587 117078587 C T SNP CD58 ENST00000369489 human ensembl 74_37 -1 known missense c.628 p.G210S 0.060 NULL NULL - no_errors CD58 HGNC ENSG00000116815 135 0 0 59 29 32.9545 AGTRAP 0 genome.wustl.edu 37 1 11806017 11806017 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 11806017 11806017 C T SNP AGTRAP ENST00000491346 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AGTRAP HGNC ENSG00000177674 40 0 0 30 18 37.5 VPS13D 0 genome.wustl.edu 37 1 12353760 12353760 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 12353760 12353760 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.6032 p.T2011M 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 45 0 0 16 3 15.7895 CPSF3L 0 genome.wustl.edu 37 1 1248005 1248005 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 1248005 1248005 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.1388 p.S463L 0.995 NULL pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 80 0 0 28 19 40.4255 GLTPD1 0 genome.wustl.edu 37 1 1262942 1262942 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 1262942 1262942 C A SNP GLTPD1 ENST00000343938 human ensembl 74_37 +1 known silent c.444 p.A148 0.290 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD1 HGNC ENSG00000224051 16 0 0 13 3 18.75 HNRNPCL1 0 genome.wustl.edu 37 1 12908011 12908011 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 12908011 12908011 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known silent c.132 p.A44 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 319 0 0 147 16 9.81595 CCNL2 0 genome.wustl.edu 37 1 1326219 1326219 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 1326219 1326219 G A SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.686 p.T229I 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 139 0 0 43 15 25.8621 PRDM2 0 genome.wustl.edu 37 1 14108436 14108436 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 14108436 14108436 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4146 p.G1382 0.176 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 133 0 0 71 27 27.551 ADAMTSL4 0 genome.wustl.edu 37 1 150529726 150529726 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150529726 150529726 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known silent c.2031 p.P677 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 34 0 0 13 8 38.0952 SETDB1 0 genome.wustl.edu 37 1 150923259 150923259 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150923259 150923259 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.1906 p.R636W 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 143 0 0 58 18 23.6842 SETDB1 0 genome.wustl.edu 37 1 150931769 150931769 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150931769 150931769 G T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.2446 p.G816C 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 178 0 0 69 34 33.0097 PI4KB 0 genome.wustl.edu 37 1 151280093 151280093 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 151280093 151280093 C T SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1175 p.R392H 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 81 0 0 23 11 32.3529 NBPF18P 0 genome.wustl.edu 37 1 151994945 151994945 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 151994945 151994945 G A SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NBPF18P HGNC ENSG00000229021 93 0 0 19 5 20.8333 TCHH 0 genome.wustl.edu 37 1 152083177 152083177 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 152083177 152083177 T C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.2516 p.Q839R 0.621 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 127 0 0 80 28 25.9259 HRNR 0 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 47 0 0 21 3 12.5 HRNR 0 genome.wustl.edu 37 1 152190973 152190973 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 152190973 152190973 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.3132 p.S1044 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 406 1 0.2457 167 92 35.5212 SPRR3 0 genome.wustl.edu 37 1 152975733 152975733 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 152975733 152975733 G A SNP SPRR3 ENST00000295367 human ensembl 74_37 +1 known silent c.237 p.E79 0.965 pfam_Cornifin pfam_Cornifin - no_errors SPRR3 HGNC ENSG00000163209 72 0 0 41 16 28.0702 HAX1 0 genome.wustl.edu 37 1 154247469 154247469 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 154247469 154247469 A G SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known missense c.572 p.E191G 1.000 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 45 0 0 10 4 28.5714 ASH1L 0 genome.wustl.edu 37 1 155491087 155491087 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 155491087 155491087 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.224 p.V75A 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 366 0 0 180 75 29.4118 GON4L 0 genome.wustl.edu 37 1 155722995 155722995 + Nonsense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 155722995 155722995 C A SNP GON4L ENST00000271883 human ensembl 74_37 -1 known nonsense c.5842 p.G1948* 0.997 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 72 0 0 28 18 39.1304 NES 0 genome.wustl.edu 37 1 156645010 156645010 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 156645010 156645010 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.906 p.Y302 1.000 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 102 0 0 46 14 23.3333 FCRL4 0 genome.wustl.edu 37 1 157557085 157557085 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 157557085 157557085 C T SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known silent c.828 p.S276 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 319 1 0.3125 150 62 29.2453 OR10R2 0 genome.wustl.edu 37 1 158450149 158450149 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 158450149 158450149 G A SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.482 p.C161Y 0.976 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 198 1 0.502513 131 61 31.7708 OR6K3 0 genome.wustl.edu 37 1 158687866 158687866 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 158687866 158687866 A T SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.88 p.F30I 0.381 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 132 0 0 43 24 35.8209 PYHIN1 0 genome.wustl.edu 37 1 158914700 158914700 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 158914700 158914700 C T SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known silent c.1227 p.S409 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 93 0 0 39 15 27.7778 CADM3 0 genome.wustl.edu 37 1 159163282 159163282 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 159163282 159163282 A G SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.554 p.N185S 0.626 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 114 0 0 46 8 14.8148 DCAF8 0 genome.wustl.edu 37 1 160209863 160209863 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 160209863 160209863 C T SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.809 p.R270H 0.975 NULL pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 67 0 0 35 9 20.4545 PLEKHM2 0 genome.wustl.edu 37 1 16060293 16060293 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 16060293 16060293 T C SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.2924 p.V975A 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 148 0 0 45 12 21.0526 ARHGAP30 0 genome.wustl.edu 37 1 161018410 161018410 + Nonsense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 161018410 161018410 C A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known nonsense c.2401 p.G801* 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 323 0 0 128 51 28.4916 PPOX 0 genome.wustl.edu 37 1 161137954 161137954 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 161137954 161137954 C T SNP PPOX ENST00000490768 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PPOX HGNC ENSG00000143224 57 0 0 28 11 28.2051 TOMM40L 0 genome.wustl.edu 37 1 161196288 161196288 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 161196288 161196288 C T SNP TOMM40L ENST00000367987 human ensembl 74_37 +1 known silent c.9 p.N3 0.997 NULL pfam_Porin_Euk/Tom40 - no_errors TOMM40L HGNC ENSG00000158882 50 0 0 23 9 28.125 HSPA6 0 genome.wustl.edu 37 1 161495033 161495033 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 161495033 161495033 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.585 p.R195 0.997 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 69 0 0 38 5 11.6279 HSPB7 0 genome.wustl.edu 37 1 16344393 16344393 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 16344393 16344393 G A SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known silent c.66 p.S22 0.343 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 75 0 0 19 8 29.6296 CLCNKB 0 genome.wustl.edu 37 1 16378753 16378753 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 16378753 16378753 A G SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.1469 p.E490G 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 136 0 0 47 26 35.6164 EPHA2 0 genome.wustl.edu 37 1 16464408 16464408 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 16464408 16464408 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1252 p.V418I 0.998 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 123 0 0 34 15 30.6122 SZRD1 0 genome.wustl.edu 37 1 16721660 16721660 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 16721660 16721660 G A SNP SZRD1 ENST00000375590 human ensembl 74_37 +1 known missense c.374 p.R125H 0.797 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 38 0 0 20 2 9.09091 DCAF6 0 genome.wustl.edu 37 1 167962538 167962538 + Silent SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 167962538 167962538 A C SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known silent c.763 p.R255 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 64 0 0 37 13 26 SELP 0 genome.wustl.edu 37 1 169586506 169586506 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 169586506 169586506 T C SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.241 p.K81E 0.610 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 263 0 0 118 51 30.1775 ESPNP 0 genome.wustl.edu 37 1 17023338 17023338 + RNA SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 17023338 17023338 T G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 84 0 0 35 4 10.2564 FMO4 0 genome.wustl.edu 37 1 171300894 171300894 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 171300894 171300894 T G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known silent c.600 p.A200 0.519 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 256 0 0 86 40 31.746 PRRC2C 0 genome.wustl.edu 37 1 171504603 171504603 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 171504603 171504603 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.1910 p.R637H 0.945 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 109 0 0 46 19 29.2308 PRRC2C 0 genome.wustl.edu 37 1 171560757 171560757 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 171560757 171560757 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.8468 p.T2823M 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 114 0 0 44 26 37.1429 ATP13A2 0 genome.wustl.edu 37 1 17313685 17313685 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 17313685 17313685 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2939 p.R980H 0.994 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 62 0 0 39 5 11.3636 GPR52 0 genome.wustl.edu 37 1 174418046 174418046 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 174418046 174418046 T G SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.797 p.V266G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 159 0 0 99 39 28.2609 TDRD5 0 genome.wustl.edu 37 1 179600006 179600006 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 179600006 179600006 A G SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known silent c.1077 p.G359 0.998 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 130 0 0 49 21 30 QSOX1 0 genome.wustl.edu 37 1 180155204 180155204 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 180155204 180155204 G T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.904 p.A302S 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 99 0 0 45 11 19.6429 HMCN1 0 genome.wustl.edu 37 1 186107063 186107063 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 186107063 186107063 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13883 p.N4628S 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 120 0 0 42 27 39.1304 ZBTB41 0 genome.wustl.edu 37 1 197147552 197147552 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 197147552 197147552 C T SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known silent c.1767 p.S589 0.915 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZBTB41 HGNC ENSG00000177888 66 0 0 28 13 31.7073 DENND1B 0 genome.wustl.edu 37 1 197704823 197704823 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 197704823 197704823 C T SNP DENND1B ENST00000477581 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DENND1B HGNC ENSG00000213047 55 0 0 20 8 28.5714 PTPRC 0 genome.wustl.edu 37 1 198608465 198608465 + Splice_Site SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 198608465 198608465 G A SNP PTPRC ENST00000391970 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.028 - - - no_errors PTPRC HGNC ENSG00000081237 126 0 0 42 26 38.2353 TMCO4 0 genome.wustl.edu 37 1 20020975 20020975 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 20020975 20020975 G A SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known silent c.1452 p.P484 0.967 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 152 0 0 55 22 28.5714 IPO9 0 genome.wustl.edu 37 1 201816700 201816700 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 201816700 201816700 A C SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.246 p.K82N 0.999 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 104 0 0 36 18 33.3333 ARL8A 0 genome.wustl.edu 37 1 202104870 202104870 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 202104870 202104870 T C SNP ARL8A ENST00000272217 human ensembl 74_37 -1 known missense c.337 p.N113D 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL8A HGNC ENSG00000143862 55 0 0 22 15 40.5405 PTPN7 0 genome.wustl.edu 37 1 202126901 202126901 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 202126901 202126901 G A SNP PTPN7 ENST00000496197 human ensembl 74_37 -1 known missense c.304 p.R102C 0.141 NULL NULL - no_errors PTPN7 HGNC ENSG00000143851 140 1 0.70922 45 37 45.122 LGR6 0 genome.wustl.edu 37 1 202287836 202287836 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 202287836 202287836 C A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2405 p.P802H 0.978 pfam_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 180 0 0 49 27 35.5263 KDM5B 0 genome.wustl.edu 37 1 202715099 202715099 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 202715099 202715099 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2318 p.T773M 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 208 0 0 91 37 28.9062 MYOG 0 genome.wustl.edu 37 1 203054840 203054840 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 203054840 203054840 G A SNP MYOG ENST00000241651 human ensembl 74_37 -1 known missense c.250 p.R84W 0.998 pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,pfscan_bHLH_dom pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 135 0 0 53 21 28.3784 OPTC 0 genome.wustl.edu 37 1 203467905 203467905 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 203467905 203467905 C T SNP OPTC ENST00000367222 human ensembl 74_37 +1 known missense c.467 p.A156V 0.656 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 104 0 0 38 21 35.5932 PIK3C2B 0 genome.wustl.edu 37 1 204438319 204438319 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 204438319 204438319 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known silent c.612 p.E204 0.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 542 0 0 199 95 32.3129 DSTYK 0 genome.wustl.edu 37 1 205126463 205126463 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 205126463 205126463 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2290 p.G764R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 114 0 0 34 17 33.3333 SLC26A9 0 genome.wustl.edu 37 1 205892468 205892468 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 205892468 205892468 C T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.1654 p.A552T 0.994 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 165 0 0 70 27 27.8351 CD55 0 genome.wustl.edu 37 1 207500173 207500173 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 207500173 207500173 G A SNP CD55 ENST00000314754 human ensembl 74_37 +1 known missense c.655 p.E219K 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC ENSG00000196352 168 0 0 51 24 32 CR1 0 genome.wustl.edu 37 1 207679429 207679429 + Splice_Site SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 207679429 207679429 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known splice_site c.301+1 e2+1 0.997 - - - no_errors CR1 HGNC ENSG00000203710 175 0 0 64 25 28.0899 TRAF3IP3 0 genome.wustl.edu 37 1 209955413 209955413 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 209955413 209955413 C T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known nonsense c.1576 p.R526* 0.007 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 102 0 0 34 10 22.7273 IRF6 0 genome.wustl.edu 37 1 209961990 209961990 + Splice_Site SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 209961990 209961990 C A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known splice_site c.1180-1 e7-1 1.000 - - - no_errors IRF6 HGNC ENSG00000117595 52 0 0 28 13 31.7073 ATF3 0 genome.wustl.edu 37 1 212788567 212788567 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 212788567 212788567 C T SNP ATF3 ENST00000341491 human ensembl 74_37 +1 known silent c.204 p.S68 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 90 0 0 34 21 38.1818 USH2A 0 genome.wustl.edu 37 1 216462723 216462723 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 216462723 216462723 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1870 p.F624L 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 156 0 0 51 27 34.6154 HSPG2 0 genome.wustl.edu 37 1 22177999 22177999 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22177999 22177999 C A SNP HSPG2 ENST00000493940 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSPG2 HGNC ENSG00000142798 63 0 0 27 22 44.898 HSPG2 0 genome.wustl.edu 37 1 22178631 22178631 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22178631 22178631 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.6820 p.A2274T 0.983 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 74 0 0 30 13 30.2326 DUSP10 0 genome.wustl.edu 37 1 221879607 221879607 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 221879607 221879607 T C SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.1013 p.Q338R 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 277 0 0 94 38 28.7879 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 265 1 0.37594 90 41 31.2977 CELA3A 0 genome.wustl.edu 37 1 22336257 22336257 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22336257 22336257 T C SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.702 p.G234 0.259 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 96 0 0 32 12 27.2727 ENAH 0 genome.wustl.edu 37 1 225707022 225707022 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 225707022 225707022 T C SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.680 p.Q227R 0.968 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 292 0 0 121 43 26.2195 TMEM63A 0 genome.wustl.edu 37 1 226053597 226053597 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 226053597 226053597 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.746 p.R249Q 1.000 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 45 0 0 15 7 31.8182 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 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 52 0 0 6 8 57.1429 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 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 175 0 0 59 7 10.6061 OBSCN 0 genome.wustl.edu 37 1 228506694 228506694 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228506694 228506694 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.14241 p.R4747 0.935 NULL 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 8 0 0 2 3 60 OBSCN 0 genome.wustl.edu 37 1 228538616 228538616 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228538616 228538616 A G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.18391 p.I6131V 0.993 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 80 0 0 21 11 34.375 OBSCN 0 genome.wustl.edu 37 1 228556588 228556588 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228556588 228556588 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.19933 p.D6645N 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_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 143 0 0 61 30 32.967 C1QA 0 genome.wustl.edu 37 1 22964233 22964233 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22964233 22964233 C T SNP C1QA ENST00000374642 human ensembl 74_37 +1 known missense c.124 p.R42W 0.274 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 18 0 0 3 3 50 C1QB 0 genome.wustl.edu 37 1 22987549 22987549 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 22987549 22987549 C T SNP C1QB ENST00000314933 human ensembl 74_37 +1 known silent c.432 p.H144 0.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 192 0 0 64 29 31.1828 TTC13 0 genome.wustl.edu 37 1 231061267 231061267 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 231061267 231061267 G A SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known silent c.1584 p.H528 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 100 0 0 52 27 34.1772 C1orf131 0 genome.wustl.edu 37 1 231362504 231362504 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 231362504 231362504 T G SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known missense c.674 p.K225T 0.997 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 193 0 0 45 18 28.5714 EPHB2 0 genome.wustl.edu 37 1 23234598 23234598 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 23234598 23234598 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2289 p.S763 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 136 0 0 58 25 30.1205 SIPA1L2 0 genome.wustl.edu 37 1 232539885 232539885 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 232539885 232539885 T C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4802 p.H1601R 0.996 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 98 0 0 29 5 14.7059 KDM1A 0 genome.wustl.edu 37 1 23382484 23382484 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 23382484 23382484 C A SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known silent c.943 p.R315 1.000 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 192 0 0 60 22 26.8293 TBCE 0 genome.wustl.edu 37 1 235594095 235594095 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 235594095 235594095 T G SNP TBCE ENST00000543662 human ensembl 74_37 +1 known missense c.636 p.N212K 0.057 NULL pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCE HGNC ENSG00000116957 53 0 0 20 10 33.3333 HEATR1 0 genome.wustl.edu 37 1 236744679 236744679 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 236744679 236744679 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.2598 p.F866 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 157 1 0.632911 60 26 30.2326 E2F2 0 genome.wustl.edu 37 1 23845545 23845545 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 23845545 23845545 G T SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.815 p.P272H 1.000 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 69 0 0 31 14 31.1111 KMO 0 genome.wustl.edu 37 1 241712984 241712984 + Silent SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 241712984 241712984 A T SNP KMO ENST00000366559 human ensembl 74_37 +1 known silent c.132 p.R44 0.990 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 141 0 0 55 14 20.2899 OR2M5 0 genome.wustl.edu 37 1 248309019 248309019 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 248309019 248309019 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.570 p.N190 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 431 0 0 211 88 29.4314 OR2T33 0 genome.wustl.edu 37 1 248436928 248436928 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 248436928 248436928 T A SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.189 p.Q63H 0.566 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 224 0 0 91 35 27.7778 OR2T11 0 genome.wustl.edu 37 1 248790195 248790195 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 248790195 248790195 G T SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known missense c.235 p.L79M 0.063 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 88 0 0 39 22 36.0656 ZNF672 0 genome.wustl.edu 37 1 249142338 249142338 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 249142338 249142338 G A SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known missense c.865 p.G289S 0.982 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 18 0 0 8 3 27.2727 ZNF692 0 genome.wustl.edu 37 1 249151439 249151439 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 249151439 249151439 G A SNP ZNF692 ENST00000451251 human ensembl 74_37 -1 known missense c.484 p.L162F 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 107 0 0 42 22 34.375 MAN1C1 0 genome.wustl.edu 37 1 26073179 26073179 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26073179 26073179 G A SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.658 p.V220I 0.019 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 57 0 0 16 6 27.2727 AUNIP 0 genome.wustl.edu 37 1 26162205 26162205 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26162205 26162205 G T SNP AUNIP ENST00000538789 human ensembl 74_37 -1 known missense c.353 p.P118H 0.921 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 128 0 0 56 23 29.1139 SLC30A2 0 genome.wustl.edu 37 1 26370880 26370880 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26370880 26370880 A G SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known silent c.327 p.T109 0.522 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 35 0 0 17 5 22.7273 TRIM63 0 genome.wustl.edu 37 1 26385070 26385070 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26385070 26385070 G A SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known silent c.642 p.D214 0.005 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 208 0 0 84 36 30 ZNF683 0 genome.wustl.edu 37 1 26689609 26689609 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26689609 26689609 G T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.1051 p.Q351K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 35 0 0 10 4 28.5714 PIGV 0 genome.wustl.edu 37 1 27124087 27124087 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27124087 27124087 A G SNP PIGV ENST00000078527 human ensembl 74_37 +1 known missense c.1234 p.I412V 0.932 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 189 0 0 72 25 25.7732 C1orf172 0 genome.wustl.edu 37 1 27278207 27278207 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27278207 27278207 G A SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known missense c.665 p.S222L 0.997 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 60 0 0 33 21 38.8889 WDTC1 0 genome.wustl.edu 37 1 27630202 27630202 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27630202 27630202 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.1559 p.R520Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 209 0 0 58 30 34.0909 SMPDL3B 0 genome.wustl.edu 37 1 28271805 28271805 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 28271805 28271805 T C SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known missense c.124 p.F42L 0.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 82 0 0 28 17 37.7778 PTPRU 0 genome.wustl.edu 37 1 29609223 29609223 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 29609223 29609223 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1904 p.R635Q 0.981 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 54 0 0 30 17 36.1702 PTPRU 0 genome.wustl.edu 37 1 29609286 29609286 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 29609286 29609286 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1967 p.A656V 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 102 0 0 48 21 30.4348 BAI2 0 genome.wustl.edu 37 1 32205105 32205105 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 32205105 32205105 T G SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.2299 p.S767R 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 48 0 0 13 9 40.9091 BAI2 0 genome.wustl.edu 37 1 32207266 32207266 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 32207266 32207266 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1646 p.A549V 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 77 0 0 35 18 33.9623 IQCC 0 genome.wustl.edu 37 1 32672208 32672208 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 32672208 32672208 G T SNP IQCC ENST00000537469 human ensembl 74_37 +1 known missense c.525 p.E175D 0.016 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 143 0 0 55 25 31.25 ZNF362 0 genome.wustl.edu 37 1 33745827 33745827 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 33745827 33745827 C G SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.452 p.T151S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 224 0 0 75 15 16.6667 A3GALT2 0 genome.wustl.edu 37 1 33773018 33773018 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 33773018 33773018 C T SNP A3GALT2 ENST00000442999 human ensembl 74_37 -1 novel silent c.372 p.T124 0.155 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors A3GALT2 HGNC ENSG00000184389 134 0 0 32 11 25.5814 CSMD2 0 genome.wustl.edu 37 1 33985139 33985139 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 33985139 33985139 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.10875 p.S3625 1.000 NULL 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 CSMD2 HGNC ENSG00000121904 197 0 0 87 38 30.4 CSMD2 0 genome.wustl.edu 37 1 34117960 34117960 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 34117960 34117960 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4549 p.V1517I 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD2 HGNC ENSG00000121904 188 0 0 41 21 33.871 CSMD2 0 genome.wustl.edu 37 1 34204792 34204792 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 34204792 34204792 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.2317 p.V773I 0.908 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 CSMD2 HGNC ENSG00000121904 62 0 0 25 13 34.2105 GJB4 0 genome.wustl.edu 37 1 35227553 35227553 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 35227553 35227553 C T SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known missense c.698 p.T233M 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 79 0 0 25 12 32.4324 CSF3R 0 genome.wustl.edu 37 1 36938264 36938264 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 36938264 36938264 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.697 p.R233W 0.172 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 23 0 0 10 11 52.381 EPHA10 0 genome.wustl.edu 37 1 38184382 38184382 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 38184382 38184382 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2863 p.A955T 0.094 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 63 0 0 17 7 29.1667 KIAA0754 0 genome.wustl.edu 37 1 39877867 39877867 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 39877867 39877867 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.1522 p.E508K 0.012 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 300 0 0 105 43 29.0541 PPIE 0 genome.wustl.edu 37 1 40219004 40219004 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 40219004 40219004 G A SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.883 p.A295T 0.923 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 114 0 0 29 12 29.2683 ZFP69B 0 genome.wustl.edu 37 1 40928171 40928171 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 40928171 40928171 T C SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.515 p.M172T 0.200 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 273 0 0 74 34 31.4815 MPL 0 genome.wustl.edu 37 1 43805156 43805156 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 43805156 43805156 A G SNP MPL ENST00000372470 human ensembl 74_37 +1 known silent c.606 p.S202 0.158 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 143 0 0 62 25 28.7356 SZT2 0 genome.wustl.edu 37 1 43905354 43905354 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 43905354 43905354 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.6785 p.P2262L 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 149 0 0 62 32 34.0426 DPH2 0 genome.wustl.edu 37 1 44437851 44437851 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 44437851 44437851 T C SNP DPH2 ENST00000255108 human ensembl 74_37 +1 known missense c.1190 p.L397P 1.000 tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 148 0 0 51 18 26.087 SLC6A9 0 genome.wustl.edu 37 1 44489952 44489952 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 44489952 44489952 C T SNP SLC6A9 ENST00000492434 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A9 HGNC ENSG00000196517 368 1 0.271003 133 61 31.4433 TESK2 0 genome.wustl.edu 37 1 45810847 45810847 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 45810847 45810847 G T SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.1381 p.P461T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 186 0 0 66 41 38.3178 TESK2 0 genome.wustl.edu 37 1 45851582 45851582 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 45851582 45851582 A G SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known splice_site c.393+2 e3+2 1.000 - - - no_errors TESK2 HGNC ENSG00000070759 75 0 0 19 19 50 CCDC17 0 genome.wustl.edu 37 1 46086396 46086396 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 46086396 46086396 G A SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.1613 p.P538L 0.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 11 0 0 3 2 40 POMGNT1 0 genome.wustl.edu 37 1 46659402 46659402 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 46659402 46659402 T C SNP POMGNT1 ENST00000477114 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POMGNT1 HGNC ENSG00000085998 18 0 0 12 5 29.4118 TTC39A 0 genome.wustl.edu 37 1 51760082 51760082 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 51760082 51760082 G A SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1355 p.S452L 0.024 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 69 0 0 27 4 12.9032 NRD1 0 genome.wustl.edu 37 1 52279744 52279744 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 52279744 52279744 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.1841 p.R614Q 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 69 0 0 25 5 16.6667 ORC1 0 genome.wustl.edu 37 1 52839017 52839017 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 52839017 52839017 T G SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.2422 p.M808L 0.967 pfam_Cdc6_C_dom pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 90 0 0 49 13 20.9677 DMRTB1 0 genome.wustl.edu 37 1 53930372 53930372 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 53930372 53930372 G A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known silent c.813 p.L271 0.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 92 0 0 46 17 26.9841 GLIS1 0 genome.wustl.edu 37 1 53986414 53986414 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 53986414 53986414 G A SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1094 p.A365V 0.960 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 15 0 0 9 8 47.0588 FGGY 0 genome.wustl.edu 37 1 60125996 60125996 + RNA SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 60125996 60125996 A T SNP FGGY ENST00000485720 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors FGGY HGNC ENSG00000172456 54 0 0 25 13 34.2105 INADL 0 genome.wustl.edu 37 1 62330097 62330097 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 62330097 62330097 A T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.2627 p.Y876F 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 105 0 0 37 22 37.2881 INADL 0 genome.wustl.edu 37 1 62330117 62330117 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 62330117 62330117 T G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.2647 p.S883A 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 124 0 0 49 29 37.1795 EFCAB7 0 genome.wustl.edu 37 1 64022887 64022887 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 64022887 64022887 A C SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.1317 p.K439N 0.995 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 66 0 0 28 11 28.2051 ESPN 0 genome.wustl.edu 37 1 6504723 6504723 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 6504723 6504723 G T SNP ESPN ENST00000377828 human ensembl 74_37 +1 known missense c.1173 p.K391N 0.949 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ENSG00000187017 137 0 0 51 21 29.1667 LRRIQ3 0 genome.wustl.edu 37 1 74492637 74492637 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 74492637 74492637 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1735 p.K579E 0.672 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 43 0 0 37 9 19.5652 C1orf173 0 genome.wustl.edu 37 1 75038908 75038908 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 75038908 75038908 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2486 p.R829K 0.001 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 162 0 0 86 13 13.1313 SLC44A5 0 genome.wustl.edu 37 1 75688134 75688134 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 75688134 75688134 A G SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.997 p.C333R 0.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 63 0 0 20 12 37.5 CAMTA1 0 genome.wustl.edu 37 1 7724488 7724488 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 7724488 7724488 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.1881 p.V627 0.389 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 400 0 0 113 45 28.481 CAMTA1 0 genome.wustl.edu 37 1 7811260 7811260 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 7811260 7811260 A G SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4691 p.Y1564C 1.000 superfamily_P-loop_NTPase pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 535 1 0.186567 182 65 26.3158 HS2ST1 0 genome.wustl.edu 37 1 87538643 87538643 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 87538643 87538643 C T SNP HS2ST1 ENST00000370550 human ensembl 74_37 +1 known nonsense c.151 p.R51* 0.990 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS2ST1 HGNC ENSG00000153936 57 0 0 26 12 31.5789 GPR157 0 genome.wustl.edu 37 1 9165734 9165734 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 9165734 9165734 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known silent c.603 p.T201 0.967 pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 40 0 0 5 5 50 BRDT 0 genome.wustl.edu 37 1 92442712 92442712 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 92442712 92442712 C A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.731 p.P244H 0.042 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 58 0 0 34 11 24.4444 MTF2 0 genome.wustl.edu 37 1 93602324 93602324 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 93602324 93602324 C T SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.1522 p.L508F 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 160 0 0 70 36 33.9623 BCAR3 0 genome.wustl.edu 37 1 94054660 94054660 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 94054660 94054660 G A SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.803 p.T268I 0.005 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 32 0 0 18 9 33.3333 PIK3CD 0 genome.wustl.edu 37 1 9775947 9775947 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 9775947 9775947 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known silent c.411 p.N137 0.691 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 45 0 0 15 4 21.0526 LPPR4 0 genome.wustl.edu 37 1 99767288 99767288 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 99767288 99767288 C A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.801 p.F267L 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 81 0 0 46 21 31.3433 LOXL4 0 genome.wustl.edu 37 10 100013355 100013355 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 100013355 100013355 C T SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known missense c.1790 p.R597H 0.991 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 94 0 0 39 22 36.0656 SEC31B 0 genome.wustl.edu 37 10 102256140 102256140 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 102256140 102256140 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2185 p.R729W 0.747 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 110 0 0 50 15 23.0769 PITX3 0 genome.wustl.edu 37 10 103990294 103990294 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 103990294 103990294 A G SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known missense c.886 p.Y296H 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 23 0 0 7 4 36.3636 PSD 0 genome.wustl.edu 37 10 104174761 104174761 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 104174761 104174761 G A SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.983 p.A328V 0.003 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 48 0 0 23 13 36.1111 CALHM2 0 genome.wustl.edu 37 10 105207210 105207210 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 105207210 105207210 C A SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known missense c.671 p.R224L 0.997 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 57 0 0 23 11 32.3529 SORCS1 0 genome.wustl.edu 37 10 108489870 108489870 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 108489870 108489870 G T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.962 p.S321Y 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 70 0 0 59 4 6.34921 ADRA2A 0 genome.wustl.edu 37 10 112838476 112838476 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 112838476 112838476 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.722 p.R241H 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_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 17 0 0 2 3 60 TCF7L2 0 genome.wustl.edu 37 10 114905796 114905796 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 114905796 114905796 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.815 p.T272M 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 268 0 0 92 28 23.3333 PDZD8 0 genome.wustl.edu 37 10 119044515 119044515 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 119044515 119044515 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known nonsense c.1729 p.Q577* 0.989 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 188 0 0 101 39 27.8571 PRLHR 0 genome.wustl.edu 37 10 120354633 120354633 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 120354633 120354633 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.124 p.A42T 0.000 prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 109 0 0 42 12 22.2222 WDR11 0 genome.wustl.edu 37 10 122660586 122660586 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 122660586 122660586 A G SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.2663 p.Q888R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 59 0 0 36 11 23.4043 MMP21 0 genome.wustl.edu 37 10 127464267 127464267 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 127464267 127464267 G T SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.124 p.R42S 0.046 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 92 0 0 31 18 36.7347 PTPRE 0 genome.wustl.edu 37 10 129870413 129870413 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 129870413 129870413 C T SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known nonsense c.1399 p.R467* 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 52 0 0 20 9 31.0345 JAKMIP3 0 genome.wustl.edu 37 10 133963536 133963536 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 133963536 133963536 C T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known silent c.1998 p.N666 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 30 0 0 7 6 46.1538 JAKMIP3 0 genome.wustl.edu 37 10 133976761 133976761 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 133976761 133976761 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.2263 p.A755T 0.821 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 9 0 0 6 3 33.3333 TTC40 0 genome.wustl.edu 37 10 134752232 134752232 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 134752232 134752232 A G SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.397 p.S133P 0.385 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 178 0 0 64 18 21.9512 ZNF511 0 genome.wustl.edu 37 10 135125330 135125330 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 135125330 135125330 G A SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known missense c.470 p.R157Q 0.061 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 196 1 0.507614 55 23 29.4872 CYP2E1 0 genome.wustl.edu 37 10 135350651 135350651 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 135350651 135350651 A G SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.1052 p.D351G 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 121 0 0 43 23 34.8485 NSUN6 0 genome.wustl.edu 37 10 18905144 18905144 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 18905144 18905144 G T SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known silent c.390 p.V130 1.000 pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 84 0 0 38 9 19.1489 ARMC3 0 genome.wustl.edu 37 10 23257331 23257331 + Nonsense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 23257331 23257331 A T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known nonsense c.829 p.K277* 0.994 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 83 0 0 25 10 28.5714 GAD2 0 genome.wustl.edu 37 10 26505771 26505771 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 26505771 26505771 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.33 p.F11 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 118 0 0 35 11 23.913 YME1L1 0 genome.wustl.edu 37 10 27434472 27434472 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 27434472 27434472 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known silent c.387 p.G129 0.999 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 151 0 0 49 21 30 SVIL 0 genome.wustl.edu 37 10 29770534 29770534 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 29770534 29770534 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.5079 p.P1693 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 580 0 0 174 91 34.3396 GJD4 0 genome.wustl.edu 37 10 35897009 35897009 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 35897009 35897009 C T SNP GJD4 ENST00000321660 human ensembl 74_37 +1 known missense c.568 p.R190W 0.967 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 36 0 0 14 6 30 HSD17B7P2 0 genome.wustl.edu 37 10 38647309 38647309 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 38647309 38647309 C T SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 43 0 0 19 8 29.6296 ALOX5 0 genome.wustl.edu 37 10 45941064 45941064 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 45941064 45941064 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.1954 p.R652C 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 170 0 0 65 30 31.5789 GPRIN2 0 genome.wustl.edu 37 10 46999285 46999285 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 46999285 46999285 T G SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known silent c.405 p.G135 0.000 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 43 0 0 36 7 16.2791 GPRIN2 0 genome.wustl.edu 37 10 47000142 47000142 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 47000142 47000142 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.1262 p.A421V 0.037 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 52 0 0 37 3 7.5 BMS1P5 0 genome.wustl.edu 37 10 48922709 48922709 + RNA SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 48922709 48922709 A C SNP BMS1P5 ENST00000436180 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors BMS1P5 HGNC ENSG00000204164 139 0 0 44 10 18.5185 LRRC18 0 genome.wustl.edu 37 10 50122058 50122058 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 50122058 50122058 C T SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.143 p.R48H 0.414 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 100 0 0 38 25 39.6825 SLC18A3 0 genome.wustl.edu 37 10 50820285 50820285 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 50820285 50820285 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1499 p.R500H 0.996 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 134 0 0 63 21 25 CHAT 0 genome.wustl.edu 37 10 50835782 50835782 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 50835782 50835782 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1062 p.T354 0.736 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 113 0 0 46 22 32.3529 CSTF2T 0 genome.wustl.edu 37 10 53458192 53458192 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 53458192 53458192 C T SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.1118 p.R373H 0.978 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 153 0 0 68 36 34.6154 TUBAL3 0 genome.wustl.edu 37 10 5437355 5437355 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 5437355 5437355 C T SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.331 p.A111T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 266 0 0 70 35 33.3333 PFKFB3 0 genome.wustl.edu 37 10 6262768 6262768 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 6262768 6262768 C T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known silent c.813 p.N271 0.940 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 171 1 0.581395 61 15 19.7368 PFKFB3 0 genome.wustl.edu 37 10 6266162 6266162 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 6266162 6266162 C T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.1369 p.R457W 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 85 0 0 38 10 20.8333 TMEM26 0 genome.wustl.edu 37 10 63191022 63191022 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 63191022 63191022 C T SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known silent c.339 p.L113 0.000 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 151 0 0 49 16 24.6154 JMJD1C 0 genome.wustl.edu 37 10 64966870 64966870 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 64966870 64966870 C T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.4559 p.S1520N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 172 1 0.578035 88 36 29.0323 CTNNA3 0 genome.wustl.edu 37 10 68138968 68138968 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 68138968 68138968 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.1674 p.Y558 0.923 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 170 0 0 60 18 23.0769 DDX21 0 genome.wustl.edu 37 10 70730038 70730038 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 70730038 70730038 C T SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.1318 p.R440C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 78 0 0 32 20 38.4615 SRGN 0 genome.wustl.edu 37 10 70864040 70864040 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 70864040 70864040 A G SNP SRGN ENST00000462445 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors SRGN HGNC ENSG00000122862 12 0 0 8 6 42.8571 TSPAN15 0 genome.wustl.edu 37 10 71243576 71243576 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 71243576 71243576 G A SNP TSPAN15 ENST00000373290 human ensembl 74_37 +1 known missense c.226 p.V76I 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN15 HGNC ENSG00000099282 122 0 0 41 14 25.4545 C10orf35 0 genome.wustl.edu 37 10 71392706 71392706 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 71392706 71392706 T C SNP C10orf35 ENST00000373279 human ensembl 74_37 +1 known missense c.257 p.V86A 0.997 NULL NULL - no_errors C10orf35 HGNC ENSG00000171224 122 0 0 57 22 27.8481 UNC5B 0 genome.wustl.edu 37 10 73053236 73053236 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 73053236 73053236 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.1847 p.R616H 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 215 1 0.462963 51 19 27.1429 SLC29A3 0 genome.wustl.edu 37 10 73115851 73115851 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 73115851 73115851 C T SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known silent c.624 p.G208 0.050 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 188 0 0 47 12 20.339 CDH23 0 genome.wustl.edu 37 10 73558151 73558151 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 73558151 73558151 G A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.150 p.T50 0.074 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 115 0 0 47 15 24.1935 USP54 0 genome.wustl.edu 37 10 75277357 75277357 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 75277357 75277357 G T SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.2827 p.P943T 0.512 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 84 0 0 36 16 30.7692 USP54 0 genome.wustl.edu 37 10 75290072 75290072 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 75290072 75290072 G A SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1657 p.R553C 0.009 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 111 0 0 53 16 23.1884 ZSWIM8 0 genome.wustl.edu 37 10 75557339 75557339 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 75557339 75557339 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.3638 p.R1213Q 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 107 0 0 42 14 25 KAT6B 0 genome.wustl.edu 37 10 76741753 76741753 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 76741753 76741753 C T SNP KAT6B ENST00000490365 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors KAT6B HGNC ENSG00000156650 25 0 0 11 14 56 KAT6B 0 genome.wustl.edu 37 10 76788343 76788343 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 76788343 76788343 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.3761 p.R1254H 0.876 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 171 0 0 55 24 30.3797 KAT6B 0 genome.wustl.edu 37 10 76789861 76789861 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 76789861 76789861 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.5279 p.P1760L 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 60 0 0 34 15 30.6122 POLR3A 0 genome.wustl.edu 37 10 79741973 79741973 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 79741973 79741973 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.3698 p.R1233Q 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 84 0 0 44 31 41.3333 CCSER2 0 genome.wustl.edu 37 10 86273259 86273259 + Nonsense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 86273259 86273259 G T SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known nonsense c.2380 p.G794* 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 123 0 0 41 13 24.0741 GRID1 0 genome.wustl.edu 37 10 87898668 87898668 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 87898668 87898668 T A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.634 p.M212L 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 301 0 0 100 41 29.078 NUTM2A 0 genome.wustl.edu 37 10 88994221 88994221 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 88994221 88994221 A G SNP NUTM2A ENST00000381707 human ensembl 74_37 +1 known missense c.2393 p.H798R 0.000 NULL NULL - no_errors NUTM2A HGNC ENSG00000184923 65 0 0 32 14 30.4348 IFIT3 0 genome.wustl.edu 37 10 91098638 91098638 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 91098638 91098638 C T SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known nonsense c.226 p.Q76* 0.192 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 128 0 0 62 31 33.3333 TUBB8 0 genome.wustl.edu 37 10 93798 93798 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 93798 93798 G A SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known silent c.534 p.T178 0.990 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 205 0 0 61 25 29.0698 EXOC6 0 genome.wustl.edu 37 10 94818016 94818016 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 94818016 94818016 T C SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known silent c.2367 p.A789 0.994 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 73 0 0 34 12 26.087 CRTAC1 0 genome.wustl.edu 37 10 99696002 99696002 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 99696002 99696002 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.346 p.G116R 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 94 0 0 33 10 23.2558 BIRC3 0 genome.wustl.edu 37 11 102195543 102195543 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 102195543 102195543 C T SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known silent c.303 p.S101 0.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 284 1 0.350877 128 64 33.3333 MMP12 0 genome.wustl.edu 37 11 102736573 102736573 + RNA SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 102736573 102736573 A T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MMP12 HGNC ENSG00000110347 59 0 0 17 10 37.037 MUC6 0 genome.wustl.edu 37 11 1031856 1031856 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1031856 1031856 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.313 p.V105I 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 34 0 0 17 10 37.037 DDI1 0 genome.wustl.edu 37 11 103908557 103908557 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 103908557 103908557 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.1007 p.R336Q 1.000 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 181 0 0 62 23 27.0588 CASP4 0 genome.wustl.edu 37 11 104820375 104820375 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 104820375 104820375 G T SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.676 p.P226T 0.037 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 166 0 0 89 29 24.5763 MUC2 0 genome.wustl.edu 37 11 1078296 1078296 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1078296 1078296 A G SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.583 p.N195D 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 142 0 0 40 15 27.2727 CTR9 0 genome.wustl.edu 37 11 10789974 10789974 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 10789974 10789974 A T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.2045 p.D682V 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 94 0 0 44 13 22.807 ALG9 0 genome.wustl.edu 37 11 111657215 111657215 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 111657215 111657215 A T SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known missense c.1250 p.V417D 0.994 NULL pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 124 0 0 46 20 30.303 NCAM1 0 genome.wustl.edu 37 11 113075136 113075136 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 113075136 113075136 G A SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.226 p.A76T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 94 0 0 29 13 30.9524 HTR3A 0 genome.wustl.edu 37 11 113860304 113860304 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 113860304 113860304 T C SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1370 p.L457P 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 151 0 0 57 32 35.9551 ZNF259 0 genome.wustl.edu 37 11 116658284 116658284 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 116658284 116658284 A C SNP ZNF259 ENST00000227322 human ensembl 74_37 -1 known missense c.247 p.C83G 1.000 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 113 0 0 35 16 31.3725 TMPRSS13 0 genome.wustl.edu 37 11 117789464 117789464 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 117789464 117789464 G T SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known silent c.111 p.A37 0.001 pirsf_Peptidase_S1A_TMPRSS13 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 109 0 0 37 22 37.2881 TRIM29 0 genome.wustl.edu 37 11 119993751 119993751 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 119993751 119993751 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.1346 p.R449H 1.000 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 140 0 0 54 18 25 TRIM29 0 genome.wustl.edu 37 11 119996467 119996467 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 119996467 119996467 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.1265 p.R422H 0.998 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 79 0 0 44 4 8.33333 TRIM29 0 genome.wustl.edu 37 11 120008538 120008538 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 120008538 120008538 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.202 p.A68T 0.064 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 286 0 0 100 53 34.6405 TRIM29 0 genome.wustl.edu 37 11 120008669 120008669 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 120008669 120008669 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.71 p.G24D 0.813 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 62 0 0 32 16 33.3333 TECTA 0 genome.wustl.edu 37 11 121038848 121038848 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 121038848 121038848 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5672 p.T1891M 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 215 0 0 71 38 34.8624 SORL1 0 genome.wustl.edu 37 11 121495927 121495927 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 121495927 121495927 T C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.6305 p.L2102P 0.985 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 166 0 0 60 23 27.7108 MUC5AC 0 genome.wustl.edu 37 11 1215389 1215389 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1215389 1215389 T C SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors MUC5AC HGNC ENSG00000215182 77 0 0 26 15 36.5854 MICAL2 0 genome.wustl.edu 37 11 12234929 12234929 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 12234929 12234929 A T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.819 p.K273N 0.984 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 271 0 0 63 32 33.6842 BSX 0 genome.wustl.edu 37 11 122848477 122848477 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 122848477 122848477 G A SNP BSX ENST00000343035 human ensembl 74_37 -1 known silent c.582 p.A194 0.013 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 49 0 0 14 8 36.3636 GRAMD1B 0 genome.wustl.edu 37 11 123484322 123484322 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 123484322 123484322 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1754 p.T585M 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 61 0 0 23 7 23.3333 OR8B12 0 genome.wustl.edu 37 11 124413368 124413368 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 124413368 124413368 G A SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known silent c.183 p.F61 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 121 0 0 57 18 24 PUS3 0 genome.wustl.edu 37 11 125763900 125763900 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 125763900 125763900 C T SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.1226 p.R409H 1.000 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 202 0 0 83 37 30.8333 MUC5B 0 genome.wustl.edu 37 11 1265384 1265384 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1265384 1265384 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7283 p.M2428T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 98 0 0 59 11 15.7143 KCNJ5 0 genome.wustl.edu 37 11 128786370 128786370 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 128786370 128786370 C T SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.1004 p.P335L 0.999 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 212 0 0 77 26 25.2427 OPCML 0 genome.wustl.edu 37 11 132306587 132306587 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 132306587 132306587 T C SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.751 p.M251V 0.011 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,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 77 0 0 31 14 31.1111 ARNTL 0 genome.wustl.edu 37 11 13393879 13393879 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 13393879 13393879 C T SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known silent c.990 p.N330 0.406 smart_PAS pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 109 1 0.909091 46 24 34.2857 JAM3 0 genome.wustl.edu 37 11 134019044 134019044 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 134019044 134019044 G A SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.1036 p.D346N 0.941 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 44 0 0 26 7 21.2121 GLB1L3 0 genome.wustl.edu 37 11 134179653 134179653 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 134179653 134179653 C A SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.1095 p.S365R 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 28 0 0 10 9 47.3684 PTH 0 genome.wustl.edu 37 11 13514363 13514363 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 13514363 13514363 T C SNP PTH ENST00000282091 human ensembl 74_37 -1 known missense c.40 p.M14V 1.000 pfam_PTH/PTH-rel,pirsf_PTH pfam_PTH/PTH-rel,smart_PTH/PTH-rel,pirsf_PTH - no_errors PTH HGNC ENSG00000152266 59 0 0 24 13 35.1351 KRTAP5-4 0 genome.wustl.edu 37 11 1643096 1643096 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1643096 1643096 G A SNP KRTAP5-4 ENST00000399682 human ensembl 74_37 -1 known silent c.228 p.G76 0.274 NULL NULL - no_errors KRTAP5-4 HGNC ENSG00000241598 316 1 0.315457 71 18 20.2247 PLEKHA7 0 genome.wustl.edu 37 11 16837793 16837793 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 16837793 16837793 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known nonsense c.1885 p.R629* 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 51 0 0 17 7 29.1667 USH1C 0 genome.wustl.edu 37 11 17531058 17531058 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 17531058 17531058 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1858 p.R620C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 82 0 0 24 12 33.3333 TNNI2 0 genome.wustl.edu 37 11 1861852 1861852 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 1861852 1861852 C T SNP TNNI2 ENST00000252898 human ensembl 74_37 +1 known missense c.152 p.P51L 0.770 pfam_Troponin pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 82 0 0 27 10 27.027 NAV2 0 genome.wustl.edu 37 11 20122554 20122554 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 20122554 20122554 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.6430 p.V2144I 1.000 superfamily_P-loop_NTPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 250 0 0 60 26 30.2326 NAV2 0 genome.wustl.edu 37 11 20136150 20136150 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 20136150 20136150 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.7150 p.R2384C 1.000 superfamily_P-loop_NTPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 72 0 0 27 7 20.5882 SLC6A5 0 genome.wustl.edu 37 11 20628625 20628625 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 20628625 20628625 T C SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.752 p.L251P 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 70 0 0 21 15 41.6667 MUC15 0 genome.wustl.edu 37 11 26586992 26586992 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 26586992 26586992 G A SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known silent c.495 p.P165 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 215 0 0 82 36 30.5085 LGR4 0 genome.wustl.edu 37 11 27389978 27389978 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 27389978 27389978 C T SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known silent c.2292 p.A764 0.145 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 180 0 0 69 39 36.1111 LGR4 0 genome.wustl.edu 37 11 27403790 27403790 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 27403790 27403790 T C SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.703 p.N235D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 79 0 0 22 19 46.3415 ATHL1 0 genome.wustl.edu 37 11 292922 292922 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 292922 292922 G A SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.1195 p.V399M 0.982 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 78 0 0 39 12 23.5294 ATHL1 0 genome.wustl.edu 37 11 293077 293077 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 293077 293077 G A SNP ATHL1 ENST00000409479 human ensembl 74_37 +1 novel silent c.1266 p.T422 0.007 superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 138 0 0 56 27 32.5301 DCDC1 0 genome.wustl.edu 37 11 31327282 31327282 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 31327282 31327282 C T SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.634 p.A212T 0.866 pfscan_Doublecortin_dom pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 139 0 0 53 16 23.1884 PAX6 0 genome.wustl.edu 37 11 31822335 31822335 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 31822335 31822335 A G SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.469 p.Y157H 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 122 0 0 57 18 24 CAT 0 genome.wustl.edu 37 11 34489885 34489885 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 34489885 34489885 G A SNP CAT ENST00000241052 human ensembl 74_37 +1 known silent c.1377 p.L459 0.999 pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 203 0 0 70 36 33.9623 EHF 0 genome.wustl.edu 37 11 34668230 34668230 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 34668230 34668230 C T SNP EHF ENST00000257831 human ensembl 74_37 +1 known silent c.342 p.N114 0.496 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 286 0 0 99 38 27.7372 NUP98 0 genome.wustl.edu 37 11 3697519 3697519 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 3697519 3697519 G T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5273 p.P1758H 0.998 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 166 0 0 53 22 29.3333 LRRC4C 0 genome.wustl.edu 37 11 40136717 40136717 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 40136717 40136717 G A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.1126 p.R376W 0.998 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 131 0 0 79 18 18.5567 STIM1 0 genome.wustl.edu 37 11 4112898 4112898 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 4112898 4112898 G A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.1928 p.R643H 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 141 0 0 51 27 34.6154 HSD17B12 0 genome.wustl.edu 37 11 43861602 43861602 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 43861602 43861602 C T SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known silent c.672 p.G224 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 88 0 0 36 15 29.4118 TRIM21 0 genome.wustl.edu 37 11 4406849 4406849 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 4406849 4406849 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.1094 p.R365K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 30 0 0 10 3 23.0769 ALX4 0 genome.wustl.edu 37 11 44286458 44286458 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 44286458 44286458 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known silent c.1182 p.A394 0.411 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 66 0 0 25 12 32.4324 PRDM11 0 genome.wustl.edu 37 11 45204538 45204538 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 45204538 45204538 T C SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.452 p.M151T 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 93 0 0 27 16 37.2093 CHST1 0 genome.wustl.edu 37 11 45672017 45672017 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 45672017 45672017 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.457 p.R153C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 107 0 0 32 20 38.4615 F2 0 genome.wustl.edu 37 11 46749689 46749689 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 46749689 46749689 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1274 p.R425H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 19 0 0 7 4 36.3636 C11orf49 0 genome.wustl.edu 37 11 47159253 47159253 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 47159253 47159253 C T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.338 p.P113L 0.992 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 105 0 0 40 17 29.8246 MADD 0 genome.wustl.edu 37 11 47308066 47308066 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 47308066 47308066 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known silent c.2634 p.T878 0.015 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 MADD HGNC ENSG00000110514 179 0 0 67 27 28.7234 CELF1 0 genome.wustl.edu 37 11 47493853 47493853 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 47493853 47493853 C T SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known missense c.1468 p.G490S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 273 0 0 113 50 30.6748 OR52R1 0 genome.wustl.edu 37 11 4825233 4825233 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 4825233 4825233 G A SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known silent c.615 p.Y205 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 132 0 0 56 36 39.1304 OR52D1 0 genome.wustl.edu 37 11 5510846 5510846 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 5510846 5510846 C T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.910 p.R304W 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 110 0 0 31 13 29.5455 OR4A15 0 genome.wustl.edu 37 11 55136189 55136189 + Nonsense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 55136189 55136189 T A SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known nonsense c.830 p.L277* 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 296 0 0 178 19 9.64467 OR8K5 0 genome.wustl.edu 37 11 55926924 55926924 + Nonsense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 55926924 55926924 G C SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known nonsense c.870 p.Y290* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 105 0 0 43 15 25.8621 TRIM6 0 genome.wustl.edu 37 11 5632636 5632636 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 5632636 5632636 C A SNP TRIM6 ENST00000481603 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM6 HGNC ENSG00000121236 68 0 0 44 12 21.4286 CCDC86 0 genome.wustl.edu 37 11 60609936 60609936 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 60609936 60609936 C T SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known silent c.339 p.S113 0.908 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 168 0 0 60 17 22.0779 MYRF 0 genome.wustl.edu 37 11 61533538 61533538 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 61533538 61533538 A G SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.243 p.G81 0.995 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 17 0 0 4 7 63.6364 FADS3 0 genome.wustl.edu 37 11 61646235 61646235 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 61646235 61646235 C T SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known missense c.607 p.V203M 0.998 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 76 0 0 25 11 30.5556 EML3 0 genome.wustl.edu 37 11 62376111 62376111 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 62376111 62376111 A G SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1013 p.V338A 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 276 1 0.361011 91 62 40.5229 FAM160A2 0 genome.wustl.edu 37 11 6239917 6239917 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 6239917 6239917 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1348 p.A450T 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 188 0 0 72 34 32.0755 FLRT1 0 genome.wustl.edu 37 11 63884684 63884684 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 63884684 63884684 C T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known silent c.945 p.D315 0.049 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 65 0 0 29 7 19.4444 FERMT3 0 genome.wustl.edu 37 11 63987936 63987936 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 63987936 63987936 G A SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known missense c.1352 p.G451D 1.000 pfam_FERM_central,pfam_Pleckstrin_homology,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 23 0 0 30 15 33.3333 NRXN2 0 genome.wustl.edu 37 11 64390437 64390437 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64390437 64390437 G T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3961 p.L1321M 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 27 0 0 12 4 25 NRXN2 0 genome.wustl.edu 37 11 64397897 64397897 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64397897 64397897 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3734 p.P1245L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 109 0 0 27 14 34.1463 EHD1 0 genome.wustl.edu 37 11 64622217 64622217 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64622217 64622217 C T SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.1193 p.R398Q 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 378 0 0 136 48 26.087 TRIM3 0 genome.wustl.edu 37 11 6478933 6478933 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 6478933 6478933 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.508 p.R170C 1.000 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 106 0 0 60 4 6.25 DPF2 0 genome.wustl.edu 37 11 65108459 65108459 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65108459 65108459 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known silent c.216 p.Y72 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 40 0 0 26 11 29.7297 MALAT1 0 genome.wustl.edu 37 11 65267838 65267838 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65267838 65267838 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors MALAT1 HGNC ENSG00000251562 68 0 0 23 12 34.2857 LTBP3 0 genome.wustl.edu 37 11 65308389 65308389 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65308389 65308389 T C SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.2930 p.Y977C 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 43 0 0 16 8 33.3333 EHBP1L1 0 genome.wustl.edu 37 11 65350555 65350555 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65350555 65350555 A G SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.2412 p.S804 0.026 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 83 0 0 20 10 33.3333 CARNS1 0 genome.wustl.edu 37 11 67191150 67191150 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 67191150 67191150 C T SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.1931 p.A644V 0.170 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 12 0 0 8 5 38.4615 FAM86C2P 0 genome.wustl.edu 37 11 67560517 67560517 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 67560517 67560517 T C SNP FAM86C2P ENST00000528089 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors FAM86C2P HGNC ENSG00000160172 15 0 0 18 3 14.2857 ALDH3B1 0 genome.wustl.edu 37 11 67789245 67789245 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 67789245 67789245 T C SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known missense c.851 p.I284T 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3B1 HGNC ENSG00000006534 250 0 0 81 32 28.3186 DEAF1 0 genome.wustl.edu 37 11 679801 679801 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 679801 679801 G A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.1013 p.S338L 0.991 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 53 0 0 29 14 32.5581 MTL5 0 genome.wustl.edu 37 11 68517988 68517988 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 68517988 68517988 G A SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known silent c.141 p.H47 0.185 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 22 0 0 4 5 55.5556 OR2D3 0 genome.wustl.edu 37 11 6942872 6942872 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 6942872 6942872 G A SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.640 p.A214T 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 74 0 0 54 16 22.8571 SHANK2 0 genome.wustl.edu 37 11 70338495 70338495 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 70338495 70338495 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.2387 p.A796V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 75 0 0 29 16 35.5556 DHCR7 0 genome.wustl.edu 37 11 71146749 71146749 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 71146749 71146749 C T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.1100 p.R367H 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 66 0 0 30 7 18.9189 KRTAP5-10 0 genome.wustl.edu 37 11 71276739 71276739 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 71276739 71276739 G T SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known missense c.106 p.G36W 1.000 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 261 0 0 69 37 34.9057 NUMA1 0 genome.wustl.edu 37 11 71726711 71726711 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 71726711 71726711 T G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.1838 p.K613T 0.977 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 70 0 0 44 17 27.8689 PDE2A 0 genome.wustl.edu 37 11 72295937 72295937 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 72295937 72295937 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1338 p.D446 0.324 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 107 0 0 38 8 17.3913 PDE2A 0 genome.wustl.edu 37 11 72385209 72385209 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 72385209 72385209 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known nonsense c.43 p.Q15* 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 50 0 0 16 6 27.2727 ARHGEF17 0 genome.wustl.edu 37 11 73020660 73020660 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 73020660 73020660 G T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.977 p.S326I 0.764 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 198 0 0 64 27 29.6703 ARHGEF17 0 genome.wustl.edu 37 11 73021304 73021304 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 73021304 73021304 C A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1621 p.L541M 0.091 superfamily_Vinculin/catenin pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 86 0 0 36 19 34.5455 PPFIBP2 0 genome.wustl.edu 37 11 7663564 7663564 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 7663564 7663564 A G SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.1553 p.D518G 0.901 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 63 0 0 29 6 17.1429 CAPN5 0 genome.wustl.edu 37 11 76831837 76831837 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 76831837 76831837 G A SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.1369 p.V457I 0.999 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 277 0 0 88 42 32.3077 FZD4 0 genome.wustl.edu 37 11 86662525 86662525 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 86662525 86662525 T C SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known missense c.1273 p.T425A 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 215 0 0 88 34 27.8689 TMEM135 0 genome.wustl.edu 37 11 87029231 87029231 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 87029231 87029231 C T SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known missense c.1130 p.A377V 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 154 0 0 52 14 21.2121 FAT3 0 genome.wustl.edu 37 11 92531574 92531574 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 92531574 92531574 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.5395 p.R1799 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 32 0 0 18 8 30.7692 FAT3 0 genome.wustl.edu 37 11 92577235 92577235 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 92577235 92577235 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10702 p.G3568W 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 297 0 0 129 52 28.7293 FAT3 0 genome.wustl.edu 37 11 92623907 92623907 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 92623907 92623907 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.13398 p.L4466 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 33 0 0 20 5 20 WNK1 0 genome.wustl.edu 37 12 1009685 1009685 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 1009685 1009685 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.7986 p.Q2662 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 264 0 0 140 55 28.2051 SLC5A8 0 genome.wustl.edu 37 12 101588916 101588916 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 101588916 101588916 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.494 p.A165V 0.986 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 67 0 0 32 8 20 MYBPC1 0 genome.wustl.edu 37 12 102041875 102041875 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 102041875 102041875 G A SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.1143 p.G381 0.978 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 125 0 0 56 19 25.3333 GNPTAB 0 genome.wustl.edu 37 12 102164271 102164271 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 102164271 102164271 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known nonsense c.1026 p.W342* 1.000 pfam_DUF3184 pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 56 0 0 33 29 46.7742 STAB2 0 genome.wustl.edu 37 12 104152955 104152955 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 104152955 104152955 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.7152 p.S2384 0.014 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 179 0 0 93 23 19.8276 GLT8D2 0 genome.wustl.edu 37 12 104388188 104388188 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 104388188 104388188 A T SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.692 p.I231N 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 79 0 0 43 12 21.8182 SLC41A2 0 genome.wustl.edu 37 12 105321865 105321865 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 105321865 105321865 C T SNP SLC41A2 ENST00000258538 human ensembl 74_37 -1 known silent c.441 p.V147 0.000 NULL pfam_SLC41_membr_dom - no_errors SLC41A2 HGNC ENSG00000136052 159 0 0 104 28 21.2121 NUAK1 0 genome.wustl.edu 37 12 106460837 106460837 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 106460837 106460837 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1729 p.V577M 0.994 NULL 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 NUAK1 HGNC ENSG00000074590 53 0 0 51 13 20.3125 FICD 0 genome.wustl.edu 37 12 108912632 108912632 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 108912632 108912632 G A SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.757 p.V253M 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 59 0 0 35 30 46.1538 MYO1H 0 genome.wustl.edu 37 12 109826583 109826583 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 109826583 109826583 C T SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known silent c.60 p.D20 0.793 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 412 0 0 134 120 47.2441 MYL2 0 genome.wustl.edu 37 12 111352095 111352095 + Splice_Site SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 111352095 111352095 C A SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known splice_site c.170-1 e4-1 1.000 - - - no_errors MYL2 HGNC ENSG00000111245 61 0 0 33 9 21.4286 TAS2R19 0 genome.wustl.edu 37 12 11174710 11174710 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 11174710 11174710 C T SNP TAS2R19 ENST00000390673 human ensembl 74_37 -1 known nonsense c.461 p.W154* 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R19 HGNC ENSG00000212124 151 0 0 71 59 45.3846 ACAD10 0 genome.wustl.edu 37 12 112184963 112184963 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112184963 112184963 C T SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known silent c.2460 p.R820 0.996 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 63 0 0 34 14 29.1667 ALDH2 0 genome.wustl.edu 37 12 112221025 112221025 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112221025 112221025 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.283 p.R95C 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 219 0 0 104 24 18.75 TRAFD1 0 genome.wustl.edu 37 12 112590274 112590274 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112590274 112590274 G A SNP TRAFD1 ENST00000257604 human ensembl 74_37 +1 known missense c.1663 p.A555T 0.000 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 174 0 0 36 36 50 HECTD4 0 genome.wustl.edu 37 12 112622703 112622703 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112622703 112622703 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.9551 p.R3184H 0.998 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 77 0 0 41 12 22.6415 HECTD4 0 genome.wustl.edu 37 12 112688019 112688019 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112688019 112688019 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.3363 p.L1121 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 91 0 0 46 27 36.9863 DDX54 0 genome.wustl.edu 37 12 113600758 113600758 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 113600758 113600758 C A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.2174 p.R725M 0.986 pfam_DBP10CT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 90 0 0 53 6 10.1695 RBM19 0 genome.wustl.edu 37 12 114296674 114296674 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 114296674 114296674 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known silent c.2586 p.R862 0.998 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 79 0 0 29 12 29.2683 MED13L 0 genome.wustl.edu 37 12 116422119 116422119 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 116422119 116422119 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.4397 p.R1466H 0.861 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 68 0 0 40 9 18.3673 CIT 0 genome.wustl.edu 37 12 120189988 120189988 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 120189988 120189988 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.2645 p.S882F 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 53 0 0 25 14 35.8974 ANAPC5 0 genome.wustl.edu 37 12 121757618 121757618 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 121757618 121757618 A G SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1519 p.W507R 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 57 0 0 21 24 53.3333 KDM2B 0 genome.wustl.edu 37 12 121958808 121958808 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 121958808 121958808 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.1027 p.E343K 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 82 0 0 42 14 25 MORN3 0 genome.wustl.edu 37 12 122107246 122107246 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122107246 122107246 G A SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known silent c.144 p.H48 0.943 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 145 0 0 104 24 18.75 BCL7A 0 genome.wustl.edu 37 12 122481866 122481866 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122481866 122481866 G A SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known missense c.346 p.A116T 0.929 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 196 0 0 103 28 21.374 BCL7A 0 genome.wustl.edu 37 12 122492808 122492808 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122492808 122492808 C T SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known silent c.537 p.A179 0.000 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 208 0 0 104 36 25.7143 IL31 0 genome.wustl.edu 37 12 122658459 122658459 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122658459 122658459 G A SNP IL31 ENST00000377035 human ensembl 74_37 -1 known nonsense c.97 p.R33* 0.000 NULL NULL - no_errors IL31 HGNC ENSG00000204671 135 0 0 60 46 43.3962 CLIP1 0 genome.wustl.edu 37 12 122848546 122848546 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122848546 122848546 C T SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.766 p.A256T 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 62 0 0 33 5 13.1579 HCAR3 0 genome.wustl.edu 37 12 123201180 123201180 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 123201180 123201180 C T SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known silent c.105 p.G35 0.074 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 74 0 0 55 17 23.6111 C12orf65 0 genome.wustl.edu 37 12 123738251 123738251 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 123738251 123738251 T G SNP C12orf65 ENST00000253233 human ensembl 74_37 +1 known silent c.30 p.P10 0.000 NULL pfam_Pep_chain_release_fac_I_II - no_errors C12orf65 HGNC ENSG00000130921 128 0 0 60 23 27.7108 DDX55 0 genome.wustl.edu 37 12 124102357 124102357 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 124102357 124102357 G A SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known missense c.1102 p.A368T 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 143 0 0 98 29 22.8346 NCOR2 0 genome.wustl.edu 37 12 124870328 124870328 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 124870328 124870328 T C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1982 p.N661S 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 181 1 0.549451 56 61 52.1368 BRI3BP 0 genome.wustl.edu 37 12 125509729 125509729 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 125509729 125509729 G A SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known missense c.509 p.C170Y 1.000 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 144 0 0 84 27 24.3243 TMEM132B 0 genome.wustl.edu 37 12 125834260 125834260 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 125834260 125834260 T C SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.315 p.S105 0.005 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 214 0 0 140 51 26.7016 SFSWAP 0 genome.wustl.edu 37 12 132211522 132211522 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132211522 132211522 T A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.870 p.D290E 0.031 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 87 0 0 45 15 25 ULK1 0 genome.wustl.edu 37 12 132398927 132398927 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132398927 132398927 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.1278 p.C426 0.050 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 135 0 0 74 20 21.2766 PUS1 0 genome.wustl.edu 37 12 132416772 132416772 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132416772 132416772 C A SNP PUS1 ENST00000376649 human ensembl 74_37 +1 known missense c.356 p.A119D 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 48 0 0 33 10 23.2558 PUS1 0 genome.wustl.edu 37 12 132426072 132426072 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132426072 132426072 C T SNP PUS1 ENST00000376649 human ensembl 74_37 +1 known silent c.780 p.C260 0.190 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 110 0 0 56 21 27.2727 EP400 0 genome.wustl.edu 37 12 132504671 132504671 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132504671 132504671 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.4463 p.T1488M 0.994 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 127 0 0 51 30 37.037 NOC4L 0 genome.wustl.edu 37 12 132632496 132632496 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 132632496 132632496 C T SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known silent c.675 p.T225 0.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 23 0 0 20 10 33.3333 GOLGA3 0 genome.wustl.edu 37 12 133360718 133360718 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 133360718 133360718 C T SNP GOLGA3 ENST00000545875 human ensembl 74_37 -1 known missense c.3299 p.R1100H 0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 44 0 0 34 7 17.0732 ZNF10 0 genome.wustl.edu 37 12 133733401 133733401 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 133733401 133733401 C T SNP ZNF10 ENST00000248211 human ensembl 74_37 +1 known silent c.1569 p.G523 0.312 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 ZNF10 HGNC ENSG00000256223 96 0 0 46 44 48.8889 GRIN2B 0 genome.wustl.edu 37 12 13715915 13715915 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 13715915 13715915 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.4257 p.P1419 0.041 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 85 0 0 63 18 22.2222 GRIN2B 0 genome.wustl.edu 37 12 13716141 13716141 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 13716141 13716141 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.4031 p.A1344V 0.995 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 72 0 0 41 41 50 SLCO1C1 0 genome.wustl.edu 37 12 20903684 20903684 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 20903684 20903684 G T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1874 p.G625V 1.000 pfam_OA_transporter,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 94 0 0 43 33 43.4211 GYS2 0 genome.wustl.edu 37 12 21721877 21721877 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 21721877 21721877 C T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.745 p.V249I 0.987 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 158 0 0 92 28 23.3333 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 23 0 0 10 19 65.5172 OVCH1 0 genome.wustl.edu 37 12 29640731 29640731 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 29640731 29640731 C T SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.787 p.A263T 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 30 0 0 18 7 28 OVCH1 0 genome.wustl.edu 37 12 29648250 29648250 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 29648250 29648250 G A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.422 p.A141V 0.793 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 290 0 0 102 82 44.5652 LRRK2 0 genome.wustl.edu 37 12 40702310 40702310 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 40702310 40702310 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.4001 p.R1334Q 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 68 0 0 46 7 13.2075 ADAMTS20 0 genome.wustl.edu 37 12 43822569 43822569 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 43822569 43822569 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.3523 p.R1175C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 159 0 0 61 20 24.6914 ADAMTS20 0 genome.wustl.edu 37 12 43925845 43925845 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 43925845 43925845 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.607 p.V203M 0.100 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 58 0 0 28 8 22.2222 TMEM117 0 genome.wustl.edu 37 12 44781841 44781841 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 44781841 44781841 G A SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.931 p.V311I 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 51 0 0 21 18 46.1538 FGF23 0 genome.wustl.edu 37 12 4479894 4479894 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4479894 4479894 T C SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.371 p.Y124C 0.739 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 266 0 0 107 21 16.4062 NELL2 0 genome.wustl.edu 37 12 45173705 45173705 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 45173705 45173705 C A SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.586 p.A196S 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 NELL2 HGNC ENSG00000184613 208 0 0 108 30 21.7391 ARID2 0 genome.wustl.edu 37 12 46123895 46123895 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 46123895 46123895 T C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.161 p.V54A 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 70 0 0 40 5 11.1111 RAD51AP1 0 genome.wustl.edu 37 12 4655492 4655492 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4655492 4655492 A G SNP RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known missense c.278 p.K93R 1.000 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 90 0 0 57 14 19.7183 DYRK4 0 genome.wustl.edu 37 12 4705421 4705421 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4705421 4705421 T C SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.389 p.V130A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 187 0 0 95 26 21.4876 HDAC7 0 genome.wustl.edu 37 12 48179218 48179218 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 48179218 48179218 G A SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.2794 p.P932S 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 240 0 0 93 78 45.614 OR8S1 0 genome.wustl.edu 37 12 48921732 48921732 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 48921732 48921732 A G SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known missense c.926 p.Q309R 0.477 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 59 0 0 19 15 44.1176 ASIC1 0 genome.wustl.edu 37 12 50452564 50452564 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 50452564 50452564 C T SNP ASIC1 ENST00000228468 human ensembl 74_37 +1 known silent c.15 p.A5 0.944 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 111 1 0.892857 64 18 21.9512 LARP4 0 genome.wustl.edu 37 12 50835413 50835413 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 50835413 50835413 G A SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known missense c.809 p.G270D 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 96 0 0 44 10 18.5185 TMPRSS12 0 genome.wustl.edu 37 12 51237698 51237698 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 51237698 51237698 C T SNP TMPRSS12 ENST00000398458 human ensembl 74_37 +1 known silent c.261 p.G87 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC ENSG00000186452 15 0 0 5 4 44.4444 KRT86 0 genome.wustl.edu 37 12 52695966 52695966 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 52695966 52695966 C T SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known missense c.266 p.T89M 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 8 0 0 10 13 56.5217 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 120 0 0 32 41 56.1644 KRT2 0 genome.wustl.edu 37 12 53040721 53040721 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 53040721 53040721 G A SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known silent c.1272 p.I424 0.961 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 124 0 0 50 55 52.381 OR10P1 0 genome.wustl.edu 37 12 56031165 56031165 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56031165 56031165 A G SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known missense c.490 p.I164V 0.967 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10P1 HGNC ENSG00000175398 121 0 0 71 25 26.0417 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104M 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 211 0 0 123 28 18.543 ESYT1 0 genome.wustl.edu 37 12 56536104 56536104 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56536104 56536104 A G SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.2658 p.L886 0.007 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 185 0 0 114 35 23.4899 ANKRD52 0 genome.wustl.edu 37 12 56648052 56648052 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56648052 56648052 G T SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known silent c.705 p.P235 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 295 0 0 95 55 36.6667 ATP5B 0 genome.wustl.edu 37 12 57033006 57033006 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57033006 57033006 C T SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.1373 p.R458Q 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 129 0 0 82 39 32.2314 LRP1 0 genome.wustl.edu 37 12 57535223 57535223 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57535223 57535223 T C SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.257 p.V86A 0.888 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt 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 63 0 0 40 20 33.3333 LRP1 0 genome.wustl.edu 37 12 57554890 57554890 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57554890 57554890 G T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.2194 p.D732Y 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 137 0 0 81 39 32.5 LRP1 0 genome.wustl.edu 37 12 57598433 57598433 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57598433 57598433 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.11095 p.R3699W 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt 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 198 0 0 96 19 16.5217 GLI1 0 genome.wustl.edu 37 12 57859040 57859040 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57859040 57859040 T C SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known splice_site c.534+2 e4+2 0.996 - - - no_errors GLI1 HGNC ENSG00000111087 69 0 0 29 7 19.4444 ANO2 0 genome.wustl.edu 37 12 6031894 6031894 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 6031894 6031894 A G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.87 p.H29 0.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 35 0 0 10 7 41.1765 VWF 0 genome.wustl.edu 37 12 6135070 6135070 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 6135070 6135070 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known splice_site c.3108+2 e22+2 0.995 - - - no_errors VWF HGNC ENSG00000110799 132 0 0 70 21 23.0769 ENSG00000255886 0 genome.wustl.edu 37 12 64491284 64491284 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 64491284 64491284 A G SNP ENSG00000255886 ENST00000535594 human ensembl 74_37 -1 known rna NULL NULL 0.483 - - - no_errors RP11-196H14.2 Clone_based_vega_gene ENSG00000255886 9 0 0 6 4 40 SRGAP1 0 genome.wustl.edu 37 12 64519881 64519881 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 64519881 64519881 C T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.2349 p.G783 0.270 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 108 0 0 65 21 24.4186 TBK1 0 genome.wustl.edu 37 12 64895142 64895142 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 64895142 64895142 G A SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known missense c.2171 p.R724H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TBK1 HGNC ENSG00000183735 158 0 0 115 7 5.7377 IRAK3 0 genome.wustl.edu 37 12 66620619 66620619 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 66620619 66620619 T C SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known splice_site c.768+2 e7+2 1.000 - - - no_errors IRAK3 HGNC ENSG00000090376 51 0 0 22 25 53.1915 CNOT2 0 genome.wustl.edu 37 12 70732481 70732481 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 70732481 70732481 G T SNP CNOT2 ENST00000229195 human ensembl 74_37 +1 known missense c.1057 p.D353Y 1.000 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 107 0 0 70 18 20.4545 CD163L1 0 genome.wustl.edu 37 12 7522059 7522059 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 7522059 7522059 A G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.3933 p.D1311 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 208 0 0 110 32 22.5352 ENSG00000257434 0 genome.wustl.edu 37 12 75437092 75437092 + RNA SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 75437092 75437092 G T SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 26 0 0 22 4 15.3846 SYT1 0 genome.wustl.edu 37 12 79689885 79689885 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 79689885 79689885 G A SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.511 p.A171T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 103 0 0 49 21 30 METTL25 0 genome.wustl.edu 37 12 82872739 82872739 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 82872739 82872739 A G SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.1748 p.K583R 1.000 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 106 0 0 56 19 25.3333 PHC1 0 genome.wustl.edu 37 12 9083041 9083041 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 9083041 9083041 T C SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.623 p.L208S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 33 0 0 8 4 33.3333 EEA1 0 genome.wustl.edu 37 12 93251100 93251100 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 93251100 93251100 G A SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.317 p.S106L 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 54 0 0 46 14 23.3333 TMPO 0 genome.wustl.edu 37 12 98909808 98909808 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 98909808 98909808 G A SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.163 p.A55T 1.000 superfamily_LEM/LEM-like_dom pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 44 0 0 10 11 52.381 ZIC5 0 genome.wustl.edu 37 13 100622673 100622673 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 100622673 100622673 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1257 p.P419 0.157 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 14 0 0 11 4 26.6667 ZIC2 0 genome.wustl.edu 37 13 100637592 100637592 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 100637592 100637592 C A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.1255 p.P419T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 55 0 0 31 7 18.4211 PCCA 0 genome.wustl.edu 37 13 100909900 100909900 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 100909900 100909900 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 58 0 0 25 6 19.3548 LIG4 0 genome.wustl.edu 37 13 108861786 108861786 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 108861786 108861786 C T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.1831 p.A611T 1.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 118 0 0 83 21 20.1923 MCF2L 0 genome.wustl.edu 37 13 113719271 113719271 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 113719271 113719271 A G SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.799 p.M267V 0.996 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 75 0 0 32 15 31.9149 MCF2L 0 genome.wustl.edu 37 13 113750894 113750894 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 113750894 113750894 G C SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.3390 p.E1130D 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 28 0 0 14 2 12.5 PCID2 0 genome.wustl.edu 37 13 113835535 113835535 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 113835535 113835535 T C SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.857 p.Y286C 1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 90 0 0 58 14 19.4444 GAS6-AS1 0 genome.wustl.edu 37 13 114537699 114537699 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 114537699 114537699 C T SNP GAS6-AS1 ENST00000458001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GAS6-AS1 HGNC ENSG00000233695 72 0 0 24 6 20 RASA3 0 genome.wustl.edu 37 13 114776705 114776705 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 114776705 114776705 G A SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.1532 p.T511M 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 58 0 0 9 8 47.0588 USPL1 0 genome.wustl.edu 37 13 31233355 31233355 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 31233355 31233355 C T SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known silent c.3141 p.C1047 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 150 0 0 91 30 24.7934 USPL1 0 genome.wustl.edu 37 13 31233466 31233466 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 31233466 31233466 C T SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known silent c.3252 p.F1084 0.989 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 91 0 0 59 10 14.4928 MEDAG 0 genome.wustl.edu 37 13 31480912 31480912 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 31480912 31480912 T G SNP MEDAG ENST00000380482 human ensembl 74_37 +1 known missense c.260 p.L87R 1.000 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 14 0 0 9 5 35.7143 KL 0 genome.wustl.edu 37 13 33590827 33590827 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 33590827 33590827 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.249 p.H83 0.999 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 24 0 0 17 12 41.3793 KL 0 genome.wustl.edu 37 13 33591260 33591260 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 33591260 33591260 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.682 p.G228S 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 54 0 0 31 9 22.5 EXOSC8 0 genome.wustl.edu 37 13 37582924 37582924 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 37582924 37582924 A C SNP EXOSC8 ENST00000389704 human ensembl 74_37 +1 known missense c.667 p.T223P 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 50 0 0 45 15 25 FREM2 0 genome.wustl.edu 37 13 39435611 39435611 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 39435611 39435611 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.7563 p.P2521 0.003 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 67 0 0 56 20 26.3158 LHFP 0 genome.wustl.edu 37 13 40175215 40175215 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 40175215 40175215 A G SNP LHFP ENST00000379589 human ensembl 74_37 -1 known missense c.139 p.F47L 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC ENSG00000183722 364 0 0 171 34 16.5854 SUGT1P3 0 genome.wustl.edu 37 13 41486766 41486766 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 41486766 41486766 C A SNP SUGT1P3 ENST00000304932 human ensembl 74_37 -1 known rna NULL NULL 0.712 - - - no_errors SUGT1P3 HGNC ENSG00000239827 28 0 0 17 4 19.0476 VWA8 0 genome.wustl.edu 37 13 42407530 42407530 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 42407530 42407530 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.1563 p.A521 0.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 58 0 0 33 9 21.4286 AKAP11 0 genome.wustl.edu 37 13 42877676 42877676 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 42877676 42877676 C T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.4794 p.C1598 0.897 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 195 0 0 149 40 21.164 TSC22D1 0 genome.wustl.edu 37 13 45149774 45149774 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 45149774 45149774 G A SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.437 p.T146M 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 110 0 0 59 28 32.1839 COG3 0 genome.wustl.edu 37 13 46103989 46103989 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 46103989 46103989 T C SNP COG3 ENST00000349995 human ensembl 74_37 +1 known missense c.2294 p.L765S 0.999 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 142 0 0 101 34 25.1852 SERPINE3 0 genome.wustl.edu 37 13 51935996 51935996 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 51935996 51935996 C T SNP SERPINE3 ENST00000521255 human ensembl 74_37 +1 known missense c.1138 p.P380S 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 64 0 0 43 12 21.8182 THSD1 0 genome.wustl.edu 37 13 52960256 52960256 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 52960256 52960256 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1087 p.R363C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 188 0 0 78 29 27.1028 THSD1 0 genome.wustl.edu 37 13 52960305 52960305 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 52960305 52960305 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known nonsense c.1038 p.W346* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 206 1 0.483092 86 32 27.1186 THSD1 0 genome.wustl.edu 37 13 52971604 52971604 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 52971604 52971604 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.784 p.P262S 0.982 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 98 0 0 60 22 26.8293 PCDH8 0 genome.wustl.edu 37 13 53420351 53420351 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 53420351 53420351 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2221 p.G741R 0.922 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 66 0 0 20 10 33.3333 PCDH17 0 genome.wustl.edu 37 13 58207290 58207290 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 58207290 58207290 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.610 p.E204K 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 PCDH17 HGNC ENSG00000118946 44 0 0 33 13 28.2609 PCDH17 0 genome.wustl.edu 37 13 58207934 58207934 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 58207934 58207934 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1254 p.Y418 0.985 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 PCDH17 HGNC ENSG00000118946 39 0 0 19 6 24 PCDH17 0 genome.wustl.edu 37 13 58208012 58208012 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 58208012 58208012 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1332 p.A444 0.969 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 72 0 0 43 11 20.3704 PCDH17 0 genome.wustl.edu 37 13 58208351 58208351 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 58208351 58208351 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1671 p.S557 0.000 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 PCDH17 HGNC ENSG00000118946 100 1 0.990099 39 16 29.0909 NDFIP2 0 genome.wustl.edu 37 13 80125185 80125185 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 80125185 80125185 A T SNP NDFIP2 ENST00000218652 human ensembl 74_37 +1 known missense c.941 p.Y314F 1.000 pfam_NEDD4/BSD2 pfam_NEDD4/BSD2 - no_errors NDFIP2 HGNC ENSG00000102471 332 0 0 195 12 5.7971 SLITRK6 0 genome.wustl.edu 37 13 86369595 86369595 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 86369595 86369595 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1049 p.R350H 0.957 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 147 0 0 95 25 20.8333 DZIP1 0 genome.wustl.edu 37 13 96242593 96242593 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 96242593 96242593 G A SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known nonsense c.1783 p.R595* 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 169 0 0 76 32 29.6296 RNF113B 0 genome.wustl.edu 37 13 98829062 98829062 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 98829062 98829062 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.429 p.H143 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 88 0 0 50 17 25.3731 DOCK9 0 genome.wustl.edu 37 13 99515771 99515771 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 99515771 99515771 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known silent c.3321 p.E1107 0.984 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 43 0 0 53 11 17.1875 YY1 0 genome.wustl.edu 37 14 100706003 100706003 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 100706003 100706003 G A SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.422 p.G141D 0.984 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 52 0 0 61 24 28.2353 MIR323A 0 genome.wustl.edu 37 14 101492130 101492130 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 101492130 101492130 G A SNP MIR323A ENST00000362199 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR323A HGNC ENSG00000199069 119 1 0.833333 57 19 25 DYNC1H1 0 genome.wustl.edu 37 14 102471550 102471550 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 102471550 102471550 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known nonsense c.5410 p.R1804* 0.985 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 94 0 0 26 18 40.9091 BAG5 0 genome.wustl.edu 37 14 104026839 104026839 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 104026839 104026839 C T SNP BAG5 ENST00000337322 human ensembl 74_37 -1 known silent c.786 p.S262 0.754 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 149 0 0 53 31 36.9048 AHNAK2 0 genome.wustl.edu 37 14 105406489 105406489 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 105406489 105406489 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15299 p.A5100V 0.233 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 189 0 0 74 21 22.1053 PACS2 0 genome.wustl.edu 37 14 105843234 105843234 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 105843234 105843234 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.931 p.V311I 0.999 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 132 1 0.75188 33 17 34 ENSG00000244306 0 genome.wustl.edu 37 14 19856897 19856897 + RNA SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 19856897 19856897 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 82 0 0 42 7 14.2857 OR4N5 0 genome.wustl.edu 37 14 20612565 20612565 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 20612565 20612565 G A SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.671 p.R224H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 163 0 0 105 39 27.0833 RNASE6 0 genome.wustl.edu 37 14 21250189 21250189 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 21250189 21250189 T C SNP RNASE6 ENST00000304677 human ensembl 74_37 +1 known missense c.331 p.Y111H 0.031 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC ENSG00000169413 232 0 0 106 47 30.719 LOC101929718 0 genome.wustl.edu 37 14 21464482 21464482 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 21464482 21464482 C T SNP LOC101929718 ENST00000557335 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 168 0 0 99 48 32.6531 AJUBA 0 genome.wustl.edu 37 14 23443287 23443287 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 23443287 23443287 C T SNP AJUBA ENST00000262713 human ensembl 74_37 -1 known missense c.1460 p.R487Q 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 338 0 0 89 35 28.2258 MYH6 0 genome.wustl.edu 37 14 23870060 23870060 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 23870060 23870060 T C SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.1268 p.Y423C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 142 1 0.699301 65 22 25.2874 MYH7 0 genome.wustl.edu 37 14 23891463 23891463 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 23891463 23891463 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.3171 p.G1057 0.001 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 104 0 0 45 18 28.5714 GZMH 0 genome.wustl.edu 37 14 25076614 25076614 + Splice_Site SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 25076614 25076614 T G SNP GZMH ENST00000216338 human ensembl 74_37 -1 known splice_site c.340-2 e4-2 0.995 - - - no_errors GZMH HGNC ENSG00000100450 55 0 0 33 15 31.25 FOXG1 0 genome.wustl.edu 37 14 29237333 29237333 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 29237333 29237333 A G SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.848 p.K283R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 79 0 0 55 19 25.6757 G2E3 0 genome.wustl.edu 37 14 31084704 31084704 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 31084704 31084704 A G SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.1823 p.K608R 0.296 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 156 0 0 64 41 39.0476 HEATR5A 0 genome.wustl.edu 37 14 31785042 31785042 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 31785042 31785042 T C SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known silent c.4134 p.L1378 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 33 0 0 13 4 23.5294 BAZ1A 0 genome.wustl.edu 37 14 35276669 35276669 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 35276669 35276669 G A SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known silent c.714 p.V238 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 47 0 0 17 11 39.2857 PSMA6 0 genome.wustl.edu 37 14 35782126 35782126 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 35782126 35782126 A G SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.449 p.Q150R 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 256 0 0 79 44 35.7724 KLHL28 0 genome.wustl.edu 37 14 45414707 45414707 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 45414707 45414707 C T SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.425 p.R142H 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 106 0 0 45 24 34.7826 FANCM 0 genome.wustl.edu 37 14 45642364 45642364 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 45642364 45642364 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.2267 p.R756H 0.988 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 148 0 0 57 18 24 RPL10L 0 genome.wustl.edu 37 14 47120511 47120511 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 47120511 47120511 C A SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.429 p.Q143H 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 129 0 0 57 37 39.3617 NEMF 0 genome.wustl.edu 37 14 50298924 50298924 + Splice_Site SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 50298924 50298924 C T SNP NEMF ENST00000298310 human ensembl 74_37 -1 known splice_site c.806+1 e9+1 1.000 - - - no_errors NEMF HGNC ENSG00000165525 107 0 0 44 11 20 GPR137C 0 genome.wustl.edu 37 14 53100600 53100600 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 53100600 53100600 G A SNP GPR137C ENST00000321662 human ensembl 74_37 +1 known missense c.1048 p.D350N 1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 135 0 0 46 14 23.3333 L3HYPDH 0 genome.wustl.edu 37 14 59950879 59950879 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 59950879 59950879 G T SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known silent c.156 p.R52 1.000 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 29 0 0 9 6 40 C14orf39 0 genome.wustl.edu 37 14 60928227 60928227 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 60928227 60928227 T C SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.1057 p.R353G 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 53 0 0 22 8 26.6667 PLEKHG3 0 genome.wustl.edu 37 14 65198119 65198119 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 65198119 65198119 T C SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.890 p.L297P 1.000 pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 76 0 0 32 11 25.5814 FUT8 0 genome.wustl.edu 37 14 66209057 66209057 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 66209057 66209057 T C SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.1657 p.Y553H 0.998 superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 119 0 0 53 23 30.2632 GPHN 0 genome.wustl.edu 37 14 67647553 67647553 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 67647553 67647553 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.2209 p.R737C 1.000 pfam_MoeA_C_domain_IV,superfamily_MoeA_C_domain_IV pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 46 0 0 27 14 34.1463 SLC8A3 0 genome.wustl.edu 37 14 70518795 70518795 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 70518795 70518795 T C SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.1943 p.E648G 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 154 0 0 34 20 37.037 MED6 0 genome.wustl.edu 37 14 71059641 71059641 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 71059641 71059641 G T SNP MED6 ENST00000256379 human ensembl 74_37 -1 known missense c.422 p.P141H 1.000 pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln pfam_Mediator_Med6,pirsf_Mediator_Med6_met/pln - no_errors MED6 HGNC ENSG00000133997 177 0 0 73 35 32.4074 C14orf169 0 genome.wustl.edu 37 14 73959945 73959945 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 73959945 73959945 A G SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 29 0 0 11 13 54.1667 YLPM1 0 genome.wustl.edu 37 14 75283784 75283784 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 75283784 75283784 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.5836 p.S1946G 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 32 0 0 8 7 46.6667 TMED10 0 genome.wustl.edu 37 14 75601704 75601704 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 75601704 75601704 T C SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known missense c.544 p.T182A 1.000 pfam_GOLD,pfscan_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 127 0 0 40 13 24.5283 TTLL5 0 genome.wustl.edu 37 14 76238150 76238150 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 76238150 76238150 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2089 p.G697S 0.948 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 207 0 0 89 41 31.5385 NRXN3 0 genome.wustl.edu 37 14 79175877 79175877 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 79175877 79175877 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.1533 p.L511 0.006 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 250 0 0 72 29 28.7129 NRXN3 0 genome.wustl.edu 37 14 79746819 79746819 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 79746819 79746819 G A SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known missense c.185 p.S62N 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 234 0 0 84 36 30 PTPN21 0 genome.wustl.edu 37 14 88945374 88945374 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 88945374 88945374 G T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2401 p.L801I 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 107 0 0 40 20 33.3333 TRIP11 0 genome.wustl.edu 37 14 92487911 92487911 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 92487911 92487911 G A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.577 p.H193Y 0.972 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 58 0 0 28 8 22.2222 CPSF2 0 genome.wustl.edu 37 14 92608661 92608661 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 92608661 92608661 T C SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.815 p.V272A 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 281 0 0 110 56 33.7349 RIN3 0 genome.wustl.edu 37 14 93118854 93118854 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 93118854 93118854 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.1460 p.A487V 0.000 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 190 0 0 52 26 33.3333 RIN3 0 genome.wustl.edu 37 14 93154577 93154577 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 93154577 93154577 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2938 p.R980W 0.717 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 27 0 0 12 5 29.4118 BTBD7 0 genome.wustl.edu 37 14 93761188 93761188 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 93761188 93761188 T C SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.178 p.T60A 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 267 0 0 88 46 34.3284 COX8C 0 genome.wustl.edu 37 14 93813633 93813633 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 93813633 93813633 C T SNP COX8C ENST00000342144 human ensembl 74_37 +1 known missense c.19 p.R7C 0.000 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8C HGNC ENSG00000187581 52 0 0 24 11 31.4286 SETD3 0 genome.wustl.edu 37 14 99865332 99865332 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 99865332 99865332 C T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known missense c.1469 p.R490H 0.082 superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 233 0 0 86 51 37.2263 DNM1P46 0 genome.wustl.edu 37 15 100331400 100331400 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 100331400 100331400 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors DNM1P46 HGNC ENSG00000182397 44 0 0 15 6 28.5714 LRRK1 0 genome.wustl.edu 37 15 101606847 101606847 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 101606847 101606847 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5771 p.R1924H 0.475 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 345 1 0.289017 110 40 26.6667 HERC2P3 0 genome.wustl.edu 37 15 20663149 20663149 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 20663149 20663149 G A SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 40 0 0 23 7 23.3333 HERC2P2 0 genome.wustl.edu 37 15 23335601 23335601 + RNA SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 23335601 23335601 A T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 45 0 0 36 5 12.1951 TJP1 0 genome.wustl.edu 37 15 30024733 30024733 + Splice_Site SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 30024733 30024733 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known splice_site c.1922-1 e15-1 1.000 - - - no_errors TJP1 HGNC ENSG00000104067 104 0 0 60 23 27.7108 TRPM1 0 genome.wustl.edu 37 15 31362235 31362235 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 31362235 31362235 A G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.329 p.M110T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 693 1 0.144092 269 105 28.0749 OTUD7A 0 genome.wustl.edu 37 15 31947326 31947326 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 31947326 31947326 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.124 p.P42S 1.000 superfamily_UBA-like pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 25 0 0 10 6 37.5 BUB1B 0 genome.wustl.edu 37 15 40494810 40494810 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 40494810 40494810 G A SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.1691 p.R564Q 0.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 269 0 0 95 46 32.6241 PLCB2 0 genome.wustl.edu 37 15 40581555 40581555 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 40581555 40581555 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.3272 p.T1091M 0.992 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 134 0 0 51 24 32 IVD 0 genome.wustl.edu 37 15 40699905 40699905 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 40699905 40699905 C T SNP IVD ENST00000487418 human ensembl 74_37 +1 known silent c.222 p.S74 0.110 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 153 0 0 64 20 23.8095 EXD1 0 genome.wustl.edu 37 15 41507974 41507974 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 41507974 41507974 G A SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.272 p.A91V 0.991 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 197 0 0 72 33 31.4286 ENSG00000258461 0 genome.wustl.edu 37 15 42694455 42694455 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 42694455 42694455 C T SNP ENSG00000258461 ENST00000483208 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-164J13.1 Clone_based_vega_gene ENSG00000258461 41 0 0 24 12 33.3333 TGM5 0 genome.wustl.edu 37 15 43531014 43531014 + Splice_Site SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 43531014 43531014 C A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known splice_site c.1345+1 e9+1 1.000 - - - no_errors TGM5 HGNC ENSG00000104055 25 0 0 16 3 15.7895 TGM5 0 genome.wustl.edu 37 15 43552730 43552730 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 43552730 43552730 G A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.58 p.R20W 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 201 0 0 50 20 28.5714 TGM7 0 genome.wustl.edu 37 15 43585153 43585153 + Splice_Site SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 43585153 43585153 C A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known splice_site c.194-1 e3-1 1.000 - - - no_errors TGM7 HGNC ENSG00000159495 299 0 0 101 58 36.478 ENSG00000260406 0 genome.wustl.edu 37 15 43594352 43594352 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 43594352 43594352 G A SNP ENSG00000260406 ENST00000564058 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-402F9.3 Clone_based_vega_gene ENSG00000260406 48 0 0 24 3 11.1111 STRC 0 genome.wustl.edu 37 15 43897020 43897020 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 43897020 43897020 C A SNP STRC ENST00000450892 human ensembl 74_37 -1 known missense c.3955 p.G1319W 0.869 NULL NULL - no_errors STRC HGNC ENSG00000242866 29 0 0 26 9 25.7143 C15orf43 0 genome.wustl.edu 37 15 45253731 45253731 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 45253731 45253731 A G SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known silent c.297 p.R99 1.000 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 71 0 0 24 14 36.8421 DUOXA2 0 genome.wustl.edu 37 15 45408763 45408763 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 45408763 45408763 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.390 p.F130 0.992 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 148 1 0.671141 53 12 18.4615 BLOC1S6 0 genome.wustl.edu 37 15 45898872 45898872 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 45898872 45898872 C T SNP BLOC1S6 ENST00000563160 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BLOC1S6 HGNC ENSG00000104164 26 0 0 10 9 47.3684 FBN1 0 genome.wustl.edu 37 15 48796031 48796031 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 48796031 48796031 T G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2066 p.E689A 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 140 0 0 41 17 29.3103 TRPM7 0 genome.wustl.edu 37 15 50905919 50905919 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 50905919 50905919 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.1755 p.Q585 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 30 0 0 11 8 42.1053 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 102 0 0 39 19 32.7586 UNC13C 0 genome.wustl.edu 37 15 54307549 54307549 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 54307549 54307549 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.2449 p.Q817* 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 97 0 0 36 11 23.4043 LDHAL6B 0 genome.wustl.edu 37 15 59499278 59499278 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 59499278 59499278 G A SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.139 p.V47M 0.002 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 97 0 0 55 18 24.6575 LDHAL6B 0 genome.wustl.edu 37 15 59499291 59499291 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 59499291 59499291 C T SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.152 p.A51V 0.837 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 105 0 0 55 22 28.5714 RORA 0 genome.wustl.edu 37 15 60803702 60803702 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 60803702 60803702 C T SNP RORA ENST00000261523 human ensembl 74_37 -1 known silent c.642 p.P214 0.996 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 142 0 0 64 33 34.0206 HERC1 0 genome.wustl.edu 37 15 64045263 64045263 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 64045263 64045263 G C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.1796 p.T599S 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 63 0 0 32 17 34.6939 PIAS1 0 genome.wustl.edu 37 15 68479948 68479948 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 68479948 68479948 G A SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.1731 p.S577 0.995 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 105 0 0 44 14 24.1379 THSD4 0 genome.wustl.edu 37 15 71535347 71535347 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 71535347 71535347 G C SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.824 p.G275A 0.001 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 122 0 0 39 18 31.5789 SNX33 0 genome.wustl.edu 37 15 75949395 75949395 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 75949395 75949395 G A SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.1564 p.V522M 0.991 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 85 0 0 56 23 29.1139 C15orf27 0 genome.wustl.edu 37 15 76496111 76496111 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 76496111 76496111 A G SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.1051 p.M351V 0.959 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 240 0 0 76 48 38.7097 LOC645752 0 genome.wustl.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 78212618 78212618 A G SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 66 0 0 52 6 10.3448 TMC3 0 genome.wustl.edu 37 15 81636343 81636343 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 81636343 81636343 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.1562 p.A521V 1.000 pfam_TMC pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 70 0 0 23 9 28.125 LOC283692 0 genome.wustl.edu 37 15 83360829 83360829 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 83360829 83360829 C A SNP LOC283692 ENST00000560650 human ensembl 74_37 +1 known rna NULL NULL 0.895 - - - no_errors RP11-752G15.3 Clone_based_vega_gene ENSG00000259462 81 0 0 30 15 33.3333 ALPK3 0 genome.wustl.edu 37 15 85382261 85382261 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 85382261 85382261 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.961 p.R321C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 32 0 0 10 5 33.3333 ALPK3 0 genome.wustl.edu 37 15 85405990 85405990 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 85405990 85405990 T C SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.4860 p.C1620 0.001 superfamily_Kinase-like_dom,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 54 0 0 23 13 36.1111 AKAP13 0 genome.wustl.edu 37 15 86227881 86227881 + RNA SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 86227881 86227881 T G SNP AKAP13 ENST00000558092 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors AKAP13 HGNC ENSG00000170776 24 0 0 13 6 31.5789 ZNF774 0 genome.wustl.edu 37 15 90904288 90904288 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 90904288 90904288 G T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known missense c.1225 p.G409W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 84 0 0 31 15 32.6087 CRTC3 0 genome.wustl.edu 37 15 91181743 91181743 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 91181743 91181743 G A SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known silent c.1332 p.P444 0.007 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 141 0 0 48 15 23.8095 CRTC3 0 genome.wustl.edu 37 15 91185178 91185178 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 91185178 91185178 A G SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known missense c.1666 p.S556G 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 194 0 0 45 13 22.4138 CHD2 0 genome.wustl.edu 37 15 93521592 93521592 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 93521592 93521592 T C SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative silent c.2706 p.H902 0.990 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 115 0 0 44 25 36.2319 ARRDC4 0 genome.wustl.edu 37 15 98512505 98512505 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 98512505 98512505 G A SNP ARRDC4 ENST00000268042 human ensembl 74_37 +1 known missense c.778 p.A260T 0.996 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 68 0 0 35 10 22.2222 SSTR5 0 genome.wustl.edu 37 16 1129867 1129867 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 1129867 1129867 G A SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.999 p.T333 0.000 prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 25 0 0 12 7 36.8421 KIAA0430 0 genome.wustl.edu 37 16 15704908 15704908 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 15704908 15704908 G A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.3675 p.I1225 0.001 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 131 0 0 74 27 26.7327 ABCC6 0 genome.wustl.edu 37 16 16244559 16244559 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 16244559 16244559 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.4279 p.E1427K 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 46 0 0 14 3 17.6471 XYLT1 0 genome.wustl.edu 37 16 17235115 17235115 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 17235115 17235115 G C SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.1482 p.D494E 0.940 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 255 0 0 120 8 6.25 SMG1 0 genome.wustl.edu 37 16 18887699 18887699 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 18887699 18887699 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.1637 p.H546R 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 25 0 0 27 3 10 DNAH3 0 genome.wustl.edu 37 16 20990771 20990771 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 20990771 20990771 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7957 p.S2653P 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 120 0 0 38 29 43.2836 HS3ST2 0 genome.wustl.edu 37 16 22926453 22926453 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 22926453 22926453 T A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.674 p.I225N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 193 0 0 81 34 29.5652 AMDHD2 0 genome.wustl.edu 37 16 2570787 2570787 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 2570787 2570787 G T SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known missense c.101 p.R34L 0.997 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 26 0 0 20 6 23.0769 SRRM2 0 genome.wustl.edu 37 16 2818141 2818141 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 2818141 2818141 T C SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.7612 p.S2538P 0.022 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 48 0 0 31 4 11.4286 APOBR 0 genome.wustl.edu 37 16 28507606 28507606 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 28507606 28507606 A G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1244 p.E415G 0.156 NULL NULL - no_errors APOBR HGNC ENSG00000184730 65 0 0 20 6 23.0769 LOC101928215 0 genome.wustl.edu 37 16 29115615 29115615 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 29115615 29115615 A G SNP LOC101928215 ENST00000562618 human ensembl 74_37 -1 known rna NULL NULL 0.345 - - - no_errors CTB-134H23.3 Clone_based_vega_gene ENSG00000260908 14 0 0 8 12 60 SNX29P2 0 genome.wustl.edu 37 16 29323800 29323800 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 29323800 29323800 C T SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX29P2 HGNC ENSG00000198106 18 0 0 9 7 43.75 SPN 0 genome.wustl.edu 37 16 29675887 29675887 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 29675887 29675887 C T SNP SPN ENST00000360121 human ensembl 74_37 +1 known missense c.838 p.R280W 0.003 NULL NULL - no_errors SPN HGNC ENSG00000197471 33 0 0 15 12 44.4444 PKMYT1 0 genome.wustl.edu 37 16 3024375 3024375 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3024375 3024375 C T SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known silent c.1023 p.E341 0.981 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 25 0 0 14 3 17.6471 ZNF629 0 genome.wustl.edu 37 16 30794413 30794413 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 30794413 30794413 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.1236 p.S412 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 80 0 0 36 12 25 SETD1A 0 genome.wustl.edu 37 16 30976311 30976311 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 30976311 30976311 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.1248 p.E416 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 165 0 0 65 26 28.5714 HSD3B7 0 genome.wustl.edu 37 16 30998198 30998198 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 30998198 30998198 G A SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.569 p.R190H 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 95 0 0 34 8 19.0476 ZNF668 0 genome.wustl.edu 37 16 31072541 31072541 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 31072541 31072541 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.1777 p.R593C 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 178 0 0 64 8 11.1111 ZNF646 0 genome.wustl.edu 37 16 31088810 31088810 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 31088810 31088810 C A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1165 p.L389I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 29 0 0 15 9 37.5 ITGAX 0 genome.wustl.edu 37 16 31373508 31373508 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 31373508 31373508 T C SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1199 p.M400T 0.998 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 182 0 0 62 32 34.0426 RGS11 0 genome.wustl.edu 37 16 320824 320824 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 320824 320824 T G SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.986 p.N329T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 31 0 0 11 3 21.4286 OR1F1 0 genome.wustl.edu 37 16 3254534 3254534 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3254534 3254534 C T SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known silent c.288 p.G96 0.437 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 283 0 0 112 52 31.7073 SLC6A10P 0 genome.wustl.edu 37 16 32893940 32893940 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 32893940 32893940 G A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors SLC6A10P HGNC ENSG00000214617 415 0 0 154 25 13.9665 TMEM8A 0 genome.wustl.edu 37 16 424064 424064 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 424064 424064 C A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.1843 p.G615W 0.980 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 55 0 0 13 9 40.9091 NETO2 0 genome.wustl.edu 37 16 47162394 47162394 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 47162394 47162394 C T SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.323 p.R108Q 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 352 2 0.564972 134 60 30.9278 PHKB 0 genome.wustl.edu 37 16 47533705 47533705 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 47533705 47533705 G A SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.205 p.G69S 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 187 0 0 106 6 5.35714 CBLN1 0 genome.wustl.edu 37 16 49315156 49315156 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 49315156 49315156 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.221 p.P74L 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 109 0 0 34 18 34.6154 PAPD5 0 genome.wustl.edu 37 16 50263343 50263343 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 50263343 50263343 C T SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors PAPD5 HGNC ENSG00000121274 21 0 0 11 8 42.1053 BRD7 0 genome.wustl.edu 37 16 50357600 50357600 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 50357600 50357600 C T SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known silent c.1341 p.E447 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 61 0 0 32 11 25.5814 CYLD 0 genome.wustl.edu 37 16 50813911 50813911 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 50813911 50813911 G A SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.1474 p.G492S 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 112 0 0 49 13 20.9677 FAM86A 0 genome.wustl.edu 37 16 5141836 5141836 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 5141836 5141836 T C SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known missense c.301 p.M101V 0.006 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 82 0 0 30 12 28.5714 RBL2 0 genome.wustl.edu 37 16 53493431 53493431 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 53493431 53493431 G A SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known silent c.1248 p.V416 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 70 0 0 20 11 35.4839 RPGRIP1L 0 genome.wustl.edu 37 16 53683005 53683005 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 53683005 53683005 A T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2175 p.N725K 0.422 pfam_DUF3250 pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 130 0 0 53 30 36.1446 SLC12A3 0 genome.wustl.edu 37 16 56912999 56912999 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 56912999 56912999 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.1195 p.R399C 0.871 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 21 0 0 10 5 33.3333 NLRC5 0 genome.wustl.edu 37 16 57110758 57110758 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 57110758 57110758 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known silent c.4779 p.V1593 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 129 0 0 37 13 26 POLR2C 0 genome.wustl.edu 37 16 57503194 57503194 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 57503194 57503194 C T SNP POLR2C ENST00000219252 human ensembl 74_37 +1 known missense c.376 p.R126W 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 73 0 0 30 17 36.1702 CNGB1 0 genome.wustl.edu 37 16 57996884 57996884 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 57996884 57996884 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known silent c.375 p.P125 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 79 0 0 33 15 31.25 MMP15 0 genome.wustl.edu 37 16 58075662 58075662 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 58075662 58075662 G C SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.1052 p.G351A 0.983 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 18 0 0 10 5 33.3333 PRSS54 0 genome.wustl.edu 37 16 58314324 58314324 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 58314324 58314324 T C SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.992 p.D331G 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 118 0 0 47 33 41.25 CNOT1 0 genome.wustl.edu 37 16 58608623 58608623 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 58608623 58608623 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.1869 p.R623 0.998 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 95 0 0 60 4 6.25 PIGQ 0 genome.wustl.edu 37 16 628430 628430 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 628430 628430 G A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.994 p.A332T 0.999 pfam_GlcNAc_Gpi1 pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 61 0 0 28 9 24.3243 SLC12A4 0 genome.wustl.edu 37 16 67980239 67980239 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 67980239 67980239 G T SNP SLC12A4 ENST00000338335 human ensembl 74_37 -1 known missense c.2246 p.P749Q 0.867 NULL pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,prints_K/Cl_cotranspt1 - no_errors SLC12A4 HGNC ENSG00000124067 90 0 0 42 24 36.3636 WWP2 0 genome.wustl.edu 37 16 69963383 69963383 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 69963383 69963383 G A SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1267 p.V423M 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 105 0 0 23 12 34.2857 ZFHX3 0 genome.wustl.edu 37 16 72822729 72822729 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 72822729 72822729 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.9446 p.P3149L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 225 0 0 64 31 32.6316 ZFHX3 0 genome.wustl.edu 37 16 72991721 72991721 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 72991721 72991721 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.2324 p.A775V 0.973 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 106 0 0 49 19 27.9412 CHST6 0 genome.wustl.edu 37 16 75512632 75512632 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 75512632 75512632 G A SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known silent c.1095 p.D365 0.003 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 118 1 0.840336 29 9 23.6842 CDYL2 0 genome.wustl.edu 37 16 80667008 80667008 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 80667008 80667008 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 168 0 0 58 26 30.9524 CDYL2 0 genome.wustl.edu 37 16 80718567 80718567 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 80718567 80718567 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.484 p.G162S 0.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 160 1 0.621118 59 26 30.5882 ZFPM1 0 genome.wustl.edu 37 16 88598420 88598420 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 88598420 88598420 C T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known silent c.723 p.F241 0.999 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 125 0 0 41 16 28.0702 ZFPM1 0 genome.wustl.edu 37 16 88599306 88599306 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 88599306 88599306 G A SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known silent c.1152 p.S384 0.012 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 75 0 0 43 17 28.3333 ZNF778 0 genome.wustl.edu 37 16 89293501 89293501 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 89293501 89293501 G A SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known missense c.721 p.A241T 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 ZNF778 HGNC ENSG00000170100 186 0 0 64 26 28.8889 ZNF778 0 genome.wustl.edu 37 16 89294007 89294007 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 89294007 89294007 T C SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.1227 p.T409 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 130 0 0 55 25 31.25 MC1R 0 genome.wustl.edu 37 16 89985930 89985930 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 89985930 89985930 C T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known silent c.264 p.S88 0.017 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 97 0 0 29 12 29.2683 GAS7 0 genome.wustl.edu 37 17 10101644 10101644 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 10101644 10101644 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.64 p.R22C 0.994 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 43 0 0 15 8 34.7826 MYH2 0 genome.wustl.edu 37 17 10441138 10441138 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 10441138 10441138 C A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.1431 p.E477D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 203 0 0 70 47 40.1709 ZNF18 0 genome.wustl.edu 37 17 11886718 11886718 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 11886718 11886718 A G SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known missense c.758 p.I253T 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 104 0 0 36 21 36.8421 MYO1C 0 genome.wustl.edu 37 17 1387489 1387489 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 1387489 1387489 C T SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.184 p.A62T 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 53 0 0 19 5 20.8333 TEKT3 0 genome.wustl.edu 37 17 15212064 15212064 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 15212064 15212064 G A SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known silent c.1173 p.A391 0.989 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 135 0 0 60 21 25.9259 ZNF286A 0 genome.wustl.edu 37 17 15620464 15620464 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 15620464 15620464 A G SNP ZNF286A ENST00000413242 human ensembl 74_37 +1 known missense c.1426 p.I476V 0.972 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 ZNF286A HGNC ENSG00000255104 61 0 0 25 9 26.4706 WDR81 0 genome.wustl.edu 37 17 1636825 1636825 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 1636825 1636825 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known silent c.4494 p.D1498 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 283 0 0 92 41 30.8271 ZNF624 0 genome.wustl.edu 37 17 16526577 16526577 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 16526577 16526577 T C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known silent c.1623 p.S541 0.852 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 ZNF624 HGNC ENSG00000197566 137 0 0 76 25 24.7525 KRT17P1 0 genome.wustl.edu 37 17 16748802 16748802 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 16748802 16748802 C T SNP KRT17P1 ENST00000580363 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT17P1 HGNC ENSG00000131885 27 0 0 31 8 20.5128 RPH3AL 0 genome.wustl.edu 37 17 171135 171135 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 171135 171135 G A SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known missense c.149 p.A50V 0.001 pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 123 0 0 36 12 25 ATPAF2 0 genome.wustl.edu 37 17 17931621 17931621 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 17931621 17931621 G A SNP ATPAF2 ENST00000474627 human ensembl 74_37 -1 known silent c.249 p.S83 0.350 pfam_ATP12_ATPase-F1F0-assembly pfam_ATP12_ATPase-F1F0-assembly - no_errors ATPAF2 HGNC ENSG00000171953 66 0 0 41 15 26.7857 ALKBH5 0 genome.wustl.edu 37 17 18111551 18111551 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 18111551 18111551 G T SNP ALKBH5 ENST00000399138 human ensembl 74_37 +1 known missense c.1026 p.M342I 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 163 0 0 62 36 36.7347 TMEM11 0 genome.wustl.edu 37 17 21101693 21101693 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 21101693 21101693 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.523 p.A175T 1.000 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 225 0 0 118 7 5.6 SGSM2 0 genome.wustl.edu 37 17 2266394 2266394 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 2266394 2266394 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.638 p.R213H 0.988 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 23 0 0 13 14 51.8519 TNFAIP1 0 genome.wustl.edu 37 17 26666694 26666694 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 26666694 26666694 C T SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known silent c.147 p.H49 0.823 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 157 1 0.632911 45 29 39.1892 TLCD1 0 genome.wustl.edu 37 17 27052964 27052964 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 27052964 27052964 G C SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.152 p.S51C 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 46 0 0 19 7 26.9231 TLCD1 0 genome.wustl.edu 37 17 27053070 27053070 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 27053070 27053070 T C SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.46 p.T16A 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 9 0 0 5 3 37.5 MYO18A 0 genome.wustl.edu 37 17 27446421 27446421 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 27446421 27446421 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.1761 p.R587 0.914 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_RecA_monomer-monomer_interface pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 43 0 0 10 5 33.3333 ZNF207 0 genome.wustl.edu 37 17 30687715 30687715 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 30687715 30687715 C T SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known nonsense c.406 p.Q136* 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 77 0 0 33 8 19.5122 GAS2L2 0 genome.wustl.edu 37 17 34074249 34074249 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 34074249 34074249 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.871 p.P291T 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 318 1 0.31348 118 33 21.8543 GAS2L2 0 genome.wustl.edu 37 17 34079505 34079505 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 34079505 34079505 C T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.365 p.R122Q 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 292 0 0 88 44 33.3333 PCGF2 0 genome.wustl.edu 37 17 36891730 36891730 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 36891730 36891730 C T SNP PCGF2 ENST00000360797 human ensembl 74_37 -1 known missense c.781 p.D261N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 13 0 0 4 4 50 STARD3 0 genome.wustl.edu 37 17 37809936 37809936 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 37809936 37809936 G A SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.152 p.R51H 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 106 0 0 33 12 26.6667 MED24 0 genome.wustl.edu 37 17 38175815 38175815 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 38175815 38175815 G A SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.2937 p.R979 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 105 0 0 53 20 27.3973 MED24 0 genome.wustl.edu 37 17 38176148 38176148 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 38176148 38176148 G A SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.2743 p.R915C 0.839 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 13 0 0 8 4 33.3333 KRT27 0 genome.wustl.edu 37 17 38936017 38936017 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 38936017 38936017 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known nonsense c.781 p.R261* 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 82 0 0 35 16 31.3725 KRT39 0 genome.wustl.edu 37 17 39115014 39115014 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 39115014 39115014 A C SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.1315 p.S439A 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 108 0 0 43 23 34.8485 ZZEF1 0 genome.wustl.edu 37 17 3967836 3967836 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 3967836 3967836 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4537 p.A1513T 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 107 0 0 48 17 26.1538 KRT9 0 genome.wustl.edu 37 17 39728024 39728024 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 39728024 39728024 C T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.221 p.G74D 0.006 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 52 0 0 10 8 44.4444 KRT16 0 genome.wustl.edu 37 17 39767948 39767948 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 39767948 39767948 G A SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.557 p.A186V 0.649 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 39 0 0 16 6 27.2727 AOC4P 0 genome.wustl.edu 37 17 41026210 41026210 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 41026210 41026210 C T SNP AOC4P ENST00000570207 human ensembl 74_37 +1 known rna NULL NULL 0.839 - - - no_errors AOC4P HGNC ENSG00000260105 159 0 0 70 27 27.8351 DHX8 0 genome.wustl.edu 37 17 41577385 41577385 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 41577385 41577385 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.1460 p.R487Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 445 1 0.224215 145 77 34.6847 GRN 0 genome.wustl.edu 37 17 42430031 42430031 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 42430031 42430031 C T SNP GRN ENST00000053867 human ensembl 74_37 +1 known silent c.1647 p.G549 0.000 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 160 0 0 41 21 33.871 CRHR1 0 genome.wustl.edu 37 17 43911993 43911993 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 43911993 43911993 C T SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.1198 p.R400C 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 50 0 0 21 8 27.5862 MAPT 0 genome.wustl.edu 37 17 44073996 44073996 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 44073996 44073996 C A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.1793 p.T598N 0.994 pfam_MAP_tubulin-bd_rpt pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 73 0 0 21 4 16 ITGB3 0 genome.wustl.edu 37 17 45369787 45369787 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 45369787 45369787 C T SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.1543 p.R515W 0.705 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 159 0 0 59 5 7.8125 PELP1 0 genome.wustl.edu 37 17 4607430 4607430 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 4607430 4607430 C T SNP PELP1 ENST00000572293 human ensembl 74_37 -1 putative missense c.127 p.A43T 1.000 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 31 0 0 7 3 30 HOXB1 0 genome.wustl.edu 37 17 46608130 46608130 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 46608130 46608130 C T SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.137 p.G46D 0.675 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 129 0 0 39 25 39.0625 VMO1 0 genome.wustl.edu 37 17 4688833 4688833 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 4688833 4688833 G A SNP VMO1 ENST00000328739 human ensembl 74_37 -1 known missense c.433 p.R145C 1.000 pfam_VOMI,superfamily_VOMI pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 111 0 0 27 19 41.3043 PLD2 0 genome.wustl.edu 37 17 4718006 4718006 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 4718006 4718006 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known silent c.1173 p.A391 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 57 0 0 16 4 20 COL1A1 0 genome.wustl.edu 37 17 48275526 48275526 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 48275526 48275526 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.584 p.A195V 0.979 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 159 0 0 44 22 33.3333 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 64 0 0 12 12 50 SPATA20 0 genome.wustl.edu 37 17 48632978 48632978 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 48632978 48632978 G A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.2364 p.V788 0.992 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 85 0 0 36 10 21.7391 USP6 0 genome.wustl.edu 37 17 5036240 5036240 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 5036240 5036240 G C SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.231 p.W77C 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 312 0 0 116 28 19.4444 ZNF594 0 genome.wustl.edu 37 17 5087271 5087271 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 5087271 5087271 G A SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.281 p.A94V 0.019 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 110 0 0 57 24 29.6296 NUP88 0 genome.wustl.edu 37 17 5290124 5290124 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 5290124 5290124 T C SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.2066 p.Q689R 0.985 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 148 0 0 78 5 6.0241 LPO 0 genome.wustl.edu 37 17 56344879 56344879 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 56344879 56344879 G T SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.1863 p.R621S 0.015 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 83 0 0 16 11 40.7407 SEPT4 0 genome.wustl.edu 37 17 56604333 56604333 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 56604333 56604333 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.112 p.R38C 0.999 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 126 0 0 31 24 43.6364 VMP1 0 genome.wustl.edu 37 17 57808851 57808851 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 57808851 57808851 T C SNP VMP1 ENST00000262291 human ensembl 74_37 +1 known missense c.44 p.M15T 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 101 0 0 31 8 20.5128 TUBD1 0 genome.wustl.edu 37 17 57944024 57944024 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 57944024 57944024 A G SNP TUBD1 ENST00000325752 human ensembl 74_37 -1 known missense c.1021 p.S341P 1.000 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 109 0 0 30 13 30.2326 MRC2 0 genome.wustl.edu 37 17 60767425 60767425 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 60767425 60767425 T C SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known splice_site c.3742+2 e25+2 1.000 - - - no_errors MRC2 HGNC ENSG00000011028 68 0 0 14 6 30 MARCH10 0 genome.wustl.edu 37 17 60813653 60813653 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 60813653 60813653 C T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.1576 p.E526K 0.087 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 164 0 0 75 38 33.6283 ACE 0 genome.wustl.edu 37 17 61570796 61570796 + Splice_Site SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 61570796 61570796 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known splice_site c.2913-1 e20-1 1.000 - - - no_errors ACE HGNC ENSG00000159640 118 0 0 45 15 25 SMARCD2 0 genome.wustl.edu 37 17 61912828 61912828 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 61912828 61912828 C T SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.667 p.A223T 0.971 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 97 0 0 29 19 39.5833 TEX2 0 genome.wustl.edu 37 17 62291159 62291159 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 62291159 62291159 G A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.419 p.S140L 0.005 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 182 0 0 78 33 29.7297 AXIN2 0 genome.wustl.edu 37 17 63545650 63545650 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 63545650 63545650 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.944 p.T315M 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 35 0 0 16 4 20 PITPNM3 0 genome.wustl.edu 37 17 6371625 6371625 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 6371625 6371625 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1810 p.A604T 0.051 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 129 0 0 42 13 23.6364 CACNG5 0 genome.wustl.edu 37 17 64880684 64880684 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 64880684 64880684 A C SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.476 p.E159A 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 91 0 0 44 22 33.3333 NOL11 0 genome.wustl.edu 37 17 65720242 65720242 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 65720242 65720242 C T SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known silent c.597 p.D199 0.998 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 50 0 0 27 18 40 RNMTL1 0 genome.wustl.edu 37 17 695114 695114 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 695114 695114 C A SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known silent c.1068 p.G356 0.238 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 137 0 0 53 22 29.3333 PHF23 0 genome.wustl.edu 37 17 7139475 7139475 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7139475 7139475 T C SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known silent c.771 p.E257 0.033 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 151 0 0 80 44 35.4839 CD300C 0 genome.wustl.edu 37 17 72540750 72540750 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 72540750 72540750 G A SNP CD300C ENST00000330793 human ensembl 74_37 -1 known missense c.398 p.P133L 0.999 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 93 0 0 37 11 22.9167 GGA3 0 genome.wustl.edu 37 17 73235069 73235069 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 73235069 73235069 C G SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1876 p.V626L 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 94 0 0 34 14 29.1667 GGA3 0 genome.wustl.edu 37 17 73236985 73236985 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 73236985 73236985 C T SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1100 p.R367Q 0.937 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 60 0 0 26 17 39.5349 EXOC7 0 genome.wustl.edu 37 17 74084972 74084972 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74084972 74084972 C A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.1233 p.E411D 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 89 0 0 25 25 50 FOXJ1 0 genome.wustl.edu 37 17 74134113 74134113 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74134113 74134113 C T SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known missense c.587 p.R196H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 40 0 0 22 10 31.25 SENP3 0 genome.wustl.edu 37 17 7466636 7466636 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7466636 7466636 G A SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known silent c.243 p.E81 0.992 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 8 0 0 1 3 75 MGAT5B 0 genome.wustl.edu 37 17 74902116 74902116 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74902116 74902116 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.905 p.G302D 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 129 0 0 43 12 21.8182 MGAT5B 0 genome.wustl.edu 37 17 74942514 74942514 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74942514 74942514 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.1932 p.H644 0.953 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 56 0 0 12 5 29.4118 ATP1B2 0 genome.wustl.edu 37 17 7559161 7559161 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7559161 7559161 G A SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.821 p.R274Q 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 100 0 0 45 14 23.7288 WRAP53 0 genome.wustl.edu 37 17 7606723 7606723 + Silent SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7606723 7606723 G C SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known silent c.1566 p.A522 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 110 0 0 27 18 40 TMC6 0 genome.wustl.edu 37 17 76117721 76117721 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76117721 76117721 C T SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known silent c.1299 p.V433 0.003 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 42 0 0 7 3 30 USP36 0 genome.wustl.edu 37 17 76825015 76825015 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76825015 76825015 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.550 p.A184T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 87 0 0 21 8 27.5862 ENGASE 0 genome.wustl.edu 37 17 77075659 77075659 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 77075659 77075659 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.505 p.V169I 0.988 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 218 0 0 98 34 25.7576 RNF213 0 genome.wustl.edu 37 17 78320825 78320825 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 78320825 78320825 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.8690 p.G2897D 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 56 0 0 20 10 33.3333 TRAPPC1 0 genome.wustl.edu 37 17 7834015 7834015 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7834015 7834015 G A SNP TRAPPC1 ENST00000303731 human ensembl 74_37 -1 known missense c.347 p.P116L 0.060 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 75 0 0 31 15 32.6087 RNF213 0 genome.wustl.edu 37 17 78346918 78346918 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 78346918 78346918 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12895 p.G4299S 0.096 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 65 0 0 23 14 37.8378 ALOXE3 0 genome.wustl.edu 37 17 8013440 8013440 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 8013440 8013440 G T SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known silent c.1671 p.R557 0.902 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 35 0 0 23 4 14.8148 RAB40B 0 genome.wustl.edu 37 17 80616484 80616484 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 80616484 80616484 C T SNP RAB40B ENST00000571995 human ensembl 74_37 -1 known missense c.448 p.V150M 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 108 0 0 32 20 38.4615 TBCD 0 genome.wustl.edu 37 17 80885144 80885144 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 80885144 80885144 C A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.2554 p.L852M 0.223 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 42 0 0 25 6 19.3548 RNMT 0 genome.wustl.edu 37 18 13731813 13731813 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 13731813 13731813 A C SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.297 p.E99D 0.399 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 141 0 0 57 27 32.1429 ZNF519 0 genome.wustl.edu 37 18 14105975 14105975 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 14105975 14105975 T C SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known silent c.564 p.K188 0.184 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 ZNF519 HGNC ENSG00000175322 51 0 0 28 15 34.8837 CXADRP3 0 genome.wustl.edu 37 18 14478622 14478622 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 14478622 14478622 T C SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.407 - - - no_errors CXADRP3 HGNC ENSG00000265766 21 0 0 16 6 27.2727 CTAGE1 0 genome.wustl.edu 37 18 19995559 19995559 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 19995559 19995559 A G SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.2216 p.F739S 0.000 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 53 0 0 27 14 34.1463 IMPACT 0 genome.wustl.edu 37 18 22008870 22008870 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 22008870 22008870 C A SNP IMPACT ENST00000284202 human ensembl 74_37 +1 known missense c.203 p.P68H 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 62 0 0 21 5 19.2308 ZNF521 0 genome.wustl.edu 37 18 22804319 22804319 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 22804319 22804319 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3563 p.Q1188R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 122 0 0 51 28 35.443 KLHL14 0 genome.wustl.edu 37 18 30257165 30257165 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 30257165 30257165 A G SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.1717 p.Y573H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 277 0 0 100 29 22.4806 SLC39A6 0 genome.wustl.edu 37 18 33694127 33694127 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 33694127 33694127 G A SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known silent c.1776 p.V592 0.866 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 109 0 0 40 13 24.5283 FHOD3 0 genome.wustl.edu 37 18 34349297 34349297 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 34349297 34349297 T A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4145 p.I1382N 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 116 0 0 43 12 21.8182 PIK3C3 0 genome.wustl.edu 37 18 39637886 39637886 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 39637886 39637886 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.2303 p.R768Q 0.999 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 93 0 0 42 19 31.1475 SLC14A2 0 genome.wustl.edu 37 18 43207012 43207012 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 43207012 43207012 A G SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.421 p.I141V 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 189 0 0 59 37 38.5417 CCDC11 0 genome.wustl.edu 37 18 47777861 47777861 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 47777861 47777861 G A SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.767 p.A256V 0.881 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 106 0 0 68 26 27.6596 EPB41L3 0 genome.wustl.edu 37 18 5415928 5415928 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 5415928 5415928 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.1956 p.Y652 0.916 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 118 0 0 44 14 24.1379 NEDD4L 0 genome.wustl.edu 37 18 56008369 56008369 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 56008369 56008369 C T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known nonsense c.1225 p.R409* 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 39 0 0 9 5 35.7143 TMEM200C 0 genome.wustl.edu 37 18 5891837 5891837 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 5891837 5891837 G T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.226 p.P76T 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 55 0 0 12 11 47.8261 CDH20 0 genome.wustl.edu 37 18 59158026 59158026 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 59158026 59158026 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known silent c.240 p.V80 0.344 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 162 0 0 67 17 20.2381 RTTN 0 genome.wustl.edu 37 18 67869182 67869182 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 67869182 67869182 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.435 p.F145 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 58 0 0 21 9 30 LAMA1 0 genome.wustl.edu 37 18 7037643 7037643 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 7037643 7037643 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.1671 p.T557 0.001 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 105 0 0 39 18 31.5789 NETO1 0 genome.wustl.edu 37 18 70417577 70417577 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 70417577 70417577 G A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1261 p.R421W 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 66 0 0 39 17 30.3571 CNDP2 0 genome.wustl.edu 37 18 72185805 72185805 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 72185805 72185805 C T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known silent c.1140 p.H380 0.654 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 172 0 0 52 25 32.4675 SALL3 0 genome.wustl.edu 37 18 76753717 76753717 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 76753717 76753717 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1726 p.G576S 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 25 0 0 16 7 30.4348 ATP9B 0 genome.wustl.edu 37 18 77090075 77090075 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 77090075 77090075 G A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.1999 p.V667M 1.000 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 106 0 0 34 12 26.087 ADNP2 0 genome.wustl.edu 37 18 77895658 77895658 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 77895658 77895658 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.2362 p.H788Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 198 0 0 115 9 7.25806 COL5A3 0 genome.wustl.edu 37 19 10077289 10077289 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 10077289 10077289 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.4592 p.R1531Q 0.142 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 8 0 0 2 5 71.4286 ENSG00000267650 0 genome.wustl.edu 37 19 10107025 10107025 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 10107025 10107025 C T SNP ENSG00000267650 ENST00000592332 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTD-2553C6.1 Clone_based_vega_gene ENSG00000267650 21 0 0 15 5 25 CDC37 0 genome.wustl.edu 37 19 10504054 10504054 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 10504054 10504054 G A SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known missense c.790 p.R264W 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 138 0 0 38 16 29.6296 ABCA7 0 genome.wustl.edu 37 19 1056183 1056183 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1056183 1056183 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.4357 p.R1453C 0.372 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 58 0 0 22 14 38.8889 SMARCA4 0 genome.wustl.edu 37 19 11169473 11169473 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11169473 11169473 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.4639 p.R1547C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 83 0 0 29 6 17.1429 LDLR 0 genome.wustl.edu 37 19 11213391 11213391 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11213391 11213391 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.242 p.R81H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,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 LDLR HGNC ENSG00000130164 236 0 0 98 31 24.031 RAB3D 0 genome.wustl.edu 37 19 11447929 11447929 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11447929 11447929 G A SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known silent c.147 p.P49 0.337 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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_Gtr1_RagA,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 RAB3D HGNC ENSG00000105514 489 0 0 197 14 6.63507 CNN1 0 genome.wustl.edu 37 19 11660584 11660584 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11660584 11660584 G A SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known missense c.868 p.A290T 0.009 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN1 HGNC ENSG00000130176 146 0 0 78 6 7.14286 ZNF844 0 genome.wustl.edu 37 19 12187210 12187210 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 12187210 12187210 A G SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known silent c.1275 p.V425 0.970 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 89 0 0 69 6 8 MIDN 0 genome.wustl.edu 37 19 1257111 1257111 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1257111 1257111 A G SNP MIDN ENST00000300952 human ensembl 74_37 +1 known missense c.1247 p.Y416C 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 57 0 0 25 12 32.4324 FBXW9 0 genome.wustl.edu 37 19 12805508 12805508 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 12805508 12805508 C T SNP FBXW9 ENST00000380339 human ensembl 74_37 -1 known missense c.578 p.R193Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 79 0 0 37 16 30.1887 HOOK2 0 genome.wustl.edu 37 19 12882099 12882099 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 12882099 12882099 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.635 p.A212V 0.122 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 15 0 0 7 3 30 EFNA2 0 genome.wustl.edu 37 19 1299833 1299833 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1299833 1299833 G A SNP EFNA2 ENST00000215368 human ensembl 74_37 +1 known silent c.531 p.L177 1.000 superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA2 HGNC ENSG00000099617 22 0 0 3 5 62.5 CACNA1A 0 genome.wustl.edu 37 19 13368350 13368350 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 13368350 13368350 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.4404 p.S1468 0.135 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 9 0 0 14 3 17.6471 CACNA1A 0 genome.wustl.edu 37 19 13565925 13565925 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 13565925 13565925 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.395 p.R132Q 0.933 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 228 0 0 56 38 40.4255 MUM1 0 genome.wustl.edu 37 19 1376668 1376668 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1376668 1376668 C T SNP MUM1 ENST00000586067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MUM1 HGNC ENSG00000160953 26 0 0 20 10 33.3333 ZSWIM4 0 genome.wustl.edu 37 19 13941742 13941742 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 13941742 13941742 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.2848 p.R950W 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 99 0 0 36 21 36.8421 C19orf57 0 genome.wustl.edu 37 19 14000612 14000612 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14000612 14000612 C T SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.1057 p.A353T 0.001 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 80 0 0 25 12 32.4324 LPHN1 0 genome.wustl.edu 37 19 14269241 14269241 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14269241 14269241 A C SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.2288 p.V763G 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 78 0 0 38 17 30.9091 CD97 0 genome.wustl.edu 37 19 14507207 14507207 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14507207 14507207 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.400 p.V134I 0.001 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 167 0 0 72 18 20 OR7C1 0 genome.wustl.edu 37 19 14910543 14910543 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14910543 14910543 T C SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.406 p.M136V 0.965 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 156 0 0 83 29 25.8929 CYP4F22 0 genome.wustl.edu 37 19 15636167 15636167 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 15636167 15636167 G A SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.20 p.R7H 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 44 0 0 13 12 48 MBD3 0 genome.wustl.edu 37 19 1581146 1581146 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1581146 1581146 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.622 p.L208F 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 60 0 0 13 9 40.9091 CYP4F11 0 genome.wustl.edu 37 19 16045144 16045144 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 16045144 16045144 A G SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known silent c.75 p.V25 0.001 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 110 0 0 20 15 42.8571 TCF3 0 genome.wustl.edu 37 19 1612308 1612308 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1612308 1612308 G A SNP TCF3 ENST00000344749 human ensembl 74_37 -1 known missense c.1711 p.R571C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 107 0 0 36 16 30.7692 USHBP1 0 genome.wustl.edu 37 19 17373608 17373608 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 17373608 17373608 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.395 p.A132V 0.004 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 128 0 0 44 30 40.5405 SLC27A1 0 genome.wustl.edu 37 19 17612144 17612144 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 17612144 17612144 G A SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known missense c.1699 p.A567T 0.139 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 66 0 0 38 10 20.8333 UNC13A 0 genome.wustl.edu 37 19 17743609 17743609 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 17743609 17743609 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3674 p.R1225H 0.940 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 110 0 0 31 18 36.7347 MAP1S 0 genome.wustl.edu 37 19 17845108 17845108 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 17845108 17845108 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known silent c.3051 p.S1017 0.002 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 47 0 0 21 5 19.2308 ENSG00000268032 0 genome.wustl.edu 37 19 18142008 18142008 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 18142008 18142008 C T SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 98 0 0 48 13 21.3115 PDE4C 0 genome.wustl.edu 37 19 18327613 18327613 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 18327613 18327613 C A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.1423 p.D475Y 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 174 0 0 55 18 24.6575 CRLF1 0 genome.wustl.edu 37 19 18709685 18709685 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 18709685 18709685 T C SNP CRLF1 ENST00000392386 human ensembl 74_37 -1 known missense c.424 p.S142G 1.000 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 126 0 0 44 17 27.8689 TM6SF2 0 genome.wustl.edu 37 19 19381886 19381886 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 19381886 19381886 G A SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known silent c.144 p.F48 0.001 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 189 0 0 62 15 19.4805 PBX4 0 genome.wustl.edu 37 19 19675819 19675819 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 19675819 19675819 G A SNP PBX4 ENST00000251203 human ensembl 74_37 -1 known missense c.848 p.T283M 0.198 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX4 HGNC ENSG00000105717 438 0 0 153 66 30.137 GMIP 0 genome.wustl.edu 37 19 19749285 19749285 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 19749285 19749285 C T SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.544 p.A182T 0.576 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 46 0 0 18 4 18.1818 IZUMO4 0 genome.wustl.edu 37 19 2099002 2099002 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 2099002 2099002 T C SNP IZUMO4 ENST00000395301 human ensembl 74_37 +1 known silent c.582 p.P194 0.001 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 199 0 0 80 22 21.5686 ZNF708 0 genome.wustl.edu 37 19 21493361 21493361 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 21493361 21493361 T C SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known silent c.72 p.A24 0.029 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF708 HGNC ENSG00000182141 219 0 0 76 33 30.2752 ZNF728 0 genome.wustl.edu 37 19 23159500 23159500 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 23159500 23159500 G T SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.639 p.S213 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 ZNF728 HGNC ENSG00000269067 62 0 0 36 12 25 ZNF507 0 genome.wustl.edu 37 19 32845552 32845552 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 32845552 32845552 G A SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.1816 p.D606N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 67 0 0 72 6 7.69231 RHPN2 0 genome.wustl.edu 37 19 33482773 33482773 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 33482773 33482773 C T SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.1600 p.A534T 0.052 superfamily_PDZ,smart_PDZ pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 100 0 0 53 5 8.62069 CHST8 0 genome.wustl.edu 37 19 34263827 34263827 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 34263827 34263827 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.1134 p.S378 0.378 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 59 0 0 31 13 29.5455 PDCD2L 0 genome.wustl.edu 37 19 34916951 34916951 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 34916951 34916951 C T SNP PDCD2L ENST00000246535 human ensembl 74_37 +1 known missense c.1003 p.P335S 0.997 pfam_PDCD2_C pfam_PDCD2_C - no_errors PDCD2L HGNC ENSG00000126249 115 0 0 41 11 21.1538 FAM187B 0 genome.wustl.edu 37 19 35719208 35719208 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 35719208 35719208 T G SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known silent c.376 p.R126 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 194 0 0 69 35 33.6538 MAG 0 genome.wustl.edu 37 19 35801066 35801066 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 35801066 35801066 T C SNP MAG ENST00000392213 human ensembl 74_37 +1 known splice_site c.1519+2 e6+2 1.000 - - - no_errors MAG HGNC ENSG00000105695 57 0 0 23 8 25.8065 RBM42 0 genome.wustl.edu 37 19 36128120 36128120 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 36128120 36128120 G A SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.1196 p.R399H 0.996 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 61 0 0 31 4 11.4286 WDR62 0 genome.wustl.edu 37 19 36558217 36558217 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 36558217 36558217 G A SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.571 p.V191I 0.203 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 105 0 0 43 17 28.3333 MATK 0 genome.wustl.edu 37 19 3779589 3779589 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 3779589 3779589 C T SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.872 p.R291H 0.919 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 35 0 0 19 6 24 ZNF607 0 genome.wustl.edu 37 19 38200708 38200708 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38200708 38200708 C T SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.25 p.G9R 0.334 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF607 HGNC ENSG00000198182 85 0 0 22 20 47.619 ZNF573 0 genome.wustl.edu 37 19 38230302 38230302 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38230302 38230302 A G SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known silent c.1089 p.C363 0.965 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 ZNF573 HGNC ENSG00000189144 120 1 0.826446 63 31 32.9787 SIPA1L3 0 genome.wustl.edu 37 19 38572684 38572684 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38572684 38572684 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.479 p.G160D 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 185 0 0 47 23 32.8571 ACTN4 0 genome.wustl.edu 37 19 39218595 39218595 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39218595 39218595 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.2347 p.G783R 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 41 0 0 8 4 33.3333 PLEKHG2 0 genome.wustl.edu 37 19 39914556 39914556 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39914556 39914556 C T SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.2783 p.P928L 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 118 1 0.840336 57 21 26.9231 PLEKHG2 0 genome.wustl.edu 37 19 39914847 39914847 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39914847 39914847 A C SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.3074 p.E1025A 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 186 0 0 74 34 31.4815 SUPT5H 0 genome.wustl.edu 37 19 39955492 39955492 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39955492 39955492 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.679 p.V227M 1.000 pfam_TF_Spt5_NGN-domain,smart_Transcrpt_antiterm_NusG_N_dom,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 128 0 0 46 25 35.2113 TIMM50 0 genome.wustl.edu 37 19 39971319 39971319 + Silent SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39971319 39971319 G C SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known silent c.135 p.G45 0.001 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 75 0 0 38 9 19.1489 DLL3 0 genome.wustl.edu 37 19 39998592 39998592 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39998592 39998592 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.1796 p.R599H 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 47 0 0 22 13 37.1429 HIPK4 0 genome.wustl.edu 37 19 40889761 40889761 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 40889761 40889761 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.751 p.R251C 0.998 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK4 HGNC ENSG00000160396 126 1 0.787402 47 13 21.6667 SPTBN4 0 genome.wustl.edu 37 19 40993659 40993659 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 40993659 40993659 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.225 p.L75 0.998 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 82 0 0 58 12 17.1429 HNRNPUL1 0 genome.wustl.edu 37 19 41811718 41811718 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 41811718 41811718 G A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known silent c.2400 p.P800 0.016 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 98 0 0 55 13 19.1176 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 192 0 0 91 48 34.5324 TMEM145 0 genome.wustl.edu 37 19 42828932 42828932 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 42828932 42828932 G A SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known missense c.1445 p.R482H 0.997 NULL pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 31 0 0 6 7 53.8462 LIPE 0 genome.wustl.edu 37 19 42914870 42914870 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 42914870 42914870 G A SNP LIPE ENST00000244289 human ensembl 74_37 -1 known silent c.1008 p.G336 0.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 57 0 0 20 30 60 TMIGD2 0 genome.wustl.edu 37 19 4298063 4298063 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 4298063 4298063 G A SNP TMIGD2 ENST00000301272 human ensembl 74_37 -1 known missense c.326 p.A109V 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 213 0 0 92 11 10.6796 ZNF404 0 genome.wustl.edu 37 19 44377220 44377220 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 44377220 44377220 T C SNP ZNF404 ENST00000587539 human ensembl 74_37 -1 known silent c.1146 p.P382 0.331 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 ZNF404 HGNC ENSG00000176222 33 0 0 42 9 17.6471 ZNF224 0 genome.wustl.edu 37 19 44611764 44611764 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 44611764 44611764 T C SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.1451 p.F484S 0.098 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 ZNF224 HGNC ENSG00000267680 161 0 0 118 27 18.6207 TOMM40 0 genome.wustl.edu 37 19 45406424 45406424 + Nonstop_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 45406424 45406424 T C SNP TOMM40 ENST00000252487 human ensembl 74_37 +1 known nonstop c.1084 p.*362R 1.000 NULL pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 112 0 0 66 7 9.58904 MARK4 0 genome.wustl.edu 37 19 45762390 45762390 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 45762390 45762390 T C SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known silent c.195 p.I65 0.999 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_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 66 0 0 18 20 52.6316 GIPR 0 genome.wustl.edu 37 19 46180362 46180362 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 46180362 46180362 C A SNP GIPR ENST00000590918 human ensembl 74_37 +1 known silent c.789 p.G263 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 70 0 0 14 10 41.6667 FBXO46 0 genome.wustl.edu 37 19 46215278 46215278 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 46215278 46215278 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1476 p.A492 1.000 superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 36 0 0 14 4 22.2222 SYMPK 0 genome.wustl.edu 37 19 46330880 46330880 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 46330880 46330880 C T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.2069 p.S690N 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 55 0 0 21 12 36.3636 CCDC61 0 genome.wustl.edu 37 19 46519581 46519581 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 46519581 46519581 C T SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.1078 p.R360C 1.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 75 0 0 26 3 10.3448 DPP9 0 genome.wustl.edu 37 19 4703929 4703929 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 4703929 4703929 G A SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known silent c.738 p.G246 0.858 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 18 0 0 11 6 35.2941 CCDC9 0 genome.wustl.edu 37 19 47768157 47768157 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 47768157 47768157 G C SNP CCDC9 ENST00000221922 human ensembl 74_37 +1 known missense c.674 p.G225A 0.976 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 11 0 0 1 3 75 DHX34 0 genome.wustl.edu 37 19 47880430 47880430 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 47880430 47880430 C T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known silent c.2673 p.Y891 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 60 0 0 14 10 41.6667 ELSPBP1 0 genome.wustl.edu 37 19 48519210 48519210 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 48519210 48519210 C A SNP ELSPBP1 ENST00000339841 human ensembl 74_37 +1 known missense c.269 p.S90Y 0.262 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors ELSPBP1 HGNC ENSG00000169393 103 0 0 62 23 27.0588 LIG1 0 genome.wustl.edu 37 19 48660365 48660365 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 48660365 48660365 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known silent c.276 p.P92 0.001 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 200 0 0 69 58 45.6693 UHRF1 0 genome.wustl.edu 37 19 4932935 4932935 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 4932935 4932935 C A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors UHRF1 HGNC ENSG00000034063 43 0 0 24 9 27.2727 HRC 0 genome.wustl.edu 37 19 49656780 49656780 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49656780 49656780 T C SNP HRC ENST00000252825 human ensembl 74_37 -1 known missense c.1715 p.E572G 0.726 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 28 0 0 24 5 17.2414 SLC17A7 0 genome.wustl.edu 37 19 49938077 49938077 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49938077 49938077 C T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known missense c.497 p.R166H 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 52 0 0 34 6 15 BCL2L12 0 genome.wustl.edu 37 19 50173481 50173481 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 50173481 50173481 G A SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known silent c.690 p.S230 0.874 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 47 0 0 19 10 34.4828 TSKS 0 genome.wustl.edu 37 19 50266482 50266482 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 50266482 50266482 G A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.23 p.T8M 0.985 NULL NULL - no_errors TSKS HGNC ENSG00000126467 132 0 0 53 49 48.0392 AP2A1 0 genome.wustl.edu 37 19 50270389 50270389 + RNA SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 50270389 50270389 T G SNP AP2A1 ENST00000600199 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AP2A1 HGNC ENSG00000196961 72 0 0 27 3 10 KDM4B 0 genome.wustl.edu 37 19 5144107 5144107 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 5144107 5144107 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2680 p.D894N 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 138 0 0 39 22 36.0656 KDM4B 0 genome.wustl.edu 37 19 5144277 5144277 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 5144277 5144277 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2755 p.V919M 0.955 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 13 0 0 7 6 46.1538 SIGLEC10 0 genome.wustl.edu 37 19 51918574 51918574 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 51918574 51918574 C A SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.1191 p.Q397H 0.001 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_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 94 0 0 78 17 17.8947 PTPRS 0 genome.wustl.edu 37 19 5222849 5222849 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 5222849 5222849 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.2957 p.A986V 0.796 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 36 0 0 11 4 26.6667 PTPRS 0 genome.wustl.edu 37 19 5244269 5244269 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 5244269 5244269 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1216 p.V406I 0.969 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 80 0 0 36 11 23.4043 ZNF350 0 genome.wustl.edu 37 19 52468751 52468751 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 52468751 52468751 T C SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known missense c.955 p.I319V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 150 0 0 121 25 17.1233 ZNF610 0 genome.wustl.edu 37 19 52869533 52869533 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 52869533 52869533 C T SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.902 p.S301L 0.001 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 ZNF610 HGNC ENSG00000167554 70 0 0 68 13 16.0494 ZNF347 0 genome.wustl.edu 37 19 53644231 53644231 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 53644231 53644231 C A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1853 p.R618L 0.001 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 ZNF347 HGNC ENSG00000197937 183 1 0.543478 86 92 51.6854 ZNF765 0 genome.wustl.edu 37 19 53911306 53911306 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 53911306 53911306 G A SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known silent c.498 p.K166 0.002 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 ZNF765 HGNC ENSG00000196417 172 0 0 90 30 25 NLRP12 0 genome.wustl.edu 37 19 54299272 54299272 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54299272 54299272 C A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.2939 p.C980F 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 55 0 0 49 13 20.9677 NLRP12 0 genome.wustl.edu 37 19 54313572 54313572 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54313572 54313572 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.1341 p.P447 0.058 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 204 0 0 99 103 50.9901 PRKCG 0 genome.wustl.edu 37 19 54394937 54394937 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54394937 54394937 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.539 p.A180V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 243 0 0 92 93 50.2703 PRKCG 0 genome.wustl.edu 37 19 54401306 54401306 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54401306 54401306 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1033 p.R345C 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 106 0 0 50 79 61.2403 ZNRF4 0 genome.wustl.edu 37 19 5456563 5456563 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 5456563 5456563 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.1061 p.S354L 0.689 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 144 0 0 66 19 22.3529 TMC4 0 genome.wustl.edu 37 19 54667579 54667579 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54667579 54667579 C A SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.1154 p.G385V 0.036 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 130 0 0 49 55 52.8846 RDH13 0 genome.wustl.edu 37 19 55556595 55556595 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 55556595 55556595 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.843 p.A281 0.965 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 171 0 0 119 9 7.03125 EPS8L1 0 genome.wustl.edu 37 19 55592649 55592649 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 55592649 55592649 C T SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.563 p.P188L 0.993 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 12 0 0 3 3 50 BRSK1 0 genome.wustl.edu 37 19 55812995 55812995 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 55812995 55812995 T C SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.842 p.M281T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 28 0 0 34 10 22.7273 TMEM190 0 genome.wustl.edu 37 19 55889366 55889366 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 55889366 55889366 T C SNP TMEM190 ENST00000291934 human ensembl 74_37 +1 known missense c.329 p.L110P 0.957 NULL superfamily_P_trefoil - no_errors TMEM190 HGNC ENSG00000160472 70 0 0 61 6 8.95522 ISOC2 0 genome.wustl.edu 37 19 55966406 55966406 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 55966406 55966406 C A SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known missense c.535 p.G179W 0.996 superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 79 0 0 37 52 58.427 FIZ1 0 genome.wustl.edu 37 19 56103953 56103953 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 56103953 56103953 G A SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.1354 p.R452C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 23 0 0 23 5 17.8571 ZNF581 0 genome.wustl.edu 37 19 56156448 56156448 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 56156448 56156448 C T SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known missense c.511 p.R171C 0.993 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 195 0 0 58 79 57.6642 NLRP9 0 genome.wustl.edu 37 19 56235376 56235376 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 56235376 56235376 T C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2129 p.K710R 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 130 0 0 96 24 20 ZNF71 0 genome.wustl.edu 37 19 57133862 57133862 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 57133862 57133862 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1207 p.V403M 0.069 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 124 0 0 54 88 61.9718 ZNF543 0 genome.wustl.edu 37 19 57838089 57838089 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 57838089 57838089 C A SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.234 p.S78 0.001 pfscan_Krueppel-associated_box 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 ZNF543 HGNC ENSG00000178229 45 0 0 27 57 67.8571 ZNF772 0 genome.wustl.edu 37 19 57984642 57984642 + Nonstop_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 57984642 57984642 C A SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known nonstop c.1470 p.*490Y 0.014 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 ZNF772 HGNC ENSG00000197128 53 0 0 55 10 15.3846 ZNF132 0 genome.wustl.edu 37 19 58945229 58945229 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 58945229 58945229 A G SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.1582 p.S528P 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 ZNF132 HGNC ENSG00000131849 104 0 0 84 18 17.6471 MZF1 0 genome.wustl.edu 37 19 59073500 59073500 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 59073500 59073500 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.2144 p.G715D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 14 0 0 5 5 50 SLC25A41 0 genome.wustl.edu 37 19 6427487 6427487 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 6427487 6427487 C T SNP SLC25A41 ENST00000321510 human ensembl 74_37 -1 known missense c.650 p.R217H 0.915 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 14 0 0 9 4 30.7692 ARHGEF18 0 genome.wustl.edu 37 19 7527040 7527040 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 7527040 7527040 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.1891 p.R631W 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 254 0 0 65 32 32.9897 MISP 0 genome.wustl.edu 37 19 761663 761663 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 761663 761663 G T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.1950 p.E650D 1.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 65 0 0 27 8 22.8571 XAB2 0 genome.wustl.edu 37 19 7692672 7692672 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 7692672 7692672 T G SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.266 p.D89A 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 213 1 0.46729 73 30 29.1262 ELAVL1 0 genome.wustl.edu 37 19 8046031 8046031 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 8046031 8046031 G A SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.293 p.A98V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 94 0 0 47 19 28.7879 PTBP1 0 genome.wustl.edu 37 19 807901 807901 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 807901 807901 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known silent c.1152 p.F384 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 186 0 0 65 18 21.6867 FBN3 0 genome.wustl.edu 37 19 8171112 8171112 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 8171112 8171112 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.4693 p.D1565N 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 59 0 0 23 9 28.125 ADAMTS10 0 genome.wustl.edu 37 19 8656952 8656952 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 8656952 8656952 C T SNP ADAMTS10 ENST00000593826 human ensembl 74_37 -1 known missense c.95 p.R32H 0.302 NULL NULL - no_errors ADAMTS10 HGNC ENSG00000142303 86 0 0 27 9 25 MUC16 0 genome.wustl.edu 37 19 9069345 9069345 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 9069345 9069345 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18101 p.Q6034R 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 283 0 0 106 37 25.8741 OR7D4 0 genome.wustl.edu 37 19 9324906 9324906 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 9324906 9324906 G A SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.608 p.T203M 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 163 0 0 65 5 7.14286 WDR18 0 genome.wustl.edu 37 19 990308 990308 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 990308 990308 G A SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.541 p.G181S 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 30 0 0 22 6 21.4286 AFF3 0 genome.wustl.edu 37 2 100170848 100170848 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 100170848 100170848 C T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3559 p.V1187I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 209 0 0 45 32 41.5584 NPAS2 0 genome.wustl.edu 37 2 101607279 101607279 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 101607279 101607279 G A SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.2251 p.G751R 0.951 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 80 0 0 21 10 32.2581 CD8BP 0 genome.wustl.edu 37 2 107107470 107107470 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 107107470 107107470 A G SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CD8BP HGNC ENSG00000254126 86 0 0 32 19 37.2549 CD8BP 0 genome.wustl.edu 37 2 107107653 107107653 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 107107653 107107653 G A SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD8BP HGNC ENSG00000254126 112 0 0 49 18 26.8657 ST6GAL2 0 genome.wustl.edu 37 2 107459775 107459775 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 107459775 107459775 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.659 p.R220H 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 31 0 0 24 11 31.4286 SOWAHC 0 genome.wustl.edu 37 2 110373095 110373095 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 110373095 110373095 C T SNP SOWAHC ENST00000356454 human ensembl 74_37 +1 known silent c.1029 p.T343 0.488 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_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 SOWAHC HGNC ENSG00000198142 102 0 0 34 22 39.2857 ANAPC1 0 genome.wustl.edu 37 2 112620029 112620029 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 112620029 112620029 G A SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.1199 p.T400M 0.779 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 43 0 0 21 3 12.5 MERTK 0 genome.wustl.edu 37 2 112686911 112686911 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 112686911 112686911 G A SNP MERTK ENST00000295408 human ensembl 74_37 +1 known silent c.276 p.P92 0.002 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 101 0 0 40 16 28.5714 POLR1B 0 genome.wustl.edu 37 2 113306901 113306901 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 113306901 113306901 A G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.664 p.M222V 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 98 0 0 28 17 37.7778 GREB1 0 genome.wustl.edu 37 2 11777871 11777871 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 11777871 11777871 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.5376 p.P1792 0.002 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 96 0 0 29 10 25.641 INSIG2 0 genome.wustl.edu 37 2 118860856 118860856 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 118860856 118860856 C T SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.328 p.R110W 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 145 0 0 75 30 28.5714 LPIN1 0 genome.wustl.edu 37 2 11944581 11944581 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 11944581 11944581 C T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known silent c.2193 p.D731 0.930 superfamily_WD40_repeat_dom pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 103 0 0 38 21 35.5932 PCDP1 0 genome.wustl.edu 37 2 120366155 120366155 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 120366155 120366155 C T SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.000 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 271 0 0 87 39 30.9524 INHBB 0 genome.wustl.edu 37 2 121107211 121107211 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 121107211 121107211 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.985 p.G329R 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 125 0 0 51 24 32 CLASP1 0 genome.wustl.edu 37 2 122144775 122144775 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 122144775 122144775 C T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known silent c.3297 p.T1099 0.989 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 22 0 0 22 5 18.5185 LIMS2 0 genome.wustl.edu 37 2 128396806 128396806 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 128396806 128396806 C T SNP LIMS2 ENST00000494613 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LIMS2 HGNC ENSG00000072163 64 0 0 48 20 29.4118 WDR33 0 genome.wustl.edu 37 2 128522235 128522235 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 128522235 128522235 A G SNP WDR33 ENST00000409658 human ensembl 74_37 -1 known missense c.793 p.W265R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 11 0 0 12 3 20 POTEI 0 genome.wustl.edu 37 2 131266695 131266695 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 131266695 131266695 G A SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel silent c.114 p.S38 0.152 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 107 0 0 45 12 21.0526 NCKAP5 0 genome.wustl.edu 37 2 133542088 133542088 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 133542088 133542088 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known nonsense c.2296 p.Q766* 0.106 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 122 0 0 49 32 39.5062 MGAT5 0 genome.wustl.edu 37 2 135095925 135095925 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 135095925 135095925 C T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known silent c.741 p.D247 0.996 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 65 0 0 32 17 34.6939 RAB3GAP1 0 genome.wustl.edu 37 2 135870727 135870727 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 135870727 135870727 G A SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known silent c.369 p.G123 0.452 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 197 0 0 53 25 32.0513 LCT 0 genome.wustl.edu 37 2 136567501 136567501 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 136567501 136567501 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.2416 p.E806K 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 138 0 0 51 27 34.6154 EPC2 0 genome.wustl.edu 37 2 149511608 149511608 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 149511608 149511608 T C SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known missense c.572 p.I191T 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 34 0 0 8 6 42.8571 EPC2 0 genome.wustl.edu 37 2 149542480 149542480 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 149542480 149542480 C T SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known missense c.2261 p.S754L 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 47 0 0 24 12 33.3333 NEB 0 genome.wustl.edu 37 2 152500522 152500522 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 152500522 152500522 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.7766 p.Y2589C 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 723 0 0 347 25 6.72043 WDSUB1 0 genome.wustl.edu 37 2 160104952 160104952 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 160104952 160104952 A G SNP WDSUB1 ENST00000359774 human ensembl 74_37 -1 known missense c.1204 p.S402P 1.000 superfamily_SAM/pointed pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 97 0 0 43 18 29.5082 ITGB6 0 genome.wustl.edu 37 2 161052047 161052047 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 161052047 161052047 G A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known silent c.426 p.S142 0.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 123 0 0 66 5 7.04225 SCN3A 0 genome.wustl.edu 37 2 165972001 165972001 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 165972001 165972001 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.3478 p.E1160K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 87 0 0 35 22 38.5965 SCN2A 0 genome.wustl.edu 37 2 166237172 166237172 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 166237172 166237172 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4379 p.G1460D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 59 0 0 36 18 33.3333 TTC21B 0 genome.wustl.edu 37 2 166755270 166755270 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 166755270 166755270 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.2876 p.A959V 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 61 0 0 31 14 31.1111 TTC21B 0 genome.wustl.edu 37 2 166756333 166756333 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 166756333 166756333 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.2815 p.R939W 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 116 0 0 31 16 34.0426 XIRP2 0 genome.wustl.edu 37 2 168107104 168107104 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 168107104 168107104 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9202 p.E3068K 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 150 0 0 49 19 27.9412 XIRP2 0 genome.wustl.edu 37 2 168107330 168107330 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 168107330 168107330 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9428 p.Q3143R 0.356 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 195 0 0 67 27 28.7234 MYO3B 0 genome.wustl.edu 37 2 171399449 171399449 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 171399449 171399449 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known silent c.3636 p.C1212 0.018 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 180 1 0.552486 44 27 38.0282 EVX2 0 genome.wustl.edu 37 2 176948462 176948462 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 176948462 176948462 C A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.43 p.G15W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 158 0 0 54 23 29.8701 TTN 0 genome.wustl.edu 37 2 179396160 179396160 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179396160 179396160 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97478 p.A32493V 0.608 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 126 0 0 63 30 32.2581 TTN 0 genome.wustl.edu 37 2 179401713 179401713 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179401713 179401713 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92419 p.S30807G 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 42 0 0 13 7 35 TTN 0 genome.wustl.edu 37 2 179402412 179402412 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179402412 179402412 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91818 p.I30606M 0.772 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 19 17 47.2222 TTN 0 genome.wustl.edu 37 2 179443562 179443562 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179443562 179443562 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60491 p.S20164L 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 154 0 0 45 24 34.7826 TTN 0 genome.wustl.edu 37 2 179477175 179477175 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179477175 179477175 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.42373 p.V14125I 1.000 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 43 0 0 23 8 25.8065 TTN 0 genome.wustl.edu 37 2 179544075 179544075 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 179544075 179544075 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.30001 p.P10001S 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 86 0 0 28 13 31.7073 NT5C1B 0 genome.wustl.edu 37 2 18765871 18765871 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 18765871 18765871 T C SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.812 p.Q271R 0.004 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 27 0 0 10 5 33.3333 GULP1 0 genome.wustl.edu 37 2 189449083 189449083 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 189449083 189449083 G A SNP GULP1 ENST00000359135 human ensembl 74_37 +1 known missense c.701 p.R234H 0.998 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors GULP1 HGNC ENSG00000144366 152 0 0 71 25 26.0417 SDPR 0 genome.wustl.edu 37 2 192711451 192711451 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 192711451 192711451 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.201 p.N67 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 74 0 0 39 28 41.791 DNAH7 0 genome.wustl.edu 37 2 196602773 196602773 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 196602773 196602773 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.11947 p.R3983W 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 67 0 0 24 8 25 SPATS2L 0 genome.wustl.edu 37 2 201342603 201342603 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 201342603 201342603 G T SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.1616 p.R539L 1.000 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 25 0 0 12 5 29.4118 FAM126B 0 genome.wustl.edu 37 2 201857061 201857061 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 201857061 201857061 T G SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.774 p.E258D 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 155 0 0 56 30 34.8837 BMPR2 0 genome.wustl.edu 37 2 203379644 203379644 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 203379644 203379644 T C SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.563 p.M188T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 62 0 0 43 22 33.8462 ICOS 0 genome.wustl.edu 37 2 204820440 204820440 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 204820440 204820440 T C SNP ICOS ENST00000316386 human ensembl 74_37 +1 known missense c.140 p.I47T 0.000 NULL NULL - no_errors ICOS HGNC ENSG00000163600 141 0 0 61 30 32.967 KLF7 0 genome.wustl.edu 37 2 207988869 207988869 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 207988869 207988869 C T SNP KLF7 ENST00000309446 human ensembl 74_37 -1 known missense c.362 p.S121N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 68 0 0 34 10 22.7273 GDF7 0 genome.wustl.edu 37 2 20870956 20870956 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 20870956 20870956 C T SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known missense c.1124 p.A375V 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 64 0 0 11 9 45 KANSL1L 0 genome.wustl.edu 37 2 210887719 210887719 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 210887719 210887719 T A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.2918 p.Y973F 0.004 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 73 0 0 40 14 25.9259 APOB 0 genome.wustl.edu 37 2 21228488 21228488 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 21228488 21228488 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11252 p.V3751A 0.998 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 257 0 0 109 54 33.1288 FN1 0 genome.wustl.edu 37 2 216245649 216245649 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 216245649 216245649 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.5319 p.G1773 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 170 0 0 78 31 28.4404 WNT6 0 genome.wustl.edu 37 2 219736388 219736388 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 219736388 219736388 G A SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known silent c.483 p.P161 0.000 pfam_Wnt,smart_Wnt,prints_Wnt6 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 26 0 0 7 3 30 CCDC108 0 genome.wustl.edu 37 2 219878239 219878239 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 219878239 219878239 A G SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known splice_site c.3846+2 e21+2 1.000 - - - no_errors CCDC108 HGNC ENSG00000181378 20 0 0 5 4 44.4444 ASIC4 0 genome.wustl.edu 37 2 220379756 220379756 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 220379756 220379756 G A SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.691 p.A231T 0.978 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 61 0 0 37 6 13.9535 STK11IP 0 genome.wustl.edu 37 2 220471013 220471013 + Splice_Site SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 220471013 220471013 G A SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel splice_site c.945+1 e9+1 0.995 - - - no_errors STK11IP HGNC ENSG00000144589 9 0 0 3 3 50 SLC4A3 0 genome.wustl.edu 37 2 220505562 220505562 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 220505562 220505562 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.3580 p.A1194T 0.940 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 67 0 0 24 14 36.8421 FAM124B 0 genome.wustl.edu 37 2 225266244 225266244 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 225266244 225266244 C A SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.242 p.R81M 0.999 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 79 0 0 41 15 26.7857 CUL3 0 genome.wustl.edu 37 2 225378351 225378351 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 225378351 225378351 C T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.544 p.A182T 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 77 0 0 26 11 29.7297 TRIP12 0 genome.wustl.edu 37 2 230655844 230655844 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 230655844 230655844 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known nonsense c.4314 p.W1438* 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 156 0 0 51 23 31.0811 TRPM8 0 genome.wustl.edu 37 2 234835263 234835263 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 234835263 234835263 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.81 p.S27 0.021 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 48 0 0 44 8 15.3846 SH3BP4 0 genome.wustl.edu 37 2 235951125 235951125 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 235951125 235951125 G A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.1712 p.R571H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 146 1 0.680272 60 4 6.25 AGAP1 0 genome.wustl.edu 37 2 237029036 237029036 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 237029036 237029036 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2315 p.A772V 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 178 0 0 35 17 32.6923 COL6A3 0 genome.wustl.edu 37 2 238277416 238277416 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 238277416 238277416 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.4690 p.R1564C 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 182 0 0 88 34 27.8689 ESPNL 0 genome.wustl.edu 37 2 239039951 239039951 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 239039951 239039951 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known silent c.2596 p.L866 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 13 0 0 5 4 44.4444 ILKAP 0 genome.wustl.edu 37 2 239082212 239082212 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 239082212 239082212 G A SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known missense c.919 p.P307S 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 83 0 0 28 19 40.4255 PER2 0 genome.wustl.edu 37 2 239162216 239162216 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 239162216 239162216 G A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known silent c.2448 p.P816 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 25 0 0 11 7 38.8889 RNPEPL1 0 genome.wustl.edu 37 2 241516125 241516125 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 241516125 241516125 A G SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.991 p.T331A 1.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 131 1 0.757576 47 8 14.5455 CAPN10 0 genome.wustl.edu 37 2 241536099 241536099 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 241536099 241536099 G A SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.884 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 71 0 0 36 4 10 ANO7 0 genome.wustl.edu 37 2 242128129 242128129 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 242128129 242128129 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.103 p.A35T 0.000 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 56 0 0 29 6 17.1429 HDLBP 0 genome.wustl.edu 37 2 242179175 242179175 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 242179175 242179175 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2452 p.R818C 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 91 0 0 54 15 21.7391 GAL3ST2 0 genome.wustl.edu 37 2 242741376 242741376 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 242741376 242741376 G A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known silent c.300 p.A100 0.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 63 0 0 31 8 20.5128 SLC5A6 0 genome.wustl.edu 37 2 27430333 27430333 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 27430333 27430333 C T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.186 p.A62 0.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 66 0 0 29 19 39.5833 PLB1 0 genome.wustl.edu 37 2 28855889 28855889 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 28855889 28855889 G A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.4048 p.A1350T 0.711 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 91 0 0 33 22 40 BIRC6 0 genome.wustl.edu 37 2 32695244 32695244 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 32695244 32695244 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.6356 p.M2119T 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 13 0 0 5 2 28.5714 LTBP1 0 genome.wustl.edu 37 2 33359851 33359851 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 33359851 33359851 C T SNP LTBP1 ENST00000390003 human ensembl 74_37 +1 known missense c.47 p.P16L 0.945 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 141 0 0 48 17 26.1538 SIX2 0 genome.wustl.edu 37 2 45236072 45236072 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 45236072 45236072 G A SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known missense c.178 p.R60C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 146 0 0 46 9 16.3636 PRKCE 0 genome.wustl.edu 37 2 46203633 46203633 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 46203633 46203633 G A SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.478 p.V160I 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 144 0 0 48 22 31.4286 PPP1R21 0 genome.wustl.edu 37 2 48722901 48722901 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 48722901 48722901 T C SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known silent c.1683 p.L561 0.972 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 96 0 0 32 13 28.8889 NRXN1 0 genome.wustl.edu 37 2 50280724 50280724 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 50280724 50280724 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3789 p.R1263 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 86 0 0 41 15 26.7857 NRXN1 0 genome.wustl.edu 37 2 51255184 51255184 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 51255184 51255184 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.228 p.C76 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 29 0 0 10 11 52.381 SPTBN1 0 genome.wustl.edu 37 2 54876770 54876770 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 54876770 54876770 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.5221 p.R1741W 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 43 0 0 31 11 26.1905 SOX11 0 genome.wustl.edu 37 2 5833132 5833132 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 5833132 5833132 C T SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.279 p.S93 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 55 0 0 21 6 22.2222 REL 0 genome.wustl.edu 37 2 61148969 61148969 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 61148969 61148969 T C SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.1159 p.Y387H 0.921 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 187 0 0 57 23 28.75 USP34 0 genome.wustl.edu 37 2 61575065 61575065 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 61575065 61575065 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.2225 p.R742Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 167 0 0 67 44 39.6396 XPO1 0 genome.wustl.edu 37 2 61711237 61711237 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 61711237 61711237 A C SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.2512 p.F838V 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 115 0 0 46 6 11.5385 AFTPH 0 genome.wustl.edu 37 2 64779393 64779393 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 64779393 64779393 G A SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 134 0 0 50 30 37.5 CEP68 0 genome.wustl.edu 37 2 65298713 65298713 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 65298713 65298713 C A SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known silent c.483 p.P161 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 90 0 0 49 10 16.9492 ADD2 0 genome.wustl.edu 37 2 70890788 70890788 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 70890788 70890788 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.1950 p.N650 0.874 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 136 0 0 42 30 41.6667 DYSF 0 genome.wustl.edu 37 2 71825778 71825778 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 71825778 71825778 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3698 p.T1233M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 86 0 0 27 12 30.7692 DYSF 0 genome.wustl.edu 37 2 71908139 71908139 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 71908139 71908139 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.6048 p.L2016 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 57 0 0 12 11 47.8261 FBXO41 0 genome.wustl.edu 37 2 73491114 73491114 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 73491114 73491114 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.2057 p.R686Q 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 30 0 0 5 4 44.4444 ALMS1 0 genome.wustl.edu 37 2 73677596 73677596 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 73677596 73677596 A G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.3939 p.S1313 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 299 0 0 145 74 33.79 TACR1 0 genome.wustl.edu 37 2 75347720 75347720 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 75347720 75347720 C T SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known silent c.564 p.P188 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 108 0 0 57 20 25.974 TGOLN2 0 genome.wustl.edu 37 2 85554669 85554669 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 85554669 85554669 A G SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known silent c.186 p.T62 0.000 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 289 0 0 155 72 31.7181 POLR1A 0 genome.wustl.edu 37 2 86258589 86258589 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 86258589 86258589 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.4442 p.T1481M 0.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 214 0 0 79 23 22.549 POLR1A 0 genome.wustl.edu 37 2 86327260 86327260 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 86327260 86327260 T C SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.113 p.Y38C 0.650 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 76 0 0 26 13 33.3333 GPAT2 0 genome.wustl.edu 37 2 96691753 96691753 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 96691753 96691753 A G SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.1163 p.I388T 0.002 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 42 0 0 22 4 15.3846 ARID5A 0 genome.wustl.edu 37 2 97217956 97217956 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 97217956 97217956 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known missense c.1691 p.R564H 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 218 0 0 89 30 25.2101 SEMA4C 0 genome.wustl.edu 37 2 97530066 97530066 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 97530066 97530066 C T SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.1016 p.R339Q 0.995 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 230 0 0 63 32 33.6842 ZAP70 0 genome.wustl.edu 37 2 98340512 98340512 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 98340512 98340512 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.13 p.A5T 1.000 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 12 0 0 1 2 66.6667 VWA3B 0 genome.wustl.edu 37 2 98737906 98737906 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 98737906 98737906 C T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known silent c.687 p.A229 0.006 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 136 0 0 50 21 29.5775 INPP4A 0 genome.wustl.edu 37 2 99155399 99155399 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 99155399 99155399 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known nonsense c.625 p.R209* 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 21 0 0 3 5 62.5 JAG1 0 genome.wustl.edu 37 20 10653395 10653395 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 10653395 10653395 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.341 p.G114D 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 105 0 0 55 8 12.6984 NSFL1C 0 genome.wustl.edu 37 20 1424325 1424325 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 1424325 1424325 C T SNP NSFL1C ENST00000461211 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NSFL1C HGNC ENSG00000088833 24 0 0 13 5 27.7778 MACROD2 0 genome.wustl.edu 37 20 14665540 14665540 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 14665540 14665540 G A SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.353 p.R118H 0.983 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 222 0 0 64 27 29.6703 KIF16B 0 genome.wustl.edu 37 20 16488710 16488710 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 16488710 16488710 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.592 p.V198I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 333 0 0 111 32 22.3776 BFSP1 0 genome.wustl.edu 37 20 17479597 17479597 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 17479597 17479597 C T SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known missense c.824 p.R275H 1.000 superfamily_Prefoldin pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 109 0 0 54 20 27.027 SNORD17 0 genome.wustl.edu 37 20 17943463 17943463 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 17943463 17943463 T C SNP SNORD17 ENST00000390930 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors SNORD17 HGNC ENSG00000212232 105 0 0 38 23 37.7049 SEC23B 0 genome.wustl.edu 37 20 18523027 18523027 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 18523027 18523027 G A SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1492 p.V498M 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 222 0 0 89 55 38.1944 SIRPA 0 genome.wustl.edu 37 20 1918079 1918079 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 1918079 1918079 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known silent c.1392 p.P464 0.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 154 0 0 44 26 37.1429 ACSS1 0 genome.wustl.edu 37 20 25038592 25038592 + Silent SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 25038592 25038592 T A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.147 p.A49 0.000 NULL pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 14 0 0 11 7 38.8889 VPS16 0 genome.wustl.edu 37 20 2843946 2843946 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 2843946 2843946 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.1378 p.R460W 1.000 pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 128 0 0 41 15 26.7857 REM1 0 genome.wustl.edu 37 20 30070226 30070226 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 30070226 30070226 A G SNP REM1 ENST00000201979 human ensembl 74_37 +1 known missense c.560 p.H187R 1.000 pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 86 0 0 31 15 32.6087 CCM2L 0 genome.wustl.edu 37 20 30602874 30602874 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 30602874 30602874 G T SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known missense c.198 p.K66N 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 132 0 0 56 22 28.2051 SLC4A11 0 genome.wustl.edu 37 20 3215452 3215452 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 3215452 3215452 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known silent c.306 p.I102 0.799 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 85 0 0 45 13 22.4138 C20orf194 0 genome.wustl.edu 37 20 3276890 3276890 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 3276890 3276890 G A SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf194 HGNC ENSG00000088854 20 0 0 9 11 55 NRSN2 0 genome.wustl.edu 37 20 334250 334250 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 334250 334250 C T SNP NRSN2 ENST00000382285 human ensembl 74_37 +1 known nonsense c.586 p.Q196* 1.000 NULL NULL - no_errors NRSN2 HGNC ENSG00000125841 146 0 0 49 24 32.8767 C20orf194 0 genome.wustl.edu 37 20 3354734 3354734 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 3354734 3354734 C A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.573 p.E191D 0.998 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 116 0 0 44 19 30.1587 SPAG4 0 genome.wustl.edu 37 20 34205465 34205465 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 34205465 34205465 G A SNP SPAG4 ENST00000374273 human ensembl 74_37 +1 known missense c.433 p.V145M 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 13 0 0 8 7 46.6667 PHF20 0 genome.wustl.edu 37 20 34505541 34505541 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 34505541 34505541 G A SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.1961 p.R654H 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 56 0 0 24 11 31.4286 RBL1 0 genome.wustl.edu 37 20 35635937 35635937 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 35635937 35635937 A G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known silent c.2748 p.P916 0.995 pfam_RB_B,superfamily_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 63 0 0 27 19 41.3043 RPRD1B 0 genome.wustl.edu 37 20 36718282 36718282 + RNA SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 36718282 36718282 G T SNP RPRD1B ENST00000471511 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPRD1B HGNC ENSG00000101413 147 0 0 48 20 29.4118 HSPA12B 0 genome.wustl.edu 37 20 3719363 3719363 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 3719363 3719363 C T SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known silent c.42 p.I14 0.143 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 90 0 0 33 13 28.2609 MAFB 0 genome.wustl.edu 37 20 39316588 39316588 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 39316588 39316588 G A SNP MAFB ENST00000373313 human ensembl 74_37 -1 known silent c.903 p.L301 1.000 pfam_bZIP_Maf,pfscan_bZIP pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 159 1 0.625 45 23 33.8235 IFT52 0 genome.wustl.edu 37 20 42264653 42264653 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 42264653 42264653 G A SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known silent c.1011 p.A337 0.995 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 68 0 0 19 7 26.9231 ELMO2 0 genome.wustl.edu 37 20 45000493 45000493 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 45000493 45000493 C T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1568 p.R523H 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 115 0 0 55 7 11.2903 FAM65C 0 genome.wustl.edu 37 20 49218795 49218795 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 49218795 49218795 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.1473 p.S491 0.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 56 0 0 23 8 25.8065 KCNG1 0 genome.wustl.edu 37 20 49626482 49626482 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 49626482 49626482 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.394 p.R132C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 75 0 0 32 21 39.6226 ZFP64 0 genome.wustl.edu 37 20 50701514 50701514 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 50701514 50701514 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.738 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 113 1 0.877193 54 7 11.4754 PROKR2 0 genome.wustl.edu 37 20 5282772 5282772 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 5282772 5282772 G A SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.1069 p.R357W 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 106 0 0 45 20 30.7692 CASS4 0 genome.wustl.edu 37 20 55012586 55012586 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 55012586 55012586 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.403 p.D135N 0.645 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 209 0 0 82 41 33.3333 RAE1 0 genome.wustl.edu 37 20 55948793 55948793 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 55948793 55948793 C T SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.824 p.A275V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 274 1 0.363636 141 9 6 CTCFL 0 genome.wustl.edu 37 20 56099047 56099047 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 56099047 56099047 G A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.215 p.S72L 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 210 0 0 109 53 32.716 PCK1 0 genome.wustl.edu 37 20 56138664 56138664 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 56138664 56138664 C T SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.842 p.A281V 0.991 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 97 0 0 48 15 23.8095 ZNF831 0 genome.wustl.edu 37 20 57766302 57766302 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 57766302 57766302 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.228 p.P76 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 16 0 0 15 10 40 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 137 1 0.724638 44 43 49.4253 OGFR 0 genome.wustl.edu 37 20 61444236 61444236 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 61444236 61444236 C T SNP OGFR ENST00000290291 human ensembl 74_37 +1 known silent c.1269 p.S423 0.000 NULL pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 82 0 0 24 8 25 BHLHE23 0 genome.wustl.edu 37 20 61637536 61637536 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 61637536 61637536 C T SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known silent c.543 p.A181 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 13 0 0 5 3 37.5 HELZ2 0 genome.wustl.edu 37 20 62195762 62195762 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 62195762 62195762 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.4413 p.A1471 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 8 0 0 1 2 66.6667 RTEL1 0 genome.wustl.edu 37 20 62326158 62326158 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 62326158 62326158 C T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.3174 p.H1058 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 67 0 0 15 12 44.4444 ZGPAT 0 genome.wustl.edu 37 20 62366334 62366334 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 62366334 62366334 G A SNP ZGPAT ENST00000478385 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZGPAT HGNC ENSG00000197114 14 0 0 5 5 50 PCMTD2 0 genome.wustl.edu 37 20 62904614 62904614 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 62904614 62904614 C T SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known silent c.747 p.I249 0.916 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 121 0 0 41 24 36.9231 SLC52A3 0 genome.wustl.edu 37 20 746209 746209 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 746209 746209 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known silent c.210 p.S70 0.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 11 0 0 4 6 60 TMPRSS15 0 genome.wustl.edu 37 21 19713805 19713805 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 19713805 19713805 G T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1489 p.L497I 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 136 0 0 52 23 30.6667 NCAM2 0 genome.wustl.edu 37 21 22804468 22804468 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 22804468 22804468 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.1521 p.L507 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 87 0 0 29 16 35.5556 NCAM2 0 genome.wustl.edu 37 21 22804561 22804561 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 22804561 22804561 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.1614 p.A538 0.538 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 74 0 0 35 7 16.6667 ADAMTS5 0 genome.wustl.edu 37 21 28296840 28296840 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 28296840 28296840 T C SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.2325 p.L775 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 223 0 0 109 43 28.2895 ADAMTS5 0 genome.wustl.edu 37 21 28327159 28327159 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 28327159 28327159 A G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1136 p.L379P 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 62 0 0 20 6 23.0769 ADAMTS5 0 genome.wustl.edu 37 21 28338050 28338050 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 28338050 28338050 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.661 p.H221Y 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 23 0 0 3 3 50 LTN1 0 genome.wustl.edu 37 21 30302779 30302779 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 30302779 30302779 C T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known silent c.5430 p.T1810 0.992 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 111 0 0 43 21 32.8125 CLDN17 0 genome.wustl.edu 37 21 31538698 31538698 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 31538698 31538698 C A SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.238 p.A80S 0.944 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 111 0 0 37 24 39.3443 SCAF4 0 genome.wustl.edu 37 21 33068880 33068880 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 33068880 33068880 A G SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known splice_site c.959+2 e8+2 0.952 - - - no_errors SCAF4 HGNC ENSG00000156304 49 0 0 30 3 9.09091 OLIG1 0 genome.wustl.edu 37 21 34442872 34442872 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 34442872 34442872 G A SNP OLIG1 ENST00000382348 human ensembl 74_37 +1 known missense c.320 p.R107Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG1 HGNC ENSG00000184221 12 0 0 3 3 50 DSCR10 0 genome.wustl.edu 37 21 39580515 39580515 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 39580515 39580515 A G SNP DSCR10 ENST00000432141 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR10 HGNC ENSG00000233316 496 0 0 179 65 26.6393 PDE9A 0 genome.wustl.edu 37 21 44182195 44182195 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 44182195 44182195 A G SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1088 p.Y363C 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 41 0 0 17 10 37.037 PKNOX1 0 genome.wustl.edu 37 21 44438315 44438315 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 44438315 44438315 G A SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.695 p.G232E 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 65 0 0 11 7 38.8889 PWP2 0 genome.wustl.edu 37 21 45539381 45539381 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 45539381 45539381 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1165 p.V389M 0.290 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 8 0 0 1 3 75 KRTAP12-2 0 genome.wustl.edu 37 21 46086770 46086770 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 46086770 46086770 G A SNP KRTAP12-2 ENST00000360770 human ensembl 74_37 -1 known missense c.34 p.P12S 0.284 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 68 0 0 19 9 32.1429 ITGB2 0 genome.wustl.edu 37 21 46330393 46330393 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 46330393 46330393 C T SNP ITGB2 ENST00000523126 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ITGB2 HGNC ENSG00000160255 11 0 0 7 7 50 POFUT2 0 genome.wustl.edu 37 21 46705828 46705828 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 46705828 46705828 G A SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known silent c.147 p.D49 0.948 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 153 0 0 62 34 35.4167 COL18A1 0 genome.wustl.edu 37 21 46924392 46924392 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 46924392 46924392 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.4035 p.G1345 0.004 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 29 0 0 10 7 41.1765 PCNT 0 genome.wustl.edu 37 21 47831338 47831338 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 47831338 47831338 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.5351 p.R1784H 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 67 0 0 32 11 25.5814 ENSG00000273244 0 genome.wustl.edu 37 22 17172935 17172935 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 17172935 17172935 C T SNP ENSG00000273244 ENST00000423580 human ensembl 74_37 -1 known rna NULL NULL 0.802 - - - no_errors KB-7G2.8 Clone_based_vega_gene ENSG00000273244 38 0 0 9 4 30.7692 XKR3 0 genome.wustl.edu 37 22 17265053 17265053 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 17265053 17265053 G T SNP XKR3 ENST00000331428 human ensembl 74_37 -1 known missense c.836 p.P279Q 0.995 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 53 0 0 25 9 26.4706 CECR6 0 genome.wustl.edu 37 22 17600895 17600895 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 17600895 17600895 C T SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known missense c.1123 p.A375T 0.877 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 18 0 0 12 5 29.4118 PEX26 0 genome.wustl.edu 37 22 18566233 18566233 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 18566233 18566233 T C SNP PEX26 ENST00000329627 human ensembl 74_37 +1 known silent c.402 p.P134 0.045 pfam_Pex26 pfam_Pex26 - no_errors PEX26 HGNC ENSG00000215193 404 0 0 129 55 29.8913 DGCR8 0 genome.wustl.edu 37 22 20073923 20073923 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 20073923 20073923 C T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.437 p.A146V 0.046 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 170 0 0 68 26 27.6596 GGTLC3 0 genome.wustl.edu 37 22 20366455 20366455 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 20366455 20366455 G A SNP GGTLC3 ENST00000404912 human ensembl 74_37 -1 known silent c.591 p.I197 0.856 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC3 HGNC ENSG00000183038 238 0 0 54 32 37.2093 MED15 0 genome.wustl.edu 37 22 20918929 20918929 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 20918929 20918929 A T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.644 p.Q215L 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 37 0 0 18 11 37.931 MED15 0 genome.wustl.edu 37 22 20918930 20918930 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 20918930 20918930 G C SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.645 p.Q215H 0.994 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 37 0 0 18 12 40 PI4KA 0 genome.wustl.edu 37 22 21064271 21064271 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 21064271 21064271 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.6098 p.A2033V 0.998 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 109 0 0 37 11 22.9167 LZTR1 0 genome.wustl.edu 37 22 21346541 21346541 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 21346541 21346541 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.1032 p.S344 0.004 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 66 0 0 29 10 25.641 HIC2 0 genome.wustl.edu 37 22 21800988 21800988 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 21800988 21800988 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1804 p.R602C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 124 0 0 40 16 28.5714 YPEL1 0 genome.wustl.edu 37 22 22064942 22064942 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 22064942 22064942 G A SNP YPEL1 ENST00000339468 human ensembl 74_37 -1 known missense c.92 p.A31V 1.000 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL1 HGNC ENSG00000100027 279 0 0 102 55 35.0318 ZNF280A 0 genome.wustl.edu 37 22 22869135 22869135 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 22869135 22869135 C T SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.820 p.V274M 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 156 1 0.636943 94 35 27.1318 BCR 0 genome.wustl.edu 37 22 23541506 23541506 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 23541506 23541506 A G SNP BCR ENST00000487679 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors BCR HGNC ENSG00000186716 136 0 0 47 25 34.7222 UPB1 0 genome.wustl.edu 37 22 24898311 24898311 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 24898311 24898311 G A SNP UPB1 ENST00000382760 human ensembl 74_37 +1 putative missense c.371 p.R124H 0.212 NULL superfamily_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 52 0 0 36 11 23.4043 AP1B1 0 genome.wustl.edu 37 22 29727444 29727444 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 29727444 29727444 T C SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.2518 p.K840E 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 364 0 0 107 46 30.0654 TBC1D10A 0 genome.wustl.edu 37 22 30691731 30691731 + Silent SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 30691731 30691731 G C SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known silent c.519 p.G173 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 61 0 0 20 15 42.8571 DEPDC5 0 genome.wustl.edu 37 22 32242937 32242937 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 32242937 32242937 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.3139 p.M1047V 0.998 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 91 0 0 35 11 23.913 MYH9 0 genome.wustl.edu 37 22 36681986 36681986 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 36681986 36681986 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5075 p.A1692V 0.998 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 65 0 0 16 3 15.7895 CSF2RB 0 genome.wustl.edu 37 22 37329915 37329915 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 37329915 37329915 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known silent c.1212 p.A404 0.000 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 28 0 0 10 6 37.5 TRIOBP 0 genome.wustl.edu 37 22 38154108 38154108 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 38154108 38154108 G T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.6176 p.G2059V 0.824 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 78 0 0 13 17 56.6667 GCAT 0 genome.wustl.edu 37 22 38208895 38208895 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 38208895 38208895 G A SNP GCAT ENST00000248924 human ensembl 74_37 +1 known missense c.329 p.S110N 1.000 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 153 0 0 35 14 28.5714 BAIAP2L2 0 genome.wustl.edu 37 22 38483195 38483195 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 38483195 38483195 T C SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1195 p.M399V 0.008 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 47 0 0 21 2 8.69565 NPTXR 0 genome.wustl.edu 37 22 39222642 39222642 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 39222642 39222642 C T SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.961 p.A321T 0.859 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 144 0 0 47 19 28.7879 APOBEC3D 0 genome.wustl.edu 37 22 39427960 39427960 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 39427960 39427960 A G SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known missense c.1024 p.K342E 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 115 0 0 87 15 14.7059 TAB1 0 genome.wustl.edu 37 22 39817856 39817856 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 39817856 39817856 C T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known silent c.801 p.I267 0.992 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 108 0 0 31 18 36.7347 CACNA1I 0 genome.wustl.edu 37 22 40056439 40056439 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 40056439 40056439 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2713 p.G905R 0.323 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 41 0 0 8 4 33.3333 DNAJB7 0 genome.wustl.edu 37 22 41257619 41257619 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 41257619 41257619 T C SNP DNAJB7 ENST00000307221 human ensembl 74_37 -1 known missense c.380 p.Y127C 0.000 superfamily_ConA-like_lec_gl_sf pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 175 0 0 81 27 25 RRP7B 0 genome.wustl.edu 37 22 42970799 42970799 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 42970799 42970799 A G SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 0.839 - - - no_errors RRP7B HGNC ENSG00000182841 36 0 0 22 3 12 A4GALT 0 genome.wustl.edu 37 22 43089138 43089138 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 43089138 43089138 G A SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.820 p.R274C 0.962 pfam_A1-4-GlycosylTfrase_dom pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 23 0 0 6 8 57.1429 NUP50 0 genome.wustl.edu 37 22 45580379 45580379 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 45580379 45580379 C T SNP NUP50 ENST00000347635 human ensembl 74_37 +1 known missense c.1250 p.T417M 0.826 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 84 0 0 40 13 24.5283 CELSR1 0 genome.wustl.edu 37 22 46765689 46765689 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 46765689 46765689 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.7772 p.G2591D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 77 0 0 25 8 24.2424 BRD1 0 genome.wustl.edu 37 22 50169703 50169703 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 50169703 50169703 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.2833 p.A945T 0.998 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 57 0 0 18 12 40 MOV10L1 0 genome.wustl.edu 37 22 50582604 50582604 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 50582604 50582604 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known silent c.2437 p.L813 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 185 0 0 77 46 37.3984 MAPK8IP2 0 genome.wustl.edu 37 22 51043393 51043393 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 51043393 51043393 G A SNP MAPK8IP2 ENST00000329492 human ensembl 74_37 +1 known missense c.1663 p.G555S 0.002 superfamily_SH3_domain pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 54 0 0 26 7 21.2121 NIT2 0 genome.wustl.edu 37 3 100074044 100074044 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 100074044 100074044 C T SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known missense c.763 p.R255C 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 66 0 0 29 12 29.2683 ABI3BP 0 genome.wustl.edu 37 3 100621530 100621530 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 100621530 100621530 T C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.281 p.D94G 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 50 0 0 12 6 33.3333 CEP97 0 genome.wustl.edu 37 3 101477207 101477207 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 101477207 101477207 A G SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.1757 p.Y586C 0.962 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 136 0 0 59 15 20.2703 ZPLD1 0 genome.wustl.edu 37 3 102196407 102196407 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 102196407 102196407 G T SNP ZPLD1 ENST00000306176 human ensembl 74_37 +1 known missense c.1241 p.R414M 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors ZPLD1 HGNC ENSG00000170044 213 1 0.46729 122 43 26.0606 MYH15 0 genome.wustl.edu 37 3 108159966 108159966 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 108159966 108159966 G A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.2857 p.R953W 0.999 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 178 1 0.558659 83 38 31.405 DZIP3 0 genome.wustl.edu 37 3 108363342 108363342 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 108363342 108363342 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known silent c.1473 p.P491 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 145 0 0 117 9 7.14286 SLC6A1 0 genome.wustl.edu 37 3 11059528 11059528 + Splice_Site SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 11059528 11059528 G T SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known splice_site c.239-1 e2-1 1.000 - - - no_errors SLC6A1 HGNC ENSG00000157103 105 0 0 40 12 23.0769 PHLDB2 0 genome.wustl.edu 37 3 111632563 111632563 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 111632563 111632563 A G SNP PHLDB2 ENST00000477695 human ensembl 74_37 +1 putative missense c.1733 p.Q578R 0.005 NULL NULL - no_errors PHLDB2 HGNC ENSG00000144824 268 0 0 115 44 27.673 SLC9C1 0 genome.wustl.edu 37 3 111983101 111983101 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 111983101 111983101 T C SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.968 p.E323G 0.821 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 20 0 0 6 5 45.4545 BOC 0 genome.wustl.edu 37 3 112992173 112992173 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 112992173 112992173 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.1219 p.R407W 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 32 0 0 27 6 18.1818 BOC 0 genome.wustl.edu 37 3 113003371 113003371 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 113003371 113003371 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2846 p.P949L 0.008 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 44 0 0 23 12 34.2857 IGSF11 0 genome.wustl.edu 37 3 118621453 118621453 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 118621453 118621453 A G SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.1210 p.Y404H 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 123 0 0 63 32 33.6842 C3orf30 0 genome.wustl.edu 37 3 118866418 118866418 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 118866418 118866418 C T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.1382 p.A461V 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 135 0 0 56 4 6.66667 POGLUT1 0 genome.wustl.edu 37 3 119198988 119198988 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 119198988 119198988 C T SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.547 p.R183W 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 84 0 0 42 18 30 GOLGB1 0 genome.wustl.edu 37 3 121395743 121395743 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 121395743 121395743 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known silent c.9159 p.S3053 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 89 0 0 47 16 25.3968 EAF2 0 genome.wustl.edu 37 3 121554180 121554180 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 121554180 121554180 T C SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known silent c.48 p.V16 0.999 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 98 0 0 20 7 25.9259 DTX3L 0 genome.wustl.edu 37 3 122289345 122289345 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 122289345 122289345 G A SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known missense c.1979 p.R660Q 0.745 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 112 0 0 51 22 30.137 PARP14 0 genome.wustl.edu 37 3 122399864 122399864 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 122399864 122399864 G A SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.134 p.R45H 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 50 0 0 5 5 50 SEMA5B 0 genome.wustl.edu 37 3 122634315 122634315 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 122634315 122634315 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2122 p.P708T 1.000 superfamily_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 115 0 0 47 16 25.3968 HEG1 0 genome.wustl.edu 37 3 124731472 124731472 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 124731472 124731472 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.2951 p.A984V 0.951 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 44 0 0 15 5 25 MIR548I1 0 genome.wustl.edu 37 3 125509345 125509345 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 125509345 125509345 C T SNP MIR548I1 ENST00000408810 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors MIR548I1 HGNC ENSG00000221737 127 0 0 67 30 30.9278 CAND2 0 genome.wustl.edu 37 3 12856666 12856666 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 12856666 12856666 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.1033 p.D345N 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 118 0 0 39 16 29.0909 IQSEC1 0 genome.wustl.edu 37 3 12977371 12977371 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 12977371 12977371 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1187 p.S396L 0.999 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 67 0 0 24 18 42.8571 COL6A6 0 genome.wustl.edu 37 3 130346200 130346200 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 130346200 130346200 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4979 p.R1660H 0.001 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 92 0 0 56 4 6.66667 CPNE4 0 genome.wustl.edu 37 3 131388544 131388544 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 131388544 131388544 C T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.710 p.S237N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 253 0 0 79 30 27.5229 NUP210 0 genome.wustl.edu 37 3 13363299 13363299 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 13363299 13363299 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4952 p.T1651M 0.907 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 457 0 0 179 73 28.9683 DZIP1L 0 genome.wustl.edu 37 3 137822384 137822384 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 137822384 137822384 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.430 p.R144C 1.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 32 0 0 14 6 30 DZIP1L 0 genome.wustl.edu 37 3 137822423 137822423 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 137822423 137822423 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.391 p.R131C 0.170 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 21 0 0 14 7 33.3333 ARMC8 0 genome.wustl.edu 37 3 137953909 137953909 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 137953909 137953909 G T SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known missense c.562 p.G188C 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 50 0 0 33 4 10.8108 CLSTN2 0 genome.wustl.edu 37 3 140282887 140282887 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 140282887 140282887 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2567 p.R856Q 0.964 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 184 0 0 72 35 32.7103 CHST2 0 genome.wustl.edu 37 3 142840396 142840396 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 142840396 142840396 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known silent c.738 p.T246 0.928 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 47 0 0 27 11 28.9474 ZIC4 0 genome.wustl.edu 37 3 147113965 147113965 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 147113965 147113965 C T SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 88 0 0 39 22 36.0656 ZIC1 0 genome.wustl.edu 37 3 147128745 147128745 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 147128745 147128745 C A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.846 p.P282 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 187 0 0 63 18 22.2222 CPB1 0 genome.wustl.edu 37 3 148545657 148545657 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 148545657 148545657 A G SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.47 p.H16R 0.959 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 81 0 0 33 19 36.5385 HLTF 0 genome.wustl.edu 37 3 148789134 148789134 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 148789134 148789134 G A SNP HLTF ENST00000310053 human ensembl 74_37 -1 known nonsense c.799 p.R267* 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 63 0 0 33 17 34 FGD5 0 genome.wustl.edu 37 3 14964562 14964562 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 14964562 14964562 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3817 p.R1273W 1.000 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 128 0 0 34 12 26.087 FAM194A 0 genome.wustl.edu 37 3 150421356 150421356 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 150421356 150421356 G A SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known silent c.330 p.F110 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 66 0 0 21 9 30 MED12L 0 genome.wustl.edu 37 3 151112591 151112591 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 151112591 151112591 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5651 p.K1884R 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 164 0 0 61 24 28.2353 C3orf55 0 genome.wustl.edu 37 3 157296111 157296111 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 157296111 157296111 C T SNP C3orf55 ENST00000312275 human ensembl 74_37 +1 known missense c.346 p.H116Y 0.053 NULL NULL - no_errors C3orf55 HGNC ENSG00000174899 36 0 0 9 8 47.0588 ZBBX 0 genome.wustl.edu 37 3 167035316 167035316 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 167035316 167035316 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1053 p.D351 0.046 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 105 0 0 49 25 33.7838 ENSG00000270135 0 genome.wustl.edu 37 3 169511641 169511641 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 169511641 169511641 A G SNP ENSG00000270135 ENST00000602913 human ensembl 74_37 +1 known rna NULL NULL 0.067 - - - no_errors RP11-362K14.7 Clone_based_vega_gene ENSG00000270135 40 0 0 23 9 28.125 TNIK 0 genome.wustl.edu 37 3 170781609 170781609 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 170781609 170781609 T C SNP TNIK ENST00000464785 human ensembl 74_37 -1 putative rna NULL NULL 0.854 - - - no_errors TNIK HGNC ENSG00000154310 16 0 0 12 3 20 DVL3 0 genome.wustl.edu 37 3 183884401 183884401 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 183884401 183884401 A G SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.988 p.T330A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Dishevelled_fam pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 50 0 0 31 15 32.6087 ABCF3 0 genome.wustl.edu 37 3 183906039 183906039 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 183906039 183906039 G C SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.680 p.S227T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 159 0 0 70 35 33.3333 CAMK2N2 0 genome.wustl.edu 37 3 183978963 183978963 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 183978963 183978963 G A SNP CAMK2N2 ENST00000296238 human ensembl 74_37 -1 known silent c.111 p.F37 1.000 NULL NULL - no_errors CAMK2N2 HGNC ENSG00000163888 44 0 0 6 5 45.4545 AHSG 0 genome.wustl.edu 37 3 186330969 186330969 + Silent SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 186330969 186330969 C G SNP AHSG ENST00000411641 human ensembl 74_37 +1 known silent c.39 p.L13 0.741 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 69 0 0 30 4 11.7647 FETUB 0 genome.wustl.edu 37 3 186360342 186360342 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 186360342 186360342 G A SNP FETUB ENST00000265029 human ensembl 74_37 +1 known missense c.419 p.R140H 1.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 129 0 0 43 16 27.1186 BCL6 0 genome.wustl.edu 37 3 187446201 187446201 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 187446201 187446201 G A SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.1487 p.T496M 0.982 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 19 0 0 3 4 57.1429 LPP 0 genome.wustl.edu 37 3 188123973 188123973 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 188123973 188123973 G A SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.65 p.R22Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 305 0 0 102 48 32 GP5 0 genome.wustl.edu 37 3 194118562 194118562 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 194118562 194118562 C A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.450 p.E150D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 111 0 0 54 23 29.8701 ATP13A3 0 genome.wustl.edu 37 3 194150868 194150868 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 194150868 194150868 C T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.2710 p.E904K 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 54 0 0 27 9 25 ACAP2 0 genome.wustl.edu 37 3 195027343 195027343 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 195027343 195027343 C T SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1013 p.S338N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 151 0 0 61 32 34.4086 MUC4 0 genome.wustl.edu 37 3 195511154 195511154 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 195511154 195511154 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7297 p.L2433F 0.230 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 14 0 0 2 2 50 WDR53 0 genome.wustl.edu 37 3 196281462 196281462 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 196281462 196281462 G A SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known nonsense c.697 p.Q233* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 441 0 0 148 61 29.1866 CNTN4 0 genome.wustl.edu 37 3 3078979 3078979 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 3078979 3078979 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2059 p.R687C 0.899 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 433 0 0 140 36 20.4545 CRBN 0 genome.wustl.edu 37 3 3221317 3221317 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 3221317 3221317 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.55 p.P19S 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 35 0 0 13 6 31.5789 PDCD6IP 0 genome.wustl.edu 37 3 33877563 33877563 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 33877563 33877563 G A SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.877 p.A293T 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 137 0 0 52 29 35.8025 VILL 0 genome.wustl.edu 37 3 38039070 38039070 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38039070 38039070 A G SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.658 p.M220V 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 75 0 0 32 18 36 DLEC1 0 genome.wustl.edu 37 3 38159370 38159370 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38159370 38159370 T C SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.4559 p.L1520P 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 236 0 0 66 25 27.4725 SCN5A 0 genome.wustl.edu 37 3 38592496 38592496 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38592496 38592496 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.5367 p.D1789 0.991 prints_Na_channel_asu pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 134 0 0 57 23 28.75 SCN5A 0 genome.wustl.edu 37 3 38640419 38640419 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38640419 38640419 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.2013 p.S671 0.812 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 160 0 0 42 24 36.3636 SCN10A 0 genome.wustl.edu 37 3 38770179 38770179 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38770179 38770179 T C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2494 p.M832V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 89 0 0 42 23 35.3846 MYRIP 0 genome.wustl.edu 37 3 40293447 40293447 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 40293447 40293447 C A SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.2504 p.T835K 0.004 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 66 0 0 26 8 23.5294 ZNF197 0 genome.wustl.edu 37 3 44670856 44670856 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 44670856 44670856 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known nonsense c.210 p.W70* 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 134 0 0 56 26 31.7073 CLEC3B 0 genome.wustl.edu 37 3 45077264 45077264 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 45077264 45077264 G A SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known missense c.457 p.A153T 0.003 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 89 0 0 31 18 36.7347 EXOSC7 0 genome.wustl.edu 37 3 45077417 45077417 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 45077417 45077417 C T SNP EXOSC7 ENST00000481405 human ensembl 74_37 +1 putative rna NULL NULL 0.591 - - - no_errors EXOSC7 HGNC ENSG00000075914 41 0 0 21 6 22.2222 FYCO1 0 genome.wustl.edu 37 3 46011206 46011206 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 46011206 46011206 G T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.591 p.R197 0.996 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 71 0 0 22 11 33.3333 FYCO1 0 genome.wustl.edu 37 3 46014624 46014624 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 46014624 46014624 C T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.495 p.A165 0.034 pfam_Run,pfscan_Run pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 115 0 0 39 18 31.5789 NME6 0 genome.wustl.edu 37 3 48336260 48336260 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48336260 48336260 G A SNP NME6 ENST00000421967 human ensembl 74_37 -1 known missense c.452 p.A151V 0.998 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 122 0 0 49 22 30.9859 PLXNB1 0 genome.wustl.edu 37 3 48451704 48451704 + Splice_Site SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48451704 48451704 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known splice_site c.5605+1 e29+1 1.000 - - - no_errors PLXNB1 HGNC ENSG00000164050 32 0 0 22 10 31.25 CELSR3 0 genome.wustl.edu 37 3 48696997 48696997 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48696997 48696997 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3071 p.R1024Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 138 0 0 79 43 35.2459 CELSR3 0 genome.wustl.edu 37 3 48698761 48698761 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48698761 48698761 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1307 p.A436V 0.943 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 94 0 0 29 21 42 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 151 0 0 52 31 37.3494 QRICH1 0 genome.wustl.edu 37 3 49094758 49094758 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 49094758 49094758 G A SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known missense c.875 p.A292V 1.000 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 101 0 0 41 22 34.9206 CCDC36 0 genome.wustl.edu 37 3 49294662 49294662 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 49294662 49294662 A G SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.1732 p.K578E 0.032 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 289 0 0 91 47 34.058 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 220 0 0 60 42 41.1765 DOCK3 0 genome.wustl.edu 37 3 51263127 51263127 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 51263127 51263127 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1300 p.E434K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 186 0 0 62 20 24.3902 LINC00696 0 genome.wustl.edu 37 3 52097481 52097481 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 52097481 52097481 G A SNP LINC00696 ENST00000541313 human ensembl 74_37 -1 known silent c.87 p.G29 0.000 NULL NULL - no_errors LINC00696 HGNC ENSG00000256097 24 0 0 25 3 10.7143 STAB1 0 genome.wustl.edu 37 3 52539758 52539758 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 52539758 52539758 C A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1656 p.D552E 0.394 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 97 0 0 19 13 40.625 ITIH3 0 genome.wustl.edu 37 3 52839838 52839838 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 52839838 52839838 C A SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.1888 p.P630T 0.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 141 0 0 37 17 31.4815 ENSG00000271976 0 genome.wustl.edu 37 3 53894152 53894152 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 53894152 53894152 T C SNP ENSG00000271976 ENST00000607783 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-884K10.7 Clone_based_vega_gene ENSG00000271976 274 0 0 69 36 34.2857 IL17RB 0 genome.wustl.edu 37 3 53894187 53894187 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 53894187 53894187 T G SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known missense c.878 p.L293R 0.421 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 317 0 0 90 33 26.8293 WNT5A 0 genome.wustl.edu 37 3 55513442 55513442 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 55513442 55513442 C T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known silent c.291 p.A97 0.662 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 124 1 0.8 46 23 33.3333 ARHGEF3 0 genome.wustl.edu 37 3 56789047 56789047 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 56789047 56789047 T C SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.433 p.N145D 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 217 0 0 57 44 43.5644 PRICKLE2 0 genome.wustl.edu 37 3 64184616 64184616 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 64184616 64184616 G T SNP PRICKLE2 ENST00000564377 human ensembl 74_37 -1 novel silent c.156 p.P52 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 72 0 0 43 14 24.5614 ADAMTS9 0 genome.wustl.edu 37 3 64607966 64607966 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 64607966 64607966 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.2594 p.R865H 1.000 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 90 0 0 25 16 39.0244 GRM7 0 genome.wustl.edu 37 3 6903155 6903155 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 6903155 6903155 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.80 p.A27V 1.000 prints_GPCR_3_mtglu_rcpt_7 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 15 0 0 5 4 44.4444 MITF 0 genome.wustl.edu 37 3 69998213 69998213 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 69998213 69998213 G A SNP MITF ENST00000448226 human ensembl 74_37 +1 known silent c.774 p.S258 0.064 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 68 0 0 47 8 14.5455 FOXP1 0 genome.wustl.edu 37 3 71247446 71247446 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 71247446 71247446 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.87 p.C29 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 298 1 0.334448 134 11 7.58621 VGLL3 0 genome.wustl.edu 37 3 87027688 87027688 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 87027688 87027688 G T SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.391 p.P131T 1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 212 0 0 54 35 39.3258 MINA 0 genome.wustl.edu 37 3 97686167 97686167 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 97686167 97686167 T C SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.271 p.S91G 0.651 pfam_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 441 0 0 161 76 32.0675 JAGN1 0 genome.wustl.edu 37 3 9934545 9934545 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 9934545 9934545 A G SNP JAGN1 ENST00000489724 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JAGN1 HGNC ENSG00000171135 15 0 0 16 6 27.2727 DDIT4L 0 genome.wustl.edu 37 4 101108887 101108887 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 101108887 101108887 C A SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.529 p.V177F 0.999 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 113 0 0 32 13 28.8889 ZNF518B 0 genome.wustl.edu 37 4 10447795 10447795 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 10447795 10447795 G A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.158 p.A53V 0.258 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 235 0 0 117 70 37.4332 ENPEP 0 genome.wustl.edu 37 4 111474510 111474510 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 111474510 111474510 T G SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.2541 p.T847 0.973 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 154 0 0 65 28 30.1075 ARSJ 0 genome.wustl.edu 37 4 114824717 114824717 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 114824717 114824717 C T SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known silent c.513 p.T171 0.486 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 225 0 0 96 54 36 KIAA1109 0 genome.wustl.edu 37 4 123193562 123193562 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 123193562 123193562 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known splice_site c.8446+2 e46+2 0.997 - - - no_errors KIAA1109 HGNC ENSG00000138688 51 0 0 18 10 35.7143 FAT4 0 genome.wustl.edu 37 4 126372724 126372724 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 126372724 126372724 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10553 p.M3518T 0.981 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 203 0 0 100 41 29.078 PCDH10 0 genome.wustl.edu 37 4 134073510 134073510 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 134073510 134073510 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2215 p.R739C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 110 0 0 36 15 29.4118 INPP4B 0 genome.wustl.edu 37 4 143045801 143045801 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 143045801 143045801 C T SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known silent c.1833 p.A611 0.003 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 72 0 0 23 21 47.7273 HHIP 0 genome.wustl.edu 37 4 145629318 145629318 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 145629318 145629318 A G SNP HHIP ENST00000296575 human ensembl 74_37 +1 known splice_site c.1158-2 e7-2 1.000 - - - no_errors HHIP HGNC ENSG00000164161 93 0 0 55 10 15.3846 ZNF827 0 genome.wustl.edu 37 4 146791492 146791492 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 146791492 146791492 G T SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.1886 p.S629Y 0.990 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 163 0 0 46 21 31.3433 LRBA 0 genome.wustl.edu 37 4 151749605 151749605 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 151749605 151749605 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.4898 p.G1633D 0.998 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 259 0 0 128 66 34.0206 TRIM2 0 genome.wustl.edu 37 4 154191516 154191516 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 154191516 154191516 C A SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known silent c.60 p.G20 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 177 0 0 78 11 12.3596 KIAA0922 0 genome.wustl.edu 37 4 154519885 154519885 + Splice_Site SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 154519885 154519885 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known splice_site c.2266+1 e21+1 1.000 - - - no_errors KIAA0922 HGNC ENSG00000121210 38 0 0 25 18 41.8605 FSTL5 0 genome.wustl.edu 37 4 162402271 162402271 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 162402271 162402271 C A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1509 p.W503C 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 247 1 0.403226 96 10 9.43396 FSTL5 0 genome.wustl.edu 37 4 163032431 163032431 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 163032431 163032431 G A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known nonsense c.118 p.R40* 0.999 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 214 1 0.465116 81 35 30.1724 NPY5R 0 genome.wustl.edu 37 4 164272058 164272058 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 164272058 164272058 T C SNP NPY5R ENST00000338566 human ensembl 74_37 +1 known silent c.633 p.F211 0.985 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors NPY5R HGNC ENSG00000164129 175 0 0 98 54 35.5263 ANXA10 0 genome.wustl.edu 37 4 169105789 169105789 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 169105789 169105789 G A SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.863 p.R288Q 0.013 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 247 0 0 80 35 30.4348 SH3RF1 0 genome.wustl.edu 37 4 170077617 170077617 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 170077617 170077617 C A SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.607 p.A203S 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 283 0 0 103 44 29.932 GLRA3 0 genome.wustl.edu 37 4 175749958 175749958 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 175749958 175749958 G T SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.5 p.A2D 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 80 0 0 28 16 36.3636 VEGFC 0 genome.wustl.edu 37 4 177650714 177650714 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 177650714 177650714 C A SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.334 p.A112S 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 79 0 0 31 16 34.0426 NCAPG 0 genome.wustl.edu 37 4 17838908 17838908 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 17838908 17838908 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2236 p.V746I 0.002 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 92 0 0 49 24 32.8767 LETM1 0 genome.wustl.edu 37 4 1834632 1834632 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 1834632 1834632 G A SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.919 p.R307C 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 130 1 0.763359 52 29 35.8025 TENM3 0 genome.wustl.edu 37 4 183651421 183651421 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 183651421 183651421 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.2654 p.S885L 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 117 0 0 53 22 29.3333 SLIT2 0 genome.wustl.edu 37 4 20597434 20597434 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 20597434 20597434 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.3297 p.T1099 0.032 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 146 0 0 60 34 36.1702 ZFYVE28 0 genome.wustl.edu 37 4 2306441 2306441 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 2306441 2306441 G A SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known silent c.1626 p.A542 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 69 0 0 20 13 39.3939 RBPJ 0 genome.wustl.edu 37 4 26431567 26431567 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 26431567 26431567 C T SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known silent c.975 p.G325 0.061 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 85 0 0 34 10 22.7273 SH3BP2 0 genome.wustl.edu 37 4 2831861 2831861 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 2831861 2831861 C T SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known missense c.1399 p.L467F 0.008 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 37 0 0 19 6 24 PCDH7 0 genome.wustl.edu 37 4 30723161 30723161 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 30723161 30723161 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known silent c.117 p.A39 0.656 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 37 0 0 14 4 22.2222 ARAP2 0 genome.wustl.edu 37 4 36081868 36081868 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 36081868 36081868 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.4578 p.T1526 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 55 0 0 37 9 19.5652 LOC401127 0 genome.wustl.edu 37 4 39482830 39482830 + RNA SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 39482830 39482830 A C SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 120 0 0 36 16 30.7692 DCAF4L1 0 genome.wustl.edu 37 4 41984375 41984375 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 41984375 41984375 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.566 p.A189V 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 192 0 0 114 8 6.55738 GSX2 0 genome.wustl.edu 37 4 54966575 54966575 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 54966575 54966575 C G SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known missense c.64 p.L22V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 66 0 0 18 9 33.3333 C4orf6 0 genome.wustl.edu 37 4 5528018 5528018 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 5528018 5528018 T C SNP C4orf6 ENST00000195455 human ensembl 74_37 +1 known missense c.242 p.V81A 0.000 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 125 0 0 34 12 26.087 PAICS 0 genome.wustl.edu 37 4 57318172 57318172 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 57318172 57318172 G A SNP PAICS ENST00000264221 human ensembl 74_37 +1 known silent c.906 p.A302 0.092 pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 20 0 0 7 3 30 LPHN3 0 genome.wustl.edu 37 4 62845386 62845386 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 62845386 62845386 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2911 p.R971W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 339 0 0 99 42 29.7872 MAN2B2 0 genome.wustl.edu 37 4 6611012 6611012 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 6611012 6611012 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known nonsense c.1993 p.Q665* 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 59 0 0 18 8 30.7692 MFSD7 0 genome.wustl.edu 37 4 677076 677076 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 677076 677076 G A SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known silent c.1077 p.P359 0.926 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 106 0 0 48 18 27.2727 SCARB2 0 genome.wustl.edu 37 4 77095433 77095433 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 77095433 77095433 A G SNP SCARB2 ENST00000264896 human ensembl 74_37 -1 known silent c.858 p.S286 0.005 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 191 0 0 110 8 6.77966 CPLX1 0 genome.wustl.edu 37 4 780365 780365 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 780365 780365 T A SNP CPLX1 ENST00000304062 human ensembl 74_37 -1 known missense c.329 p.E110V 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 20 0 0 11 4 26.6667 THAP9 0 genome.wustl.edu 37 4 83838125 83838125 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 83838125 83838125 G T SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.760 p.G254C 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 199 0 0 88 29 24.7863 LIN54 0 genome.wustl.edu 37 4 83905920 83905920 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 83905920 83905920 A G SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known silent c.78 p.D26 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 156 0 0 70 33 32.0388 ACOX3 0 genome.wustl.edu 37 4 8401309 8401309 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 8401309 8401309 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.847 p.E283K 0.921 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 124 0 0 34 15 30.6122 NKX6-1 0 genome.wustl.edu 37 4 85414577 85414577 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 85414577 85414577 G T SNP NKX6-1 ENST00000295886 human ensembl 74_37 -1 known missense c.969 p.D323E 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 176 0 0 63 19 23.1707 FAM13A 0 genome.wustl.edu 37 4 89653284 89653284 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 89653284 89653284 G A SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.2712 p.T904 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 101 0 0 41 32 43.8356 FAM90A26 0 genome.wustl.edu 37 4 9175549 9175549 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 9175549 9175549 A G SNP FAM90A26 ENST00000432515 human ensembl 74_37 +1 known missense c.157 p.M53V 0.002 superfamily_Znf_CCHC superfamily_Znf_CCHC - no_errors FAM90A26 HGNC ENSG00000229924 19 0 0 10 13 56.5217 GRID2 0 genome.wustl.edu 37 4 94138146 94138146 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 94138146 94138146 A G SNP GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 60 0 0 35 18 33.9623 UNC5C 0 genome.wustl.edu 37 4 96140171 96140171 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 96140171 96140171 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1594 p.A532T 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 119 0 0 50 27 35.0649 ST8SIA4 0 genome.wustl.edu 37 5 100238558 100238558 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 100238558 100238558 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known silent c.102 p.T34 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 58 0 0 21 6 22.2222 PAM 0 genome.wustl.edu 37 5 102237087 102237087 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 102237087 102237087 C T SNP PAM ENST00000304400 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.995 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 43 0 0 12 3 20 MCC 0 genome.wustl.edu 37 5 112824048 112824048 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 112824048 112824048 T C SNP MCC ENST00000408903 human ensembl 74_37 -1 putative missense c.64 p.S22G 0.854 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 28 0 0 10 6 37.5 KCNN2 0 genome.wustl.edu 37 5 113698754 113698754 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 113698754 113698754 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.282 p.G94 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 33 0 0 16 7 30.4348 CTNND2 0 genome.wustl.edu 37 5 11384885 11384885 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 11384885 11384885 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1069 p.A357T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 36 0 0 7 3 30 TICAM2 0 genome.wustl.edu 37 5 114952054 114952054 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 114952054 114952054 C T SNP TICAM2 ENST00000408996 human ensembl 74_37 -1 known missense c.527 p.R176Q 1.000 pfam_GOLD pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 103 0 0 66 25 27.4725 SNX24 0 genome.wustl.edu 37 5 122272504 122272504 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 122272504 122272504 C T SNP SNX24 ENST00000261369 human ensembl 74_37 +1 known missense c.136 p.H46Y 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX24 HGNC ENSG00000064652 105 0 0 26 4 13.3333 CHSY3 0 genome.wustl.edu 37 5 129521085 129521085 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 129521085 129521085 T C SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known silent c.2250 p.Y750 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 173 0 0 90 39 30.2326 NEUROG1 0 genome.wustl.edu 37 5 134871112 134871112 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 134871112 134871112 C T SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.269 p.R90H 0.999 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 16 0 0 5 4 44.4444 SLC25A48 0 genome.wustl.edu 37 5 135186132 135186132 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 135186132 135186132 G A SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known missense c.109 p.V37I 0.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 101 0 0 40 15 27.2727 SPOCK1 0 genome.wustl.edu 37 5 136834173 136834173 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 136834173 136834173 G A SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known silent c.75 p.D25 0.971 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 19 0 0 6 5 45.4545 MYOT 0 genome.wustl.edu 37 5 137221839 137221839 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 137221839 137221839 C A SNP MYOT ENST00000239926 human ensembl 74_37 +1 known missense c.1127 p.P376H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 145 0 0 40 21 34.4262 FAM13B 0 genome.wustl.edu 37 5 137288332 137288332 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 137288332 137288332 G A SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1849 p.R617W 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 106 0 0 48 16 25 DNAH5 0 genome.wustl.edu 37 5 13729644 13729644 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 13729644 13729644 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.11787 p.A3929 0.777 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 80 0 0 52 23 30.6667 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 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 179 0 0 52 41 44.086 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 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 180 0 0 49 54 52.4272 EGR1 0 genome.wustl.edu 37 5 137802757 137802757 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 137802757 137802757 C T SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.619 p.P207S 1.000 pfam_DUF3446 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 389 0 0 123 47 27.6471 DNAH5 0 genome.wustl.edu 37 5 13809285 13809285 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 13809285 13809285 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.7620 p.T2540 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 134 0 0 57 15 20.8333 CYSTM1 0 genome.wustl.edu 37 5 139574029 139574029 + Splice_Site SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 139574029 139574029 A C SNP CYSTM1 ENST00000261811 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.962 - - - no_errors CYSTM1 HGNC ENSG00000120306 126 0 0 51 26 33.7662 PCDHA1 0 genome.wustl.edu 37 5 140167456 140167456 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140167456 140167456 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1581 p.E527 0.965 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 217 0 0 76 43 36.1345 PCDHA10 0 genome.wustl.edu 37 5 140237453 140237453 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140237453 140237453 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1820 p.S607L 0.757 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 95 0 0 34 13 27.6596 PCDHA11 0 genome.wustl.edu 37 5 140250710 140250710 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140250710 140250710 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.2022 p.A674 0.001 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 105 0 0 33 13 28.2609 PCDHA12 0 genome.wustl.edu 37 5 140256956 140256956 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140256956 140256956 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1899 p.T633 0.351 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 142 0 0 56 25 30.8642 PCDHA13 0 genome.wustl.edu 37 5 140261916 140261916 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140261916 140261916 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 264 0 0 120 49 28.9941 PCDHA13 0 genome.wustl.edu 37 5 140263419 140263419 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140263419 140263419 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1566 p.P522 0.903 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 264 0 0 102 48 32 PCDHAC1 0 genome.wustl.edu 37 5 140307012 140307012 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140307012 140307012 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.535 p.G179S 0.735 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 160 0 0 57 9 13.6364 PCDHAC2 0 genome.wustl.edu 37 5 140348078 140348078 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140348078 140348078 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1727 p.A576V 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 70 0 0 46 24 34.2857 PCDHAC2 0 genome.wustl.edu 37 5 140348558 140348558 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140348558 140348558 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.2207 p.A736V 0.923 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 104 0 0 43 11 20.3704 PCDHB3 0 genome.wustl.edu 37 5 140482079 140482079 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140482079 140482079 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1846 p.G616S 0.778 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 PCDHB3 HGNC ENSG00000113205 185 1 0.537634 78 30 27.7778 PCDHB12 0 genome.wustl.edu 37 5 140590138 140590138 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140590138 140590138 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1659 p.D553 0.635 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 145 0 0 50 26 34.2105 PCDHGA5 0 genome.wustl.edu 37 5 140745565 140745565 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140745565 140745565 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.1668 p.N556 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 378 1 0.263852 153 52 25.3659 PCDHGB6 0 genome.wustl.edu 37 5 140787998 140787998 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140787998 140787998 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.229 p.V77I 0.269 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 163 0 0 73 26 26.2626 PCDHGA10 0 genome.wustl.edu 37 5 140795118 140795118 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140795118 140795118 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.2376 p.N792 0.864 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 151 0 0 75 24 24.2424 DIAPH1 0 genome.wustl.edu 37 5 140953109 140953109 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140953109 140953109 T G SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.2308 p.K770Q 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 159 0 0 38 27 41.5385 DIAPH1 0 genome.wustl.edu 37 5 140958108 140958108 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140958108 140958108 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.1018 p.R340C 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 195 0 0 73 28 27.7228 ARAP3 0 genome.wustl.edu 37 5 141044603 141044603 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 141044603 141044603 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.2686 p.A896T 0.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 37 0 0 16 8 33.3333 CSF1R 0 genome.wustl.edu 37 5 149449476 149449476 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 149449476 149449476 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.1470 p.S490 0.002 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,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 - no_errors CSF1R HGNC ENSG00000182578 92 0 0 24 11 31.4286 ZNF300P1 0 genome.wustl.edu 37 5 150310338 150310338 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 150310338 150310338 A G SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.543 - - - no_errors ZNF300P1 HGNC ENSG00000197083 14 0 0 4 5 55.5556 NMUR2 0 genome.wustl.edu 37 5 151783947 151783947 + Splice_Site SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 151783947 151783947 A G SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known splice_site c.726+2 e1+2 1.000 - - - no_errors NMUR2 HGNC ENSG00000132911 125 0 0 49 18 26.8657 GRIA1 0 genome.wustl.edu 37 5 152873616 152873616 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 152873616 152873616 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.241 p.T81A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 96 0 0 45 17 27.4194 KIF4B 0 genome.wustl.edu 37 5 154394713 154394713 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 154394713 154394713 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.1294 p.A432T 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 161 0 0 66 32 32.6531 KIF4B 0 genome.wustl.edu 37 5 154396039 154396039 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 154396039 154396039 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known silent c.2620 p.L874 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 90 0 0 29 15 34.0909 SOX30 0 genome.wustl.edu 37 5 157078494 157078494 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 157078494 157078494 C T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.593 p.G198D 0.011 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 215 1 0.462963 86 30 25.8621 TENM2 0 genome.wustl.edu 37 5 167674064 167674064 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 167674064 167674064 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.6120 p.F2040 0.890 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 140 0 0 76 35 31.5315 RARS 0 genome.wustl.edu 37 5 167929052 167929052 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 167929052 167929052 A G SNP RARS ENST00000231572 human ensembl 74_37 +1 known silent c.999 p.R333 0.962 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 142 1 0.699301 67 26 27.957 GPRIN1 0 genome.wustl.edu 37 5 176025652 176025652 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 176025652 176025652 G A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known missense c.1184 p.T395M 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 72 0 0 45 28 38.3562 RMND5B 0 genome.wustl.edu 37 5 177574760 177574760 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 177574760 177574760 T C SNP RMND5B ENST00000313386 human ensembl 74_37 +1 known missense c.994 p.Y332H 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 208 0 0 69 43 38.3929 TBC1D9B 0 genome.wustl.edu 37 5 179318408 179318408 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 179318408 179318408 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1015 p.A339T 0.005 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 110 0 0 49 22 30.9859 FLT4 0 genome.wustl.edu 37 5 180048658 180048658 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 180048658 180048658 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1904 p.T635M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_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 46 0 0 30 12 28.5714 TRIM7 0 genome.wustl.edu 37 5 180622403 180622403 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 180622403 180622403 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known nonsense c.1299 p.W433* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 19 0 0 8 3 27.2727 CDH12 0 genome.wustl.edu 37 5 22078833 22078833 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 22078833 22078833 C T SNP CDH12 ENST00000518209 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CDH12 HGNC ENSG00000154162 50 0 0 43 17 28.3333 CDH10 0 genome.wustl.edu 37 5 24511519 24511519 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 24511519 24511519 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known nonsense c.919 p.R307* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 147 0 0 66 45 40.5405 CDH9 0 genome.wustl.edu 37 5 26902626 26902626 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 26902626 26902626 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1212 p.Q404H 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 137 0 0 41 21 33.871 IRX2 0 genome.wustl.edu 37 5 2749519 2749519 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 2749519 2749519 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.632 p.T211M 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 71 0 0 33 20 37.7358 DROSHA 0 genome.wustl.edu 37 5 31526816 31526816 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 31526816 31526816 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.224 p.R75Q 0.711 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 43 0 0 9 3 25 OXCT1 0 genome.wustl.edu 37 5 41850186 41850186 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 41850186 41850186 C T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known silent c.510 p.S170 0.371 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 111 0 0 50 19 27.5362 OXCT1 0 genome.wustl.edu 37 5 41853524 41853524 + Silent SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 41853524 41853524 T A SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known silent c.411 p.P137 0.634 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 74 0 0 31 14 31.1111 AHRR 0 genome.wustl.edu 37 5 424011 424011 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 424011 424011 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.639 p.T213 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 100 0 0 31 11 26.1905 ADAMTS16 0 genome.wustl.edu 37 5 5306750 5306750 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 5306750 5306750 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3320 p.R1107H 0.117 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 85 0 0 36 14 28 DEPDC1B 0 genome.wustl.edu 37 5 59940657 59940657 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 59940657 59940657 G A SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known silent c.624 p.D208 0.110 pfscan_RhoGAP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 58 0 0 15 15 50 CEP72 0 genome.wustl.edu 37 5 640665 640665 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 640665 640665 C T SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known silent c.1485 p.H495 0.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 71 0 0 33 18 35.2941 ADAMTS6 0 genome.wustl.edu 37 5 64595832 64595832 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 64595832 64595832 G A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known silent c.1350 p.D450 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 90 0 0 38 16 29.6296 MARVELD2 0 genome.wustl.edu 37 5 68715652 68715652 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 68715652 68715652 G A SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known missense c.440 p.R147Q 0.154 NULL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 77 0 0 41 21 33.871 MAP1B 0 genome.wustl.edu 37 5 71490660 71490660 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 71490660 71490660 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.1478 p.S493N 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 142 0 0 70 10 12.5 POC5 0 genome.wustl.edu 37 5 74981154 74981154 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 74981154 74981154 C T SNP POC5 ENST00000428202 human ensembl 74_37 -1 known missense c.1285 p.A429T 0.000 NULL NULL - no_errors POC5 HGNC ENSG00000152359 142 0 0 48 20 29.4118 CMYA5 0 genome.wustl.edu 37 5 79028654 79028654 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 79028654 79028654 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.4066 p.A1356T 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 60 0 0 22 5 18.5185 HAPLN1 0 genome.wustl.edu 37 5 82940274 82940274 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 82940274 82940274 C G SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.683 p.G228A 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 125 0 0 58 14 19.4444 TRIP13 0 genome.wustl.edu 37 5 896840 896840 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 896840 896840 C A SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known missense c.319 p.P107T 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 65 0 0 31 17 35.4167 GPR98 0 genome.wustl.edu 37 5 89979908 89979908 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 89979908 89979908 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.6170 p.T2057I 0.108 pfam_Calx_beta,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 102 0 0 45 16 26.2295 SEMA5A 0 genome.wustl.edu 37 5 9136646 9136646 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 9136646 9136646 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.1569 p.T523 0.564 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 51 0 0 27 10 27.027 CCNC 0 genome.wustl.edu 37 6 100009286 100009286 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 100009286 100009286 A G SNP CCNC ENST00000520429 human ensembl 74_37 -1 known missense c.251 p.V84A 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 122 0 0 56 25 30.8642 SIM1 0 genome.wustl.edu 37 6 100896393 100896393 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 100896393 100896393 G A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.705 p.R235 0.977 superfamily_PAS,smart_PAS,pfscan_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 56 0 0 17 4 19.0476 HACE1 0 genome.wustl.edu 37 6 105233031 105233031 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 105233031 105233031 G T SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.1238 p.P413H 0.998 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 100 1 0.990099 54 17 23.9437 SCML4 0 genome.wustl.edu 37 6 108067996 108067996 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 108067996 108067996 C T SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known silent c.297 p.S99 0.004 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 140 0 0 62 30 32.6087 FOXO3 0 genome.wustl.edu 37 6 108985055 108985055 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 108985055 108985055 A G SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.1019 p.D340G 0.952 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 83 0 0 41 18 30.5085 ZNF259P1 0 genome.wustl.edu 37 6 109107806 109107806 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 109107806 109107806 T C SNP ZNF259P1 ENST00000572422 human ensembl 74_37 -1 known rna NULL NULL 0.331 - - - no_errors ZNF259P1 HGNC ENSG00000219565 127 0 0 53 20 27.3973 AMD1 0 genome.wustl.edu 37 6 111213388 111213388 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 111213388 111213388 G A SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known missense c.452 p.R151H 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 288 0 0 118 54 31.3953 FAM162B 0 genome.wustl.edu 37 6 117086374 117086374 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 117086374 117086374 C T SNP FAM162B ENST00000368557 human ensembl 74_37 -1 known missense c.217 p.D73N 1.000 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 96 0 0 43 11 20.3704 HIVEP1 0 genome.wustl.edu 37 6 12122840 12122840 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 12122840 12122840 A G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2812 p.K938E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 92 0 0 55 16 22.5352 NKAIN2 0 genome.wustl.edu 37 6 124676492 124676492 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 124676492 124676492 A G SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known missense c.272 p.K91R 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 152 0 0 66 19 22.3529 SOGA3 0 genome.wustl.edu 37 6 127837736 127837736 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 127837736 127837736 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.24 p.G8 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 24 0 0 15 4 21.0526 TMEM244 0 genome.wustl.edu 37 6 130164743 130164743 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 130164743 130164743 T C SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known missense c.125 p.H42R 0.008 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 203 0 0 51 25 32.8947 FOXQ1 0 genome.wustl.edu 37 6 1313402 1313402 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 1313402 1313402 T C SNP FOXQ1 ENST00000296839 human ensembl 74_37 +1 known missense c.463 p.F155L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC ENSG00000164379 112 0 0 24 7 22.5806 ALDH8A1 0 genome.wustl.edu 37 6 135239672 135239672 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 135239672 135239672 G A SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1345 p.L449F 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 82 0 0 30 14 31.8182 SLC35D3 0 genome.wustl.edu 37 6 137243721 137243721 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 137243721 137243721 C T SNP SLC35D3 ENST00000331858 human ensembl 74_37 +1 known missense c.155 p.A52V 0.997 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D3 HGNC ENSG00000182747 47 0 0 13 7 35 FBXO30 0 genome.wustl.edu 37 6 146121412 146121412 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 146121412 146121412 T C SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known missense c.2068 p.N690D 0.998 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 124 0 0 40 26 39.3939 GRM1 0 genome.wustl.edu 37 6 146720412 146720412 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 146720412 146720412 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2237 p.C746Y 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 135 0 0 83 25 23.1481 CCDC170 0 genome.wustl.edu 37 6 151859310 151859310 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 151859310 151859310 A G SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.317 p.Q106R 0.988 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 110 0 0 35 15 30 RSPH3 0 genome.wustl.edu 37 6 159403612 159403612 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 159403612 159403612 G A SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.1027 p.R343W 0.939 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 64 0 0 25 18 41.8605 GMPR 0 genome.wustl.edu 37 6 16290717 16290717 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 16290717 16290717 T C SNP GMPR ENST00000259727 human ensembl 74_37 +1 known missense c.722 p.L241P 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 396 0 0 157 72 31.441 FAM120B 0 genome.wustl.edu 37 6 170627293 170627293 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 170627293 170627293 C T SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known missense c.884 p.S295L 0.408 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 153 0 0 37 31 45.5882 KAAG1 0 genome.wustl.edu 37 6 24358032 24358032 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 24358032 24358032 G A SNP KAAG1 ENST00000274766 human ensembl 74_37 +1 known silent c.165 p.P55 0.009 NULL NULL - no_errors KAAG1 HGNC ENSG00000146049 96 0 0 20 11 35.4839 LRRC16A 0 genome.wustl.edu 37 6 25600967 25600967 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 25600967 25600967 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3545 p.A1182V 0.206 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 27 0 0 11 4 26.6667 SLC17A3 0 genome.wustl.edu 37 6 25851024 25851024 + Nonsense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 25851024 25851024 G T SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known nonsense c.794 p.S265* 0.224 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 82 0 0 40 17 29.8246 HIST1H1T 0 genome.wustl.edu 37 6 26108175 26108175 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 26108175 26108175 G A SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known silent c.147 p.T49 0.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 119 0 0 51 22 30.137 HIST1H2BC 0 genome.wustl.edu 37 6 26124113 26124113 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 26124113 26124113 G A SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known missense c.20 p.S7F 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 181 0 0 70 38 35.1852 HIST1H2AJ 0 genome.wustl.edu 37 6 27782430 27782430 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 27782430 27782430 C A SNP HIST1H2AJ ENST00000333151 human ensembl 74_37 -1 known missense c.89 p.R30L 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AJ HGNC ENSG00000182611 70 0 0 20 14 41.1765 ZSCAN16 0 genome.wustl.edu 37 6 28097417 28097417 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 28097417 28097417 A G SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.736 p.S246G 0.870 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 115 0 0 37 23 38.3333 OR12D3 0 genome.wustl.edu 37 6 29342456 29342456 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29342456 29342456 G A SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known silent c.609 p.S203 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 134 0 0 41 28 40.5797 OR12D3 0 genome.wustl.edu 37 6 29342488 29342488 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29342488 29342488 T C SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known missense c.577 p.N193D 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 142 0 0 53 22 29.3333 GABBR1 0 genome.wustl.edu 37 6 29574229 29574229 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29574229 29574229 A G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known silent c.2250 p.I750 0.926 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 185 0 0 57 24 29.6296 HLA-F 0 genome.wustl.edu 37 6 29691261 29691261 + Silent SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29691261 29691261 C G SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known silent c.21 p.L7 0.006 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 117 0 0 32 11 25.5814 HLA-F 0 genome.wustl.edu 37 6 29692211 29692211 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29692211 29692211 C T SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.596 p.T199M 0.973 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 62 0 0 41 16 28.0702 HLA-E 0 genome.wustl.edu 37 6 30459139 30459139 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 30459139 30459139 C T SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.836 p.T279M 0.998 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 149 0 0 53 33 38.3721 HCG27 0 genome.wustl.edu 37 6 31170660 31170660 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31170660 31170660 C A SNP HCG27 ENST00000415276 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HCG27 HGNC ENSG00000206344 123 0 0 42 22 34.375 HLA-C 0 genome.wustl.edu 37 6 31239468 31239468 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31239468 31239468 C T SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known nonsense c.251 p.W84* 0.878 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 122 0 0 35 17 32.6923 HLA-B 0 genome.wustl.edu 37 6 31323266 31323266 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31323266 31323266 C T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known nonsense c.723 p.W241* 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 214 1 0.465116 82 38 31.6667 MICB 0 genome.wustl.edu 37 6 31474138 31474138 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31474138 31474138 G A SNP MICB ENST00000252229 human ensembl 74_37 +1 known missense c.544 p.A182T 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICB HGNC ENSG00000204516 84 0 0 25 20 44.4444 NEU1 0 genome.wustl.edu 37 6 31829063 31829063 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31829063 31829063 A G SNP NEU1 ENST00000375631 human ensembl 74_37 -1 known missense c.517 p.W173R 0.619 superfamily_Sialidases superfamily_Sialidases - no_errors NEU1 HGNC ENSG00000204386 133 0 0 58 23 28.3951 SLC44A4 0 genome.wustl.edu 37 6 31831489 31831489 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31831489 31831489 C A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.2048 p.R683L 0.998 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 54 0 0 12 10 45.4545 TNXB 0 genome.wustl.edu 37 6 32015672 32015672 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 32015672 32015672 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.10157 p.Q3386R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 60 0 0 37 11 22.9167 TNXB 0 genome.wustl.edu 37 6 32036822 32036822 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 32036822 32036822 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.5679 p.T1893 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 96 0 0 46 18 28.125 FKBPL 0 genome.wustl.edu 37 6 32097454 32097454 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 32097454 32097454 A C SNP FKBPL ENST00000375156 human ensembl 74_37 -1 known missense c.104 p.I35S 0.012 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 78 0 0 32 11 25.5814 COL11A2 0 genome.wustl.edu 37 6 33132135 33132135 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 33132135 33132135 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.4979 p.R1660H 0.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 54 0 0 15 5 25 SLC39A7 0 genome.wustl.edu 37 6 33170084 33170084 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 33170084 33170084 A G SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.679 p.I227V 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 137 0 0 75 26 25.7426 SCUBE3 0 genome.wustl.edu 37 6 35216468 35216468 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 35216468 35216468 A G SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.3016 p.R1006G 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 232 0 0 78 33 29.7297 BRPF3 0 genome.wustl.edu 37 6 36177640 36177640 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 36177640 36177640 T C SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.1814 p.L605P 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 78 0 0 24 16 40 DNAH8 0 genome.wustl.edu 37 6 38897349 38897349 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 38897349 38897349 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.10530 p.R3510 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 140 0 0 73 17 18.8889 UNC5CL 0 genome.wustl.edu 37 6 41002503 41002503 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 41002503 41002503 G A SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.311 p.S104L 0.333 smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 176 0 0 57 42 42.4242 FOXP4 0 genome.wustl.edu 37 6 41566656 41566656 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 41566656 41566656 G A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known silent c.2025 p.P675 0.120 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 28 0 0 4 2 33.3333 TRERF1 0 genome.wustl.edu 37 6 42231247 42231247 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 42231247 42231247 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.1695 p.P565 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 91 0 0 40 14 25.9259 ABCC10 0 genome.wustl.edu 37 6 43401046 43401046 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 43401046 43401046 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.1328 p.R443H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 53 0 0 26 7 21.2121 MEP1A 0 genome.wustl.edu 37 6 46797282 46797282 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 46797282 46797282 A C SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.1118 p.K373T 1.000 pirsf_Pept_M12A_Meprin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 245 0 0 91 26 22.2222 GPR110 0 genome.wustl.edu 37 6 46976905 46976905 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 46976905 46976905 C T SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.2266 p.A756T 0.724 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 113 0 0 34 14 29.1667 PKHD1 0 genome.wustl.edu 37 6 51889477 51889477 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 51889477 51889477 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.5131 p.A1711T 0.543 superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 104 0 0 38 17 30.9091 PKHD1 0 genome.wustl.edu 37 6 51934317 51934317 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 51934317 51934317 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.716 p.V239G 0.137 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 239 0 0 87 22 20.1835 HCRTR2 0 genome.wustl.edu 37 6 55128600 55128600 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 55128600 55128600 C T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.742 p.R248C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 62 0 0 23 10 30.303 NRN1 0 genome.wustl.edu 37 6 6002702 6002702 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 6002702 6002702 C T SNP NRN1 ENST00000244766 human ensembl 74_37 -1 known silent c.84 p.A28 0.971 NULL NULL - no_errors NRN1 HGNC ENSG00000124785 77 0 0 36 15 29.4118 KHDRBS2 0 genome.wustl.edu 37 6 62442601 62442601 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 62442601 62442601 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.879 p.A293 0.457 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 113 0 0 48 12 20 KHDRBS2 0 genome.wustl.edu 37 6 62757868 62757868 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 62757868 62757868 C A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.251 p.R84I 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 148 0 0 58 27 31.7647 EYS 0 genome.wustl.edu 37 6 66115078 66115078 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 66115078 66115078 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1045 p.K349E 0.000 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 88 0 0 61 11 15.2778 B3GAT2 0 genome.wustl.edu 37 6 71603915 71603915 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 71603915 71603915 C T SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.652 p.E218K 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 96 0 0 47 17 26.5625 B3GAT2 0 genome.wustl.edu 37 6 71603921 71603921 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 71603921 71603921 G A SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.646 p.R216C 0.993 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 92 0 0 43 18 29.5082 RREB1 0 genome.wustl.edu 37 6 7229265 7229265 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 7229265 7229265 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.933 p.S311 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 51 0 0 20 8 28.5714 RIMS1 0 genome.wustl.edu 37 6 72892050 72892050 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 72892050 72892050 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.876 p.R292 0.985 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 67 0 0 25 16 39.0244 OOEP-AS1 0 genome.wustl.edu 37 6 74079648 74079648 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 74079648 74079648 G A SNP OOEP-AS1 ENST00000445350 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OOEP-AS1 HGNC ENSG00000231332 17 0 0 10 5 33.3333 CD109 0 genome.wustl.edu 37 6 74476679 74476679 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 74476679 74476679 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.1443 p.S481 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 87 0 0 39 13 25 BMP6 0 genome.wustl.edu 37 6 7727469 7727469 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 7727469 7727469 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.281 p.R94Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 24 0 0 7 7 50 BMP6 0 genome.wustl.edu 37 6 7727519 7727519 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 7727519 7727519 G C SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.331 p.E111Q 0.947 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 26 0 0 7 4 36.3636 PHIP 0 genome.wustl.edu 37 6 79700597 79700597 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 79700597 79700597 G T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.2307 p.P769 0.962 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 87 0 0 28 8 22.2222 TTK 0 genome.wustl.edu 37 6 80724229 80724229 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 80724229 80724229 G A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1034 p.S345N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 87 0 0 57 30 34.4828 DOPEY1 0 genome.wustl.edu 37 6 83841932 83841932 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 83841932 83841932 G T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.2654 p.G885V 0.988 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 175 0 0 64 22 25.5814 ME1 0 genome.wustl.edu 37 6 83921763 83921763 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 83921763 83921763 C T SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1599 p.P533 0.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 129 0 0 45 15 25 SNAP91 0 genome.wustl.edu 37 6 84368775 84368775 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 84368775 84368775 C G SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.489 p.K163N 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 23 0 0 4 3 42.8571 SMIM8 0 genome.wustl.edu 37 6 88049878 88049878 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 88049878 88049878 C T SNP SMIM8 ENST00000229570 human ensembl 74_37 +1 known silent c.180 p.C60 0.532 NULL NULL - no_errors SMIM8 HGNC ENSG00000111850 71 0 0 36 7 16.2791 MDN1 0 genome.wustl.edu 37 6 90428705 90428705 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 90428705 90428705 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.6102 p.P2034 0.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 103 0 0 36 19 34.5455 MANEA 0 genome.wustl.edu 37 6 96034417 96034417 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 96034417 96034417 T C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known silent c.102 p.A34 0.248 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 106 1 0.934579 43 20 31.746 MEPCE 0 genome.wustl.edu 37 7 100028980 100028980 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100028980 100028980 G A SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.1339 p.V447I 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 86 0 0 35 11 23.913 ZAN 0 genome.wustl.edu 37 7 100355909 100355909 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100355909 100355909 T C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.3394 p.C1132R 0.612 smart_VWC_out pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 73 0 0 27 10 27.027 MUC17 0 genome.wustl.edu 37 7 100675194 100675194 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100675194 100675194 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.497 p.T166N 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 320 0 0 162 65 28.6344 MUC17 0 genome.wustl.edu 37 7 100680858 100680858 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100680858 100680858 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6161 p.T2054M 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 306 0 0 182 79 30.2682 TRIM56 0 genome.wustl.edu 37 7 100731710 100731710 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100731710 100731710 C G SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1117 p.Q373E 0.957 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 39 0 0 19 6 24 NAT16 0 genome.wustl.edu 37 7 100816741 100816741 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 100816741 100816741 G A SNP NAT16 ENST00000300303 human ensembl 74_37 -1 known missense c.373 p.R125C 0.987 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 50 0 0 22 9 29.0323 LRRC17 0 genome.wustl.edu 37 7 102574474 102574474 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 102574474 102574474 C T SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known silent c.114 p.G38 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 74 0 0 30 16 34.7826 RELN 0 genome.wustl.edu 37 7 103183268 103183268 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 103183268 103183268 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6581 p.C2194Y 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 115 0 0 55 27 32.9268 BCAP29 0 genome.wustl.edu 37 7 107253787 107253787 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 107253787 107253787 G T SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.600 p.K200N 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 72 0 0 31 13 29.5455 PNPLA8 0 genome.wustl.edu 37 7 108112874 108112874 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 108112874 108112874 C T SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.2320 p.E774K 1.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 30 0 0 12 7 36.8421 DOCK4 0 genome.wustl.edu 37 7 111368509 111368509 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 111368509 111368509 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5749 p.R1917W 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 95 0 0 27 14 34.1463 DOCK4 0 genome.wustl.edu 37 7 111409634 111409634 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 111409634 111409634 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3779 p.R1260H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 92 0 0 54 4 6.89655 THSD7A 0 genome.wustl.edu 37 7 11464332 11464332 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 11464332 11464332 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.3374 p.R1125Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 281 0 0 93 52 35.8621 ASZ1 0 genome.wustl.edu 37 7 117067503 117067503 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 117067503 117067503 G A SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known silent c.12 p.S4 0.000 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 124 0 0 39 36 48 PTPRZ1 0 genome.wustl.edu 37 7 121650445 121650445 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 121650445 121650445 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1345 p.S449R 0.084 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 236 0 0 59 33 35.8696 TMEM106B 0 genome.wustl.edu 37 7 12263867 12263867 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 12263867 12263867 G T SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known missense c.297 p.M99I 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 311 0 0 119 46 27.8788 SLC13A1 0 genome.wustl.edu 37 7 122809288 122809288 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 122809288 122809288 T C SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.467 p.Q156R 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 59 0 0 25 21 45.6522 SLC13A1 0 genome.wustl.edu 37 7 122839969 122839969 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 122839969 122839969 C T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.32 p.R11H 0.990 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 51 0 0 26 4 13.3333 UNCX 0 genome.wustl.edu 37 7 1273302 1273302 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 1273302 1273302 C T SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.421 p.R141C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 118 0 0 37 8 17.7778 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 122 0 0 41 18 30.5085 FLNC 0 genome.wustl.edu 37 7 128475415 128475415 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 128475415 128475415 A G SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.388 p.I130V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 195 0 0 47 30 38.961 ENSG00000242902 0 genome.wustl.edu 37 7 128493423 128493423 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 128493423 128493423 C T SNP ENSG00000242902 ENST00000469965 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-309L24.2 Clone_based_vega_gene ENSG00000242902 11 0 0 8 6 42.8571 SMO 0 genome.wustl.edu 37 7 128843389 128843389 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 128843389 128843389 T C SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.496 p.F166L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 29 0 0 7 5 41.6667 STRIP2 0 genome.wustl.edu 37 7 129091546 129091546 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 129091546 129091546 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.367 p.R123W 0.872 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 70 0 0 22 14 38.8889 KLHDC10 0 genome.wustl.edu 37 7 129764312 129764312 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 129764312 129764312 T C SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known silent c.801 p.H267 1.000 pfam_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 127 0 0 29 14 32.5581 EXOC4 0 genome.wustl.edu 37 7 133314872 133314872 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 133314872 133314872 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.1492 p.V498I 0.916 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 98 0 0 49 20 28.9855 AKR1B10 0 genome.wustl.edu 37 7 134222385 134222385 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 134222385 134222385 C T SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known missense c.713 p.A238V 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 165 0 0 60 29 32.5843 NUP205 0 genome.wustl.edu 37 7 135269638 135269638 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 135269638 135269638 C T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.1101 p.N367 0.999 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 59 0 0 23 8 25.8065 MIR490 0 genome.wustl.edu 37 7 136588087 136588087 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 136588087 136588087 T C SNP MIR490 ENST00000608269 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 54 0 0 22 12 35.2941 PTN 0 genome.wustl.edu 37 7 136938212 136938212 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 136938212 136938212 G A SNP PTN ENST00000348225 human ensembl 74_37 -1 known silent c.288 p.G96 1.000 pfam_PTN/MK_C_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 137 0 0 66 6 8.33333 KIAA1549 0 genome.wustl.edu 37 7 138602550 138602550 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 138602550 138602550 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.1822 p.R608C 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 17 0 0 11 3 21.4286 KLRG2 0 genome.wustl.edu 37 7 139168108 139168108 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 139168108 139168108 G T SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known missense c.281 p.P94Q 0.886 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 12 0 0 6 5 45.4545 RAB19 0 genome.wustl.edu 37 7 140110830 140110830 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 140110830 140110830 A C SNP RAB19 ENST00000275874 human ensembl 74_37 +1 known missense c.259 p.K87Q 0.000 pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAB19 HGNC ENSG00000146955 312 0 0 82 41 33.3333 MGAM 0 genome.wustl.edu 37 7 141776043 141776043 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 141776043 141776043 T G SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.5316 p.S1772 0.058 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 88 0 0 9 24 72.7273 EPHB6 0 genome.wustl.edu 37 7 142561866 142561866 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 142561866 142561866 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.308 p.A103V 0.382 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 291 0 0 97 53 35.3333 EPHB6 0 genome.wustl.edu 37 7 142566026 142566026 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 142566026 142566026 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1946 p.S649F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 140 0 0 53 21 28.3784 OR6W1P 0 genome.wustl.edu 37 7 142759847 142759847 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 142759847 142759847 A G SNP OR6W1P ENST00000496192 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors OR6W1P HGNC ENSG00000179420 11 0 0 3 3 50 OR2F2 0 genome.wustl.edu 37 7 143633262 143633262 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 143633262 143633262 T C SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.937 p.S313P 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 71 0 0 23 11 32.3529 ARHGEF5 0 genome.wustl.edu 37 7 144068398 144068398 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 144068398 144068398 C T SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known nonsense c.3676 p.R1226* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 70 0 0 51 8 13.5593 LRRC61 0 genome.wustl.edu 37 7 150034532 150034532 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 150034532 150034532 C T SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known silent c.582 p.T194 0.000 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 35 0 0 13 10 43.4783 GIMAP8 0 genome.wustl.edu 37 7 150174600 150174600 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 150174600 150174600 A T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1730 p.D577V 0.271 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 205 0 0 58 31 34.8315 ASB10 0 genome.wustl.edu 37 7 150883953 150883953 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 150883953 150883953 T C SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.400 p.T134A 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 42 0 0 16 5 23.8095 ABCF2 0 genome.wustl.edu 37 7 150911168 150911168 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 150911168 150911168 T G SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.1844 p.Q615P 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 70 0 0 26 18 40.9091 GALNT11 0 genome.wustl.edu 37 7 151810418 151810418 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 151810418 151810418 G A SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known missense c.1168 p.E390K 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 187 0 0 68 34 33.3333 KMT2C 0 genome.wustl.edu 37 7 152027709 152027709 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 152027709 152027709 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.366 p.S122 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 143 0 0 91 5 5.20833 INTS1 0 genome.wustl.edu 37 7 1535865 1535865 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 1535865 1535865 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2022 p.A674 0.157 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 90 0 0 32 12 27.2727 SHH 0 genome.wustl.edu 37 7 155604760 155604760 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 155604760 155604760 G A SNP SHH ENST00000297261 human ensembl 74_37 -1 known silent c.57 p.C19 1.000 pirsf_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 220 0 0 56 36 39.1304 ITGB8 0 genome.wustl.edu 37 7 20449502 20449502 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 20449502 20449502 A G SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.2192 p.K731R 1.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 138 0 0 53 24 31.1688 DNAH11 0 genome.wustl.edu 37 7 21583118 21583118 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 21583118 21583118 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.255 p.D85 0.043 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 16 0 0 6 4 40 NUDT1 0 genome.wustl.edu 37 7 2289590 2289590 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 2289590 2289590 A G SNP NUDT1 ENST00000343985 human ensembl 74_37 +1 known missense c.320 p.H107R 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC ENSG00000106268 161 0 0 50 25 33.3333 CHST12 0 genome.wustl.edu 37 7 2473447 2473447 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 2473447 2473447 G A SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.1173 p.Q391 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 114 0 0 35 15 30 GARS 0 genome.wustl.edu 37 7 30638425 30638425 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 30638425 30638425 G A SNP GARS ENST00000389266 human ensembl 74_37 +1 known missense c.236 p.R79Q 1.000 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 82 0 0 22 14 38.8889 ELMO1 0 genome.wustl.edu 37 7 37298811 37298811 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 37298811 37298811 T G SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.388 p.T130P 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 62 0 0 21 12 36.3636 INHBA 0 genome.wustl.edu 37 7 41739849 41739849 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 41739849 41739849 C T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.124 p.A42T 0.022 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 569 0 0 184 73 28.4047 GLI3 0 genome.wustl.edu 37 7 42004496 42004496 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 42004496 42004496 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4175 p.S1392N 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 121 0 0 45 17 27.4194 C7orf25 0 genome.wustl.edu 37 7 42949407 42949407 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 42949407 42949407 C T SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.1267 p.G423R 1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 94 0 0 45 25 35.7143 DBNL 0 genome.wustl.edu 37 7 44091460 44091460 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 44091460 44091460 C T SNP DBNL ENST00000468694 human ensembl 74_37 +1 known silent c.171 p.L57 0.999 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 89 0 0 25 11 30.5556 NPC1L1 0 genome.wustl.edu 37 7 44579933 44579933 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 44579933 44579933 A G SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.63 p.S21 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 88 0 0 18 6 25 CCM2 0 genome.wustl.edu 37 7 45115439 45115439 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 45115439 45115439 G A SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known missense c.1181 p.G394D 1.000 NULL pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 72 0 0 39 11 22 ADCY1 0 genome.wustl.edu 37 7 45743274 45743274 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 45743274 45743274 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2647 p.E883K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 180 0 0 66 26 28.2609 SLC29A4 0 genome.wustl.edu 37 7 5336805 5336805 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 5336805 5336805 C T SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.858 p.D286 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 65 0 0 19 8 29.6296 FSCN1 0 genome.wustl.edu 37 7 5644943 5644943 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 5644943 5644943 G A SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known silent c.1320 p.A440 0.980 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 94 0 0 19 14 42.4242 AIMP2 0 genome.wustl.edu 37 7 6063222 6063222 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 6063222 6063222 T G SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.863 p.I288S 0.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 78 0 0 28 15 34.8837 INTS4L1 0 genome.wustl.edu 37 7 64639757 64639757 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 64639757 64639757 A G SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 43 0 0 31 4 11.4286 CRCP 0 genome.wustl.edu 37 7 65610438 65610438 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 65610438 65610438 A G SNP CRCP ENST00000395326 human ensembl 74_37 +1 known missense c.248 p.K83R 1.000 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 212 0 0 77 29 27.3585 PMS2CL 0 genome.wustl.edu 37 7 6777215 6777215 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 6777215 6777215 C T SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC ENSG00000187953 308 0 0 105 36 25.5319 ELN 0 genome.wustl.edu 37 7 73462849 73462849 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 73462849 73462849 A G SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.762 p.A254 0.514 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 171 1 0.581395 82 29 26.1261 CLIP2 0 genome.wustl.edu 37 7 73790832 73790832 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 73790832 73790832 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.2101 p.R701W 0.934 superfamily_t-SNARE pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 42 0 0 20 8 28.5714 PCLO 0 genome.wustl.edu 37 7 82476473 82476473 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 82476473 82476473 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13745 p.A4582G 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 26 0 0 11 4 26.6667 ADAM22 0 genome.wustl.edu 37 7 87564383 87564383 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 87564383 87564383 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.128 p.R43H 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 105 0 0 37 8 17.7778 PEX1 0 genome.wustl.edu 37 7 92146640 92146640 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 92146640 92146640 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.1189 p.A397T 0.682 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 145 1 0.684932 80 29 26.6055 TAC1 0 genome.wustl.edu 37 7 97362035 97362035 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 97362035 97362035 C T SNP TAC1 ENST00000319273 human ensembl 74_37 +1 known silent c.111 p.S37 1.000 prints_Protachykinin smart_Tachykinin,prints_Protachykinin - no_errors TAC1 HGNC ENSG00000006128 103 0 0 53 18 25.3521 ZSCAN25 0 genome.wustl.edu 37 7 99227411 99227411 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 99227411 99227411 G A SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known missense c.1403 p.S468N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 94 0 0 24 19 44.186 NACAP1 0 genome.wustl.edu 37 8 102381673 102381673 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 102381673 102381673 T C SNP NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NACAP1 HGNC ENSG00000228224 87 0 0 74 4 5.12821 SLC25A32 0 genome.wustl.edu 37 8 104413730 104413730 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 104413730 104413730 G A SNP SLC25A32 ENST00000523701 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SLC25A32 HGNC ENSG00000164933 166 0 0 91 24 20.8696 XKR6 0 genome.wustl.edu 37 8 10755763 10755763 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 10755763 10755763 G A SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.1625 p.T542M 1.000 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 53 0 0 28 21 42.8571 SLC35G5 0 genome.wustl.edu 37 8 11188646 11188646 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 11188646 11188646 C T SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.31 p.P11S 0.863 NULL pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 105 0 0 47 16 25.3968 EXT1 0 genome.wustl.edu 37 8 118834730 118834730 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 118834730 118834730 T A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1391 p.D464V 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 90 0 0 74 13 14.9425 ENPP2 0 genome.wustl.edu 37 8 120608105 120608105 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 120608105 120608105 C T SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known silent c.1110 p.A370 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 217 0 0 139 42 23.2044 TRMT12 0 genome.wustl.edu 37 8 125463342 125463342 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 125463342 125463342 G A SNP TRMT12 ENST00000328599 human ensembl 74_37 +1 known silent c.174 p.A58 0.977 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 68 0 0 38 8 17.3913 DLC1 0 genome.wustl.edu 37 8 12957167 12957167 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 12957167 12957167 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2679 p.D893E 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 57 0 0 43 10 18.8679 ADCY8 0 genome.wustl.edu 37 8 132051844 132051844 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 132051844 132051844 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.736 p.G246S 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 55 0 0 41 11 21.1538 FAM135B 0 genome.wustl.edu 37 8 139153485 139153485 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 139153485 139153485 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3746 p.P1249H 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 95 0 0 45 19 29.6875 TRAPPC9 0 genome.wustl.edu 37 8 141461467 141461467 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 141461467 141461467 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known silent c.300 p.S100 0.924 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 56 0 0 38 9 19.1489 TSNARE1 0 genome.wustl.edu 37 8 143427223 143427223 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 143427223 143427223 A G SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.119 p.I40T 0.690 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 105 0 0 42 16 27.5862 CYP11B1 0 genome.wustl.edu 37 8 143958275 143958275 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 143958275 143958275 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.622 p.R208W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 61 0 0 39 5 11.3636 NAPRT1 0 genome.wustl.edu 37 8 144658934 144658934 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144658934 144658934 C T SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known missense c.763 p.A255T 0.951 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 21 0 0 14 3 17.6471 EEF1D 0 genome.wustl.edu 37 8 144672247 144672247 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144672247 144672247 C A SNP EEF1D ENST00000423316 human ensembl 74_37 -1 known missense c.5 p.R2M 1.000 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 75 0 0 26 4 13.3333 SCRIB 0 genome.wustl.edu 37 8 144874959 144874959 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144874959 144874959 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4096 p.R1366C 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 19 0 0 19 3 13.6364 SCRIB 0 genome.wustl.edu 37 8 144887175 144887175 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144887175 144887175 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.2680 p.V894I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 13 0 0 6 4 40 SCRIB 0 genome.wustl.edu 37 8 144892860 144892860 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144892860 144892860 T A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1400 p.K467M 0.995 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 312 0 0 186 50 21.1864 PLEC 0 genome.wustl.edu 37 8 144996946 144996946 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 144996946 144996946 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7562 p.R2521H 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 15 0 0 10 5 33.3333 PARP10 0 genome.wustl.edu 37 8 145058891 145058891 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145058891 145058891 C T SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.1279 p.A427T 0.003 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 220 0 0 148 37 20 OPLAH 0 genome.wustl.edu 37 8 145112163 145112163 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145112163 145112163 G T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1483 p.H495N 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 37 0 0 12 8 40 BOP1 0 genome.wustl.edu 37 8 145512821 145512821 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145512821 145512821 G A SNP BOP1 ENST00000529231 human ensembl 74_37 -1 putative missense c.47 p.T16M 0.001 NULL NULL - no_errors BOP1 HGNC ENSG00000170727 155 0 0 77 19 19.7917 DGAT1 0 genome.wustl.edu 37 8 145540281 145540281 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145540281 145540281 G A SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.1403 p.A468V 0.996 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 24 0 0 14 5 26.3158 ARHGAP39 0 genome.wustl.edu 37 8 145806354 145806354 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145806354 145806354 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.388 p.V130I 0.956 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 14 0 0 13 3 18.75 DLGAP2 0 genome.wustl.edu 37 8 1514032 1514032 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 1514032 1514032 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1174 p.G392R 0.823 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 29 0 0 20 5 20 ASAH1 0 genome.wustl.edu 37 8 17924735 17924735 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 17924735 17924735 G T SNP ASAH1 ENST00000381733 human ensembl 74_37 -1 known missense c.424 p.P142T 1.000 pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ENSG00000104763 52 0 0 20 6 23.0769 PSD3 0 genome.wustl.edu 37 8 18662050 18662050 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 18662050 18662050 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.1892 p.T631M 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 62 0 0 56 20 26.3158 LPL 0 genome.wustl.edu 37 8 19811840 19811840 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 19811840 19811840 G A SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.751 p.V251M 0.009 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 125 0 0 69 17 19.7674 HR 0 genome.wustl.edu 37 8 21986118 21986118 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 21986118 21986118 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.566 p.S189F 0.002 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 19 0 0 11 2 15.3846 REEP4 0 genome.wustl.edu 37 8 21996234 21996234 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 21996234 21996234 C T SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.626 p.R209Q 0.010 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 165 0 0 72 26 26.5306 BMP1 0 genome.wustl.edu 37 8 22069141 22069141 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 22069141 22069141 T G SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.2861 p.V954G 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 171 0 0 91 30 24.7934 NEFL 0 genome.wustl.edu 37 8 24813205 24813205 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 24813205 24813205 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 0.777 - - - no_errors NEFL HGNC ENSG00000104725 48 0 0 33 8 19.5122 DOCK5 0 genome.wustl.edu 37 8 25267621 25267621 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 25267621 25267621 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.5411 p.P1804L 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 47 0 0 22 5 18.5185 EBF2 0 genome.wustl.edu 37 8 25897577 25897577 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 25897577 25897577 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.449 p.C150Y 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 261 0 0 145 28 16.185 CSMD1 0 genome.wustl.edu 37 8 2813120 2813120 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 2813120 2813120 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9988 p.V3330M 0.979 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 76 0 0 45 15 25 FZD3 0 genome.wustl.edu 37 8 28378245 28378245 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 28378245 28378245 C T SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known missense c.280 p.R94C 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 293 1 0.340136 165 44 21.0526 WRN 0 genome.wustl.edu 37 8 30969140 30969140 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 30969140 30969140 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2098 p.V700I 0.024 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 83 0 0 56 21 27.2727 UNC5D 0 genome.wustl.edu 37 8 35542123 35542123 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 35542123 35542123 A T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.775 p.T259S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 166 0 0 80 20 20 AGPAT6 0 genome.wustl.edu 37 8 41469749 41469749 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 41469749 41469749 C T SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.752 p.P251L 0.999 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 125 0 0 79 22 21.7822 IKBKB 0 genome.wustl.edu 37 8 42178300 42178300 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 42178300 42178300 C A SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known silent c.1626 p.T542 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 181 0 0 75 14 15.7303 RP1 0 genome.wustl.edu 37 8 55534032 55534032 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 55534032 55534032 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.506 p.A169V 0.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 233 0 0 96 26 21.3115 RP1 0 genome.wustl.edu 37 8 55539129 55539129 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 55539129 55539129 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.2687 p.A896V 0.758 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 76 0 0 45 14 23.7288 FAM110B 0 genome.wustl.edu 37 8 59059060 59059060 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 59059060 59059060 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.271 p.R91C 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 53 0 0 29 14 32.5581 FAM110B 0 genome.wustl.edu 37 8 59059079 59059079 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 59059079 59059079 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.290 p.T97M 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 47 0 0 31 12 27.907 CHD7 0 genome.wustl.edu 37 8 61777851 61777851 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 61777851 61777851 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.8353 p.A2785T 0.993 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 21 0 0 21 6 22.2222 BHLHE22 0 genome.wustl.edu 37 8 65494007 65494007 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 65494007 65494007 T C SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.660 p.G220 0.022 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 9 0 0 3 2 40 COPS5 0 genome.wustl.edu 37 8 67971573 67971573 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 67971573 67971573 T A SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.251 p.K84M 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 168 0 0 97 26 21.1382 CSPP1 0 genome.wustl.edu 37 8 67976722 67976722 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 67976722 67976722 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.89 p.R30H 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 47 0 0 23 3 11.5385 PREX2 0 genome.wustl.edu 37 8 68989642 68989642 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 68989642 68989642 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1580 p.R527H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 144 0 0 67 18 21.1765 PREX2 0 genome.wustl.edu 37 8 69012063 69012063 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 69012063 69012063 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2700 p.I900M 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 82 0 0 65 18 21.6867 EYA1 0 genome.wustl.edu 37 8 72211944 72211944 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 72211944 72211944 T C SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.568 p.T190A 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 130 0 0 85 15 15 ZFHX4 0 genome.wustl.edu 37 8 77776234 77776234 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 77776234 77776234 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.10284 p.F3428 0.978 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 53 0 0 36 12 25 ZFHX4 0 genome.wustl.edu 37 8 77776768 77776768 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 77776768 77776768 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.10818 p.F3606L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 45 0 0 18 10 35.7143 CHMP4C 0 genome.wustl.edu 37 8 82670501 82670501 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 82670501 82670501 T C SNP CHMP4C ENST00000297265 human ensembl 74_37 +1 known missense c.608 p.M203T 0.000 NULL pfam_Snf7 - no_errors CHMP4C HGNC ENSG00000164695 84 0 0 48 19 28.3582 SLC7A13 0 genome.wustl.edu 37 8 87242090 87242090 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 87242090 87242090 C A SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.417 p.L139F 0.460 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 98 0 0 67 22 24.7191 ENSG00000221137 0 genome.wustl.edu 37 8 87670121 87670121 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 87670121 87670121 C T SNP ENSG00000221137 ENST00000408210 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors AC013751.1 Clone_based_ensembl_gene ENSG00000221137 64 0 0 40 11 21.5686 RUNX1T1 0 genome.wustl.edu 37 8 93003866 93003866 + Splice_Site SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 93003866 93003866 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known splice_site c.1024+1 e6+1 1.000 - - - no_errors RUNX1T1 HGNC ENSG00000079102 257 0 0 137 39 22.1591 GEM 0 genome.wustl.edu 37 8 95272705 95272705 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 95272705 95272705 G T SNP GEM ENST00000297596 human ensembl 74_37 -1 known silent c.27 p.R9 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 53 0 0 31 4 11.4286 NDUFAF6 0 genome.wustl.edu 37 8 96044275 96044275 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 96044275 96044275 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known nonsense c.250 p.R84* 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 164 0 0 75 15 16.6667 GDF6 0 genome.wustl.edu 37 8 97157603 97157603 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 97157603 97157603 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.556 p.V186M 0.689 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 13 0 0 10 4 28.5714 TSPYL5 0 genome.wustl.edu 37 8 98289483 98289483 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 98289483 98289483 G A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.590 p.A197V 0.016 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 169 0 0 97 43 30.7143 MTDH 0 genome.wustl.edu 37 8 98657012 98657012 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 98657012 98657012 C T SNP MTDH ENST00000336273 human ensembl 74_37 +1 known missense c.278 p.A93V 0.016 NULL NULL - no_errors MTDH HGNC ENSG00000147649 20 0 0 9 8 47.0588 ABCA1 0 genome.wustl.edu 37 9 107546689 107546689 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 107546689 107546689 T C SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.6693 p.K2231 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 107 0 0 45 35 43.75 SVEP1 0 genome.wustl.edu 37 9 113243565 113243565 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 113243565 113243565 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.2322 p.G774 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 29 0 0 17 3 15 SVEP1 0 genome.wustl.edu 37 9 113341676 113341676 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 113341676 113341676 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.148 p.P50S 0.984 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 10 0 0 3 3 50 OR2K2 0 genome.wustl.edu 37 9 114090466 114090466 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 114090466 114090466 A G SNP OR2K2 ENST00000374428 human ensembl 74_37 -1 known missense c.335 p.V112A 0.607 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 117 0 0 38 20 34.4828 KIAA1958 0 genome.wustl.edu 37 9 115421607 115421607 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 115421607 115421607 G A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1493 p.G498D 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 87 0 0 41 15 26.7857 KIAA1958 0 genome.wustl.edu 37 9 115421907 115421907 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 115421907 115421907 G T SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1793 p.R598L 1.000 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 51 0 0 21 7 25 SLC46A2 0 genome.wustl.edu 37 9 115652493 115652493 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 115652493 115652493 T C SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known missense c.469 p.M157V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 62 0 0 25 17 40.4762 ZNF618 0 genome.wustl.edu 37 9 116812464 116812464 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 116812464 116812464 A G SNP ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF618 HGNC ENSG00000157657 167 1 0.595238 57 4 6.55738 COL27A1 0 genome.wustl.edu 37 9 117050984 117050984 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 117050984 117050984 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.4047 p.G1349 0.992 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 43 0 0 23 8 25.8065 COL27A1 0 genome.wustl.edu 37 9 117071541 117071541 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 117071541 117071541 T C SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.5219 p.V1740A 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 330 0 0 92 46 33.3333 DFNB31 0 genome.wustl.edu 37 9 117266881 117266881 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 117266881 117266881 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.201 p.A67 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 52 0 0 14 3 17.6471 MEGF9 0 genome.wustl.edu 37 9 123367553 123367553 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 123367553 123367553 G A SNP MEGF9 ENST00000426959 human ensembl 74_37 -1 known missense c.1835 p.S612L 1.000 NULL pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 202 1 0.492611 63 30 32.2581 PTGS1 0 genome.wustl.edu 37 9 125145862 125145862 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 125145862 125145862 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known silent c.837 p.P279 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 66 0 0 30 18 37.5 LHX2 0 genome.wustl.edu 37 9 126783458 126783458 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 126783458 126783458 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.808 p.R270C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 113 0 0 42 14 25 GAPVD1 0 genome.wustl.edu 37 9 128088865 128088865 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 128088865 128088865 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2029 p.A677T 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 154 0 0 61 33 35.1064 FAM129B 0 genome.wustl.edu 37 9 130289474 130289474 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 130289474 130289474 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.314 p.A105V 1.000 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 111 0 0 31 25 44.6429 DOLPP1 0 genome.wustl.edu 37 9 131851261 131851261 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 131851261 131851261 G A SNP DOLPP1 ENST00000372546 human ensembl 74_37 +1 known missense c.692 p.R231H 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DOLPP1 HGNC ENSG00000167130 81 0 0 21 14 40 ABL1 0 genome.wustl.edu 37 9 133760422 133760422 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 133760422 133760422 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.2802 p.S934 0.006 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 47 0 0 21 3 12.5 PRRC2B 0 genome.wustl.edu 37 9 134354775 134354775 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 134354775 134354775 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.4895 p.S1632N 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 28 0 0 15 6 28.5714 UCK1 0 genome.wustl.edu 37 9 134401379 134401379 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 134401379 134401379 G A SNP UCK1 ENST00000484876 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors UCK1 HGNC ENSG00000130717 145 0 0 58 25 30.1205 CELP 0 genome.wustl.edu 37 9 135961693 135961693 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135961693 135961693 C T SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors CELP HGNC ENSG00000170827 35 0 0 14 2 12.5 RALGDS 0 genome.wustl.edu 37 9 135977154 135977154 + RNA SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135977154 135977154 G T SNP RALGDS ENST00000469972 human ensembl 74_37 -1 known rna NULL NULL 0.438 - - - no_errors RALGDS HGNC ENSG00000160271 18 0 0 10 9 47.3684 DBH 0 genome.wustl.edu 37 9 136517397 136517397 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 136517397 136517397 G A SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.1365 p.S455 0.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 120 0 0 34 14 29.1667 PPP1R26 0 genome.wustl.edu 37 9 138376419 138376419 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 138376419 138376419 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.63 p.P21 0.022 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 157 1 0.632911 54 23 29.8701 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 150 0 0 60 12 16.6667 KCNT1 0 genome.wustl.edu 37 9 138670667 138670667 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 138670667 138670667 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.2728 p.R910W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 76 0 0 24 13 35.1351 LHX3 0 genome.wustl.edu 37 9 139091567 139091567 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 139091567 139091567 G A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known silent c.426 p.S142 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 44 0 0 23 13 36.1111 NOTCH1 0 genome.wustl.edu 37 9 139391271 139391271 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 139391271 139391271 T C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.6920 p.Q2307R 1.000 pirsf_Notch,prints_Notch_1 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 102 0 0 49 17 25.7576 TOR4A 0 genome.wustl.edu 37 9 140174064 140174064 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 140174064 140174064 C T SNP TOR4A ENST00000357503 human ensembl 74_37 +1 known missense c.923 p.T308M 0.994 smart_AAA+_ATPase pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 15 0 0 9 5 35.7143 PNPLA7 0 genome.wustl.edu 37 9 140355145 140355145 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 140355145 140355145 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.3886 p.V1296I 0.001 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 85 0 0 30 16 34.7826 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 267 0 0 118 9 7.08661 FOCAD 0 genome.wustl.edu 37 9 20988333 20988333 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 20988333 20988333 G A SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.4909 p.V1637I 0.994 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 96 0 0 24 14 36.8421 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 25 0 0 38 4 9.52381 UBAP1 0 genome.wustl.edu 37 9 34242049 34242049 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 34242049 34242049 C A SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known silent c.1218 p.S406 0.986 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 168 0 0 59 23 28.0488 ENHO 0 genome.wustl.edu 37 9 34521676 34521676 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 34521676 34521676 G T SNP ENHO ENST00000399775 human ensembl 74_37 -1 known silent c.18 p.S6 1.000 NULL NULL - no_errors ENHO HGNC ENSG00000168913 44 0 0 18 5 21.7391 RUSC2 0 genome.wustl.edu 37 9 35560416 35560416 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 35560416 35560416 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.3779 p.A1260V 0.013 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 94 0 0 32 18 36 TMEM8B 0 genome.wustl.edu 37 9 35846207 35846207 + RNA SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 35846207 35846207 G T SNP TMEM8B ENST00000490199 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM8B HGNC ENSG00000137103 103 0 0 38 21 35.5932 PAX5 0 genome.wustl.edu 37 9 36846850 36846850 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 36846850 36846850 C T SNP PAX5 ENST00000523241 human ensembl 74_37 -1 novel missense c.857 p.R286Q 0.908 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 70 0 0 16 5 23.8095 FBXO10 0 genome.wustl.edu 37 9 37541216 37541216 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 37541216 37541216 A C SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.550 p.F184V 1.000 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 159 0 0 63 33 34.375 SPATA31A6 0 genome.wustl.edu 37 9 43626531 43626531 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 43626531 43626531 C A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.2156 p.R719M 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 39 0 0 35 8 18.6047 SLC1A1 0 genome.wustl.edu 37 9 4561477 4561477 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 4561477 4561477 C T SNP SLC1A1 ENST00000262352 human ensembl 74_37 +1 known silent c.261 p.S87 0.989 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 358 0 0 127 53 29.4444 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 93 0 0 66 12 15.3846 APBA1 0 genome.wustl.edu 37 9 72131694 72131694 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 72131694 72131694 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.433 p.A145T 0.078 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 40 0 0 11 11 50 KANK1 0 genome.wustl.edu 37 9 744580 744580 + Silent SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 744580 744580 C A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3987 p.A1329 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 129 0 0 39 11 22 ALDH1A1 0 genome.wustl.edu 37 9 75526891 75526891 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 75526891 75526891 G A SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.1183 p.R395C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 163 0 0 47 30 38.961 FOXB2 0 genome.wustl.edu 37 9 79635623 79635623 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 79635623 79635623 G A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.1053 p.L351 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 18 0 0 10 4 28.5714 VPS13A 0 genome.wustl.edu 37 9 79836274 79836274 + Splice_Site SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 79836274 79836274 T C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known splice_site c.1161+2 e13+2 1.000 - - - no_errors VPS13A HGNC ENSG00000197969 85 0 0 31 7 18.4211 AGTPBP1 0 genome.wustl.edu 37 9 88272486 88272486 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 88272486 88272486 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.929 p.R310H 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 53 0 0 24 3 11.1111 DAPK1 0 genome.wustl.edu 37 9 90313686 90313686 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 90313686 90313686 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.2727 p.S909 0.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 85 0 0 38 22 36.6667 S1PR3 0 genome.wustl.edu 37 9 91617139 91617139 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 91617139 91617139 A G SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known missense c.1024 p.S342G 1.000 prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 73 0 0 30 10 25 SHC3 0 genome.wustl.edu 37 9 91661763 91661763 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 91661763 91661763 G A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1109 p.A370V 0.039 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 119 0 0 31 21 40.3846 SEMA4D 0 genome.wustl.edu 37 9 92017805 92017805 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 92017805 92017805 A G SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.233 p.I78T 0.775 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 85 0 0 41 17 29.3103 SYK 0 genome.wustl.edu 37 9 93624564 93624564 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 93624564 93624564 G A SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.655 p.D219N 0.997 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 56 0 0 20 7 25.9259 ENSG00000226668 0 genome.wustl.edu 37 9 95646207 95646207 + RNA SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 95646207 95646207 G A SNP ENSG00000226668 ENST00000411450 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 90 0 0 34 14 29.1667 XKRX 0 genome.wustl.edu 37 X 100169733 100169733 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 100169733 100169733 A G SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.983 p.V328A 0.991 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 290 0 0 115 50 30.303 BTK 0 genome.wustl.edu 37 X 100613619 100613619 + Silent SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 100613619 100613619 A G SNP BTK ENST00000308731 human ensembl 74_37 -1 known silent c.960 p.F320 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 447 0 0 157 72 31.441 NXF4 0 genome.wustl.edu 37 X 101818963 101818963 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 101818963 101818963 C T SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors NXF4 HGNC ENSG00000196970 54 0 0 27 8 22.8571 BHLHB9 0 genome.wustl.edu 37 X 102005119 102005119 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 102005119 102005119 G A SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known missense c.1196 p.R399H 0.015 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 141 0 0 61 28 31.4607 PLP1 0 genome.wustl.edu 37 X 103041757 103041757 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 103041757 103041757 C T SNP PLP1 ENST00000465975 human ensembl 74_37 +1 putative rna NULL NULL 0.840 - - - no_errors PLP1 HGNC ENSG00000123560 71 0 0 39 11 22 NRK 0 genome.wustl.edu 37 X 105197095 105197095 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 105197095 105197095 G T SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4586 p.R1529M 0.024 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 33 0 0 12 4 25 TEX13B 0 genome.wustl.edu 37 X 107224610 107224610 + Silent SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 107224610 107224610 G T SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known silent c.639 p.V213 0.000 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 460 1 0.21692 132 58 30.5263 PLS3 0 genome.wustl.edu 37 X 114869331 114869331 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 114869331 114869331 G A SNP PLS3 ENST00000355899 human ensembl 74_37 +1 known missense c.721 p.A241T 1.000 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 254 0 0 117 39 25 MIR1277 0 genome.wustl.edu 37 X 117520421 117520421 + RNA SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 117520421 117520421 T A SNP MIR1277 ENST00000408536 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR1277 HGNC ENSG00000221463 70 0 0 21 19 47.5 NKAP 0 genome.wustl.edu 37 X 119068456 119068456 + Splice_Site SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 119068456 119068456 C T SNP NKAP ENST00000371410 human ensembl 74_37 -1 known splice_site c.737+1 e5+1 0.672 - - - no_errors NKAP HGNC ENSG00000101882 132 0 0 36 17 32.0755 TMEM255A 0 genome.wustl.edu 37 X 119438315 119438315 + Missense_Mutation SNP G G C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 119438315 119438315 G C SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.90 p.I30M 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 244 0 0 83 40 32.5203 TMEM255A 0 genome.wustl.edu 37 X 119445132 119445132 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 119445132 119445132 G A SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known silent c.33 p.S11 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 13 0 0 2 3 60 GRIA3 0 genome.wustl.edu 37 X 122319770 122319770 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 122319770 122319770 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.196 p.E66K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 76 0 0 45 21 31.8182 THOC2 0 genome.wustl.edu 37 X 122765540 122765540 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 122765540 122765540 G A SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.2480 p.S827L 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 412 0 0 174 57 24.6753 DCAF12L2 0 genome.wustl.edu 37 X 125298904 125298904 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 125298904 125298904 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1004 p.R335H 0.978 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 227 0 0 98 14 12.5 ZDHHC9 0 genome.wustl.edu 37 X 128963037 128963037 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 128963037 128963037 A G SNP ZDHHC9 ENST00000357166 human ensembl 74_37 -1 known missense c.248 p.L83P 0.993 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ENSG00000188706 162 0 0 69 46 40 ENSG00000229702 0 genome.wustl.edu 37 X 129629114 129629114 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 129629114 129629114 C T SNP ENSG00000229702 ENST00000458525 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 47 0 0 19 17 47.2222 TFDP3 0 genome.wustl.edu 37 X 132351559 132351559 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 132351559 132351559 G A SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known silent c.729 p.S243 0.997 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 268 0 0 97 44 31.2057 GPC4 0 genome.wustl.edu 37 X 132438841 132438841 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 132438841 132438841 A G SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.1204 p.S402P 0.992 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 209 0 0 107 29 21.3235 GPC4 0 genome.wustl.edu 37 X 132439828 132439828 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 132439828 132439828 G A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.1127 p.T376I 1.000 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 529 0 0 169 54 24.2152 MAP7D3 0 genome.wustl.edu 37 X 135307005 135307005 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 135307005 135307005 G A SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.2120 p.T707I 0.404 pfam_MAP7 pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 49 0 0 21 5 19.2308 ZIC3 0 genome.wustl.edu 37 X 136651098 136651098 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 136651098 136651098 C T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known silent c.1098 p.D366 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 508 0 0 147 82 35.8079 FGF13 0 genome.wustl.edu 37 X 137939797 137939797 + Nonsense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 137939797 137939797 G A SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known nonsense c.94 p.R32* 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 104 0 0 40 20 33.3333 SPANXC 0 genome.wustl.edu 37 X 140336519 140336519 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 140336519 140336519 C T SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known silent c.72 p.T24 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 133 0 0 36 37 50.6849 GEMIN8 0 genome.wustl.edu 37 X 14038456 14038456 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 14038456 14038456 C T SNP GEMIN8 ENST00000380523 human ensembl 74_37 -1 known silent c.213 p.A71 0.000 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 219 1 0.454545 114 59 34.104 CSF2RA 0 genome.wustl.edu 37 X 1407832 1407832 + RNA SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 1407832 1407832 A G SNP CSF2RA ENST00000478256 human ensembl 74_37 +1 putative rna NULL NULL 0.018 - - - no_errors CSF2RA HGNC ENSG00000198223 130 0 0 51 30 37.037 MAGEC3 0 genome.wustl.edu 37 X 140985151 140985151 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 140985151 140985151 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1607 p.S536I 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 284 0 0 117 64 35.3591 MAGEC2 0 genome.wustl.edu 37 X 141291102 141291102 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 141291102 141291102 C T SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known missense c.672 p.M224I 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 251 0 0 152 11 6.74847 CXorf40A 0 genome.wustl.edu 37 X 148627251 148627251 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 148627251 148627251 G A SNP CXorf40A ENST00000359293 human ensembl 74_37 +1 known silent c.75 p.T25 0.545 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40A HGNC ENSG00000197620 108 0 0 34 23 40.3509 MTM1 0 genome.wustl.edu 37 X 149814219 149814219 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 149814219 149814219 G A SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.742 p.G248S 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 199 0 0 95 37 28.0303 MTMR1 0 genome.wustl.edu 37 X 149931081 149931081 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 149931081 149931081 C T SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known missense c.1901 p.A634V 0.136 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 191 0 0 54 21 28 GPR50 0 genome.wustl.edu 37 X 150348872 150348872 + Missense_Mutation SNP A A C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 150348872 150348872 A C SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.817 p.N273H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 234 0 0 108 34 23.9437 ENSG00000214915 0 genome.wustl.edu 37 X 150684103 150684103 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 150684103 150684103 C T SNP ENSG00000214915 ENST00000454307 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XX-FW80269A6.1 Clone_based_vega_gene ENSG00000214915 30 0 0 4 4 50 GABRA3 0 genome.wustl.edu 37 X 151532939 151532939 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 151532939 151532939 T C SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.104 p.Q35R 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 375 0 0 137 64 31.8408 ATP2B3 0 genome.wustl.edu 37 X 152807798 152807798 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 152807798 152807798 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.682 p.D228N 0.997 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 106 0 0 30 15 33.3333 IDH3G 0 genome.wustl.edu 37 X 153052285 153052285 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153052285 153052285 A G SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known missense c.895 p.Y299H 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 220 0 0 67 37 35.5769 SSR4 0 genome.wustl.edu 37 X 153063670 153063670 + RNA SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153063670 153063670 T C SNP SSR4 ENST00000460616 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSR4 HGNC ENSG00000180879 119 0 0 45 17 27.4194 MECP2 0 genome.wustl.edu 37 X 153363100 153363100 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153363100 153363100 G A SNP MECP2 ENST00000453960 human ensembl 74_37 -1 novel missense c.23 p.A8V 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 20 0 0 2 3 60 TKTL1 0 genome.wustl.edu 37 X 153549180 153549180 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153549180 153549180 G A SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.1106 p.R369Q 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 298 0 0 107 38 26.2069 RPL10 0 genome.wustl.edu 37 X 153626868 153626868 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153626868 153626868 G A SNP RPL10 ENST00000344746 human ensembl 74_37 +1 known missense c.8 p.R3H 1.000 pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 610 0 0 174 69 28.3951 SLC10A3 0 genome.wustl.edu 37 X 153716404 153716404 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153716404 153716404 C T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known silent c.876 p.T292 0.307 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 148 0 0 56 21 27.2727 SLC10A3 0 genome.wustl.edu 37 X 153716482 153716482 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153716482 153716482 G A SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known silent c.798 p.G266 0.702 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 156 1 0.636943 44 36 45 CTAG2 0 genome.wustl.edu 37 X 153880696 153880696 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153880696 153880696 G A SNP CTAG2 ENST00000247306 human ensembl 74_37 -1 putative missense c.479 p.P160L 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 158 0 0 74 30 28.8462 CTAG2 0 genome.wustl.edu 37 X 153880812 153880812 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153880812 153880812 C T SNP CTAG2 ENST00000369585 human ensembl 74_37 -1 known silent c.363 p.A121 0.000 pfam_EKC/KEOPS_Pcc1 pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 151 0 0 54 20 27.027 GAB3 0 genome.wustl.edu 37 X 153944591 153944591 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 153944591 153944591 C T SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.86 p.R29H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 89 0 0 51 17 25 MPP1 0 genome.wustl.edu 37 X 154020565 154020565 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 154020565 154020565 C A SNP MPP1 ENST00000488694 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP1 HGNC ENSG00000130830 105 0 0 26 18 40.9091 ACE2 0 genome.wustl.edu 37 X 15584543 15584543 + RNA SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 15584543 15584543 C A SNP ACE2 ENST00000473851 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACE2 HGNC ENSG00000130234 334 0 0 78 47 37.6 TXLNG 0 genome.wustl.edu 37 X 16838317 16838317 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 16838317 16838317 T G SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.437 p.L146R 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 337 0 0 98 38 27.9412 TXLNG 0 genome.wustl.edu 37 X 16847735 16847735 + Nonsense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 16847735 16847735 C T SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known nonsense c.706 p.R236* 0.991 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 94 0 0 34 13 27.6596 TXLNG 0 genome.wustl.edu 37 X 16850813 16850813 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 16850813 16850813 C T SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.932 p.T311M 0.968 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 157 0 0 70 34 32.6923 TXLNG 0 genome.wustl.edu 37 X 16859628 16859628 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 16859628 16859628 G A SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known silent c.1326 p.Q442 0.642 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 108 0 0 41 5 10.8696 REPS2 0 genome.wustl.edu 37 X 17092244 17092244 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 17092244 17092244 C T SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known silent c.1341 p.P447 0.408 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 358 0 0 122 61 33.3333 CDKL5 0 genome.wustl.edu 37 X 18606123 18606123 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 18606123 18606123 G A SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.604 p.G202R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 449 2 0.443459 158 75 32.1888 SMS 0 genome.wustl.edu 37 X 21995317 21995317 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 21995317 21995317 G T SNP SMS ENST00000404933 human ensembl 74_37 +1 known missense c.468 p.K156N 0.996 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC ENSG00000102172 193 0 0 63 17 21.25 ZBED1 0 genome.wustl.edu 37 X 2408343 2408343 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 2408343 2408343 G T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.418 p.P140T 0.999 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 108 0 0 64 28 30.4348 MAGEB18 0 genome.wustl.edu 37 X 26157454 26157454 + Missense_Mutation SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 26157454 26157454 T G SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.352 p.L118V 0.130 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 26 0 0 11 4 26.6667 DCAF8L1 0 genome.wustl.edu 37 X 27999324 27999324 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 27999324 27999324 G A SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.128 p.A43V 0.020 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 84 0 0 53 20 27.3973 ARSE 0 genome.wustl.edu 37 X 2867493 2867493 + Missense_Mutation SNP G G T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 2867493 2867493 G T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known missense c.781 p.L261I 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 87 0 0 35 9 20.4545 FAM47B 0 genome.wustl.edu 37 X 34961045 34961045 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 34961045 34961045 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.97 p.R33C 0.000 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 53 0 0 32 19 37.2549 CYBB 0 genome.wustl.edu 37 X 37664356 37664356 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 37664356 37664356 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.1249 p.A417T 1.000 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 82 0 0 29 20 40.8163 USP9X 0 genome.wustl.edu 37 X 41075795 41075795 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 41075795 41075795 G A SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.5975 p.R1992Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 147 0 0 65 29 30.8511 SLC38A5 0 genome.wustl.edu 37 X 48325406 48325406 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 48325406 48325406 C T SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known missense c.188 p.G63D 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 57 0 0 12 11 47.8261 PORCN 0 genome.wustl.edu 37 X 48368302 48368302 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 48368302 48368302 C T SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.94 p.L32F 1.000 NULL pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 92 0 0 29 11 27.5 DGKK 0 genome.wustl.edu 37 X 50213090 50213090 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 50213090 50213090 C T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DGKK HGNC ENSG00000204466 64 0 0 29 9 23.6842 SSX7 0 genome.wustl.edu 37 X 52682511 52682511 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 52682511 52682511 G A SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known silent c.12 p.D4 0.001 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 423 0 0 173 77 30.8 KDM5C 0 genome.wustl.edu 37 X 53241077 53241077 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 53241077 53241077 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.1134 p.R378 0.997 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 36 0 0 19 9 32.1429 KDM5C 0 genome.wustl.edu 37 X 53246351 53246351 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 53246351 53246351 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.631 p.R211W 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 35 0 0 9 6 40 RIBC1 0 genome.wustl.edu 37 X 53455587 53455587 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 53455587 53455587 G A SNP RIBC1 ENST00000457095 human ensembl 74_37 +1 known missense c.556 p.G186S 0.000 NULL pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 49 0 0 11 6 35.2941 HUWE1 0 genome.wustl.edu 37 X 53566005 53566005 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 53566005 53566005 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.11669 p.H3890R 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 51 0 0 12 7 36.8421 WNK3 0 genome.wustl.edu 37 X 54278032 54278032 + Missense_Mutation SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 54278032 54278032 T C SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.2456 p.H819R 0.962 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 53 0 0 28 8 22.2222 MAGED2 0 genome.wustl.edu 37 X 54836447 54836447 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 54836447 54836447 C T SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.338 p.P113L 0.022 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 22 0 0 13 4 23.5294 ZXDA 0 genome.wustl.edu 37 X 57935671 57935671 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 57935671 57935671 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.1184 p.G395D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 198 0 0 54 32 37.2093 NLGN4X 0 genome.wustl.edu 37 X 5947435 5947435 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 5947435 5947435 A G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.571 p.Y191H 0.982 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 84 0 0 24 20 45.4545 STARD8 0 genome.wustl.edu 37 X 67941513 67941513 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 67941513 67941513 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2384 p.A795V 0.948 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 126 0 0 43 14 24.5614 ZMYM3 0 genome.wustl.edu 37 X 70468578 70468578 + Silent SNP T T G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 70468578 70468578 T G SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.1701 p.T567 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 31 0 0 7 4 36.3636 TAF1 0 genome.wustl.edu 37 X 70612474 70612474 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 70612474 70612474 A T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.2834 p.K945M 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 113 0 0 46 17 26.9841 ERCC6L 0 genome.wustl.edu 37 X 71428342 71428342 + Missense_Mutation SNP A A G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 71428342 71428342 A G SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.275 p.L92P 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 232 0 0 129 56 30.2703 XIST 0 genome.wustl.edu 37 X 73065225 73065225 + RNA SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 73065225 73065225 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XIST HGNC ENSG00000229807 253 0 0 94 60 38.961 RLIM 0 genome.wustl.edu 37 X 73811803 73811803 + Silent SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 73811803 73811803 A T SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.1347 p.S449 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 192 0 0 75 24 24.2424 MAGEE1 0 genome.wustl.edu 37 X 75648366 75648366 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 75648366 75648366 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.43 p.V15I 0.013 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 42 0 0 21 7 25 CYSLTR1 0 genome.wustl.edu 37 X 77528566 77528566 + Silent SNP T T C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 77528566 77528566 T C SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known silent c.678 p.S226 0.279 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_CLT1_recept,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 76 0 0 37 16 30.1887 POU3F4 0 genome.wustl.edu 37 X 82763842 82763842 + Silent SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 82763842 82763842 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known silent c.510 p.P170 0.864 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 28 0 0 12 8 40 ZNF711 0 genome.wustl.edu 37 X 84510755 84510755 + Missense_Mutation SNP T T A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 84510755 84510755 T A SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known missense c.504 p.D168E 0.978 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 135 0 0 63 26 29.2135 KAL1 0 genome.wustl.edu 37 X 8538695 8538695 + Missense_Mutation SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 8538695 8538695 C T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.907 p.V303I 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 55 0 0 22 10 31.25 KAL1 0 genome.wustl.edu 37 X 8555939 8555939 + Missense_Mutation SNP A A T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 8555939 8555939 A T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.622 p.F208I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 39 0 0 20 9 31.0345 DACH2 0 genome.wustl.edu 37 X 85906124 85906124 + Silent SNP C C T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 85906124 85906124 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.726 p.S242 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 72 0 0 19 8 29.6296 DIAPH2 0 genome.wustl.edu 37 X 96212939 96212939 + Missense_Mutation SNP C C A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 96212939 96212939 C A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.1727 p.P576H 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 53 0 0 21 6 22.2222 TSPAN6 0 genome.wustl.edu 37 X 99891687 99891687 + Missense_Mutation SNP G G A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 99891687 99891687 G A SNP TSPAN6 ENST00000373020 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN6 HGNC ENSG00000000003 26 0 0 9 5 35.7143 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 47 0 0 24 10 29.4118 LOC100129138 0 genome.wustl.edu 37 1 104615719 104615720 + RNA DEL AC AC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 104615719 104615720 AC - DEL LOC100129138 ENST00000418362 human ensembl 74_37 +1 known rna NULL NULL 0.648:0.573 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 36 0 0 12 5 29.4118 KCNC4 0 genome.wustl.edu 37 1 110754185 110754185 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 110754185 110754185 A - DEL KCNC4 ENST00000369787 human ensembl 74_37 +1 known frame_shift_del c.64 p.T23fs 1.000 pfam_K_chnl_volt-dep_Kv3_ID,prints_K_chnl_volt-dep_Kv3.4 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 74 0 0 21 4 16 EXOSC10 0 genome.wustl.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 11128120 11128120 T - DEL EXOSC10 ENST00000376936 human ensembl 74_37 -1 known frame_shift_del c.2572 p.I858fs 0.002 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 143 0 0 49 16 24.6154 SYCP1 0 genome.wustl.edu 37 1 115527421 115527421 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 115527421 115527421 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2635 p.K881fs 0.018 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 184 0 0 63 22 25.8824 VWA1 0 genome.wustl.edu 37 1 1372689 1372689 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 1372689 1372689 C - DEL VWA1 ENST00000476993 human ensembl 74_37 +1 known frame_shift_del c.456 p.M155fs 0.512 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 27 0 0 12 4 25 TXNIP 0 genome.wustl.edu 37 1 145438750 145438750 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 145438750 145438750 T - DEL TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNIP HGNC ENSG00000117289 88 0 0 26 10 27.7778 PIAS3 0 genome.wustl.edu 37 1 145578385 145578385 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 145578385 145578385 C - DEL PIAS3 ENST00000393045 human ensembl 74_37 +1 known frame_shift_del c.348 p.P118fs 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 183 0 0 80 26 24.5283 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 85 0 0 35 7 16.6667 OTUD7B 0 genome.wustl.edu 37 1 149916627 149916627 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 149916627 149916627 T - DEL OTUD7B ENST00000369135 human ensembl 74_37 -1 known frame_shift_del c.1661 p.N554fs 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 224 0 0 120 36 23.0769 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 13 0 0 12 6 33.3333 RPRD2 0 genome.wustl.edu 37 1 150445612 150445612 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150445612 150445612 C - DEL RPRD2 ENST00000369068 human ensembl 74_37 +1 known frame_shift_del c.4188 p.L1399fs 0.993 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 151 0 0 56 19 25.3333 ADAMTSL4 0 genome.wustl.edu 37 1 150526141 150526141 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 150526141 150526141 C - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.674 p.Q227fs 0.047 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 176 0 0 68 25 26.8817 RFX5 0 genome.wustl.edu 37 1 151314788 151314789 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 151314788 151314789 - T INS RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_ins c.1725_1724 p.E576fs 1.000:1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 207 0 0 88 38 30.1587 RFX5 0 genome.wustl.edu 37 1 151317583 151317583 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 151317583 151317583 T - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.232 p.S78fs 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 70 0 0 32 16 33.3333 FLG 0 genome.wustl.edu 37 1 152280785 152280785 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 152280785 152280785 T - DEL FLG ENST00000368799 human ensembl 74_37 -1 known frame_shift_del c.6577 p.T2193fs 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 790 0 0 262 116 30.6878 SHC1 0 genome.wustl.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 154942911 154942911 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.92 p.P31fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 109 0 0 39 11 22 DCST1 0 genome.wustl.edu 37 1 155006873 155006874 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 155006873 155006874 - A INS DCST1 ENST00000525273 human ensembl 74_37 +1 known frame_shift_ins c.99_100 p.S34fs 0.001:0.000 NULL pfam_DC_STAMP-like - no_errors DCST1 HGNC ENSG00000163357 409 0 0 152 45 22.8426 GON4L 0 genome.wustl.edu 37 1 155785777 155785778 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 155785777 155785778 AA - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 16 0 0 8 8 50 LMNA 0 genome.wustl.edu 37 1 156106015 156106016 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 156106015 156106016 - C INS LMNA ENST00000368300 human ensembl 74_37 +1 known frame_shift_ins c.1168_1169 p.S392fs 1.000:1.000 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 81 0 0 34 12 26.087 ISG20L2 0 genome.wustl.edu 37 1 156694022 156694023 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 156694022 156694023 - G INS ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_ins c.866_865 p.L289fs 1.000:0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 167 0 0 69 19 21.5909 FCRL3 0 genome.wustl.edu 37 1 157666960 157666960 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 157666960 157666960 T - DEL FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 104 0 0 41 12 22.6415 OR6N2 0 genome.wustl.edu 37 1 158746767 158746768 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 158746767 158746768 - T INS OR6N2 ENST00000339258 human ensembl 74_37 -1 known frame_shift_ins c.659_658 p.R220fs 0.001:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 45 0 0 43 17 28.3333 NDUFS2 0 genome.wustl.edu 37 1 161176356 161176358 + In_Frame_Del DEL AGA AGA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 161176356 161176358 AGA - DEL NDUFS2 ENST00000367993 human ensembl 74_37 +1 known in_frame_del c.362_364 p.K122in_frame_del 1.000:1.000:1.000 tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 60 0 0 15 7 31.8182 CD247 0 genome.wustl.edu 37 1 167404559 167404560 + RNA INS - - TG TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 167404559 167404560 - TG INS CD247 ENST00000483825 human ensembl 74_37 -1 known rna NULL NULL 0.022:0.021 - - - no_errors CD247 HGNC ENSG00000198821 21 0 0 6 4 40 RCSD1 0 genome.wustl.edu 37 1 167654711 167654711 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 167654711 167654711 C - DEL RCSD1 ENST00000367854 human ensembl 74_37 +1 known frame_shift_del c.162 p.K57fs 1.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 164 0 0 51 17 25 PADI6 0 genome.wustl.edu 37 1 17721598 17721598 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 17721598 17721598 A - DEL PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PADI6 HGNC ENSG00000256049 199 0 0 55 21 27.6316 RASAL2 0 genome.wustl.edu 37 1 178412041 178412041 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 178412041 178412041 A - DEL RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_del c.1159 p.K389fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 123 0 0 81 12 12.9032 NPHS2 0 genome.wustl.edu 37 1 179528881 179528881 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 179528881 179528881 A - DEL NPHS2 ENST00000367615 human ensembl 74_37 -1 known frame_shift_del c.467 p.L156fs 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 15 0 0 3 3 50 LAMC1 0 genome.wustl.edu 37 1 183109589 183109590 + Frame_Shift_Del DEL CT CT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 183109589 183109590 CT - DEL LAMC1 ENST00000258341 human ensembl 74_37 +1 known frame_shift_del c.4524_4525 p.S1509fs 0.994:0.997 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 64 0 0 29 12 29.2683 NCF2 0 genome.wustl.edu 37 1 183533129 183533129 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 183533129 183533129 A - DEL NCF2 ENST00000469280 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors NCF2 HGNC ENSG00000116701 399 0 0 108 43 28.4768 COLGALT2 0 genome.wustl.edu 37 1 183938468 183938468 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 183938468 183938468 G - DEL COLGALT2 ENST00000361927 human ensembl 74_37 -1 known frame_shift_del c.767 p.P256fs 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 179 0 0 76 18 19.1489 SWT1 0 genome.wustl.edu 37 1 185130053 185130053 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 185130053 185130053 A - DEL SWT1 ENST00000367500 human ensembl 74_37 +1 known frame_shift_del c.80 p.D29fs 0.997 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 67 0 0 26 5 16.129 PLA2G4A 0 genome.wustl.edu 37 1 186908212 186908213 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 186908212 186908213 - A INS PLA2G4A ENST00000367466 human ensembl 74_37 +1 known frame_shift_ins c.768_769 p.N257fs 1.000:1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 136 0 0 42 14 25 RPS10P7 0 genome.wustl.edu 37 1 201489719 201489720 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 201489719 201489720 AA - DEL RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 0.056:0.062 - - - no_errors RPS10P7 HGNC ENSG00000223396 9 0 0 3 3 50 LRRN2 0 genome.wustl.edu 37 1 204587829 204587829 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 204587829 204587829 G - DEL LRRN2 ENST00000367175 human ensembl 74_37 -1 known frame_shift_del c.1292 p.P431fs 0.386 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 87 0 0 15 17 53.125 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 373 0 0 77 77 50 AVPR1B 0 genome.wustl.edu 37 1 206224854 206224854 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 206224854 206224854 C - DEL AVPR1B ENST00000367126 human ensembl 74_37 +1 known frame_shift_del c.414 p.L140fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 112 0 0 49 9 15.5172 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 253 0 0 109 35 24.3056 EIF4G3 0 genome.wustl.edu 37 1 21226331 21226332 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 21226331 21226332 - T INS EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_ins c.1708_1707 p.V569fs 0.001:0.003 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 383 0 0 176 42 19.2661 TMEM206 0 genome.wustl.edu 37 1 212548597 212548597 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 212548597 212548597 T - DEL TMEM206 ENST00000535273 human ensembl 74_37 -1 known frame_shift_del c.1012 p.S338fs 0.016 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 138 0 0 53 8 13.1148 WNT9A 0 genome.wustl.edu 37 1 228111953 228111954 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228111953 228111954 - C INS WNT9A ENST00000272164 human ensembl 74_37 -1 known frame_shift_ins c.501_500 p.C168fs 1.000:1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 279 0 0 86 25 22.5225 TRIM17 0 genome.wustl.edu 37 1 228596779 228596779 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 228596779 228596779 C - DEL TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_del c.977 p.G326fs 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 50 0 0 28 11 28.2051 LYST 0 genome.wustl.edu 37 1 235897964 235897964 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 235897964 235897964 A - DEL LYST ENST00000473037 human ensembl 74_37 -1 known rna NULL NULL 0.917 - - - no_errors LYST HGNC ENSG00000143669 81 0 0 34 11 24.4444 MTR 0 genome.wustl.edu 37 1 237024474 237024475 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 237024474 237024475 AA - DEL MTR ENST00000366577 human ensembl 74_37 +1 known frame_shift_del c.2093_2094 p.K700fs 0.988:0.988 pfam_Cbl-bd_cap,superfamily_Cbl-bd_cap,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 123 0 0 40 18 31.0345 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 110 1 0.900901 39 11 22 WDR64 0 genome.wustl.edu 37 1 241964455 241964455 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 241964455 241964455 A - DEL WDR64 ENST00000366552 human ensembl 74_37 +1 known frame_shift_del c.3184 p.N1064fs 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 132 0 0 50 19 27.5362 TMEM57 0 genome.wustl.edu 37 1 25785019 25785019 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 25785019 25785019 A - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.790 p.K265fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 156 0 0 66 30 31.25 LDLRAP1 0 genome.wustl.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 25889632 25889632 T - DEL LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 102 1 0.970874 32 9 21.9512 CNKSR1 0 genome.wustl.edu 37 1 26510310 26510311 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 26510310 26510311 - C INS CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_ins c.865_866 p.Q292fs 0.002:0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 75 0 0 32 11 25.5814 ARID1A 0 genome.wustl.edu 37 1 27101268 27101268 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27101268 27101268 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4550 p.Q1519fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 162 0 0 66 25 27.4725 ARID1A 0 genome.wustl.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27105930 27105931 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.5541_5542 p.D1849fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 166 0 0 96 25 20.6612 WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 67 0 0 22 7 24.1379 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 67 0 0 21 8 27.5862 GMEB1 0 genome.wustl.edu 37 1 29041386 29041387 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 29041386 29041387 AA - DEL GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252:0.049 - - - no_errors GMEB1 HGNC ENSG00000162419 12 0 0 6 9 60 FNDC5 0 genome.wustl.edu 37 1 33330280 33330280 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 33330280 33330280 C - DEL FNDC5 ENST00000609187 human ensembl 74_37 -1 known frame_shift_del c.393 p.L132fs 0.275 NULL superfamily_Fibronectin_type3 - no_errors FNDC5 HGNC ENSG00000160097 94 0 0 51 17 25 MEGF6 0 genome.wustl.edu 37 1 3418429 3418429 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 3418429 3418429 C - DEL MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_del c.2245 p.A749fs 0.930 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 92 0 0 23 7 23.3333 DLGAP3 0 genome.wustl.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 35365852 35365852 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1130 p.G377fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 182 0 0 89 25 21.9298 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 116 0 0 53 25 32.0513 ENSG00000232335 0 genome.wustl.edu 37 1 36208989 36208989 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 36208989 36208989 A - DEL ENSG00000232335 ENST00000373226 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435D7.3 Clone_based_vega_gene ENSG00000232335 79 0 0 20 35 63.6364 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475028 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 36475027 36475028 AA - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011:0.004 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 63 0 0 18 12 40 COL8A2 0 genome.wustl.edu 37 1 36564202 36564203 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 36564202 36564203 - G INS COL8A2 ENST00000303143 human ensembl 74_37 -1 known frame_shift_ins c.1080_1079 p.G361fs 1.000:1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 46 0 0 5 4 44.4444 PPCS 0 genome.wustl.edu 37 1 42925658 42925658 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 42925658 42925658 A - DEL PPCS ENST00000469615 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors PPCS HGNC ENSG00000127125 31 0 0 13 20 60.6061 TIE1 0 genome.wustl.edu 37 1 43779724 43779725 + RNA INS - - TGTG TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 43779724 43779725 - TGTG INS TIE1 ENST00000471187 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 19 0 0 9 4 30.7692 ERI3 0 genome.wustl.edu 37 1 44820660 44820660 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 44820660 44820660 C - DEL ERI3 ENST00000372257 human ensembl 74_37 -1 known frame_shift_del c.39 p.R14fs 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 26 0 0 10 4 28.5714 GPBP1L1 0 genome.wustl.edu 37 1 46120889 46120890 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 46120889 46120890 - A INS GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known frame_shift_ins c.163_162 p.N54fs 1.000:1.000 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 181 0 0 83 28 25.2252 AJAP1 0 genome.wustl.edu 37 1 4829992 4829992 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 4829992 4829992 A - DEL AJAP1 ENST00000378190 human ensembl 74_37 +1 known frame_shift_del c.909 p.N305fs 1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 234 0 0 71 36 33.6449 SLC5A9 0 genome.wustl.edu 37 1 48698101 48698101 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 48698101 48698101 G - DEL SLC5A9 ENST00000236495 human ensembl 74_37 +1 known frame_shift_del c.1035 p.G347fs 0.988 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 81 0 0 27 8 22.8571 ORC1 0 genome.wustl.edu 37 1 52849592 52849592 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 52849592 52849592 T - DEL ORC1 ENST00000371566 human ensembl 74_37 -1 known frame_shift_del c.1773 p.A592fs 1.000 pfam_ATPase_AAA_core,pfam_DUF2075,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 94 0 0 32 9 21.9512 PRPF38A 0 genome.wustl.edu 37 1 52874256 52874256 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 52874256 52874256 G - DEL PRPF38A ENST00000257181 human ensembl 74_37 +1 known frame_shift_del c.306 p.A104fs 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 118 0 0 64 25 28.0899 GLIS1 0 genome.wustl.edu 37 1 54060232 54060232 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 54060232 54060232 C - DEL GLIS1 ENST00000312233 human ensembl 74_37 -1 known frame_shift_del c.344 p.G115fs 0.059 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 97 0 0 25 11 30.5556 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 53 0 0 27 9 25 USP1 0 genome.wustl.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 62916272 62916272 A - DEL USP1 ENST00000339950 human ensembl 74_37 +1 known frame_shift_del c.1978 p.N662fs 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 124 0 0 44 21 32.3077 MIER1 0 genome.wustl.edu 37 1 67425495 67425495 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 67425495 67425495 T - DEL MIER1 ENST00000493357 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIER1 HGNC ENSG00000198160 35 0 0 11 7 38.8889 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 190 0 0 35 40 53.3333 C1orf173 0 genome.wustl.edu 37 1 75078435 75078436 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 75078435 75078436 - A INS C1orf173 ENST00000326665 human ensembl 74_37 -1 known frame_shift_ins c.1059_1058 p.L354fs 1.000:1.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 75 0 0 37 19 33.9286 FUBP1 0 genome.wustl.edu 37 1 78433854 78433854 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 78433854 78433854 T - DEL FUBP1 ENST00000436586 human ensembl 74_37 -1 known frame_shift_del c.308 p.N103fs 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 80 0 0 31 7 18.4211 TTLL7 0 genome.wustl.edu 37 1 84335733 84335735 + In_Frame_Del DEL AAG AAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 84335733 84335735 AAG - DEL TTLL7 ENST00000260505 human ensembl 74_37 -1 known in_frame_del c.2576_2574 p.F858in_frame_del 1.000:1.000:1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 79 0 0 27 10 27.027 EVI5 0 genome.wustl.edu 37 1 93073081 93073081 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 93073081 93073081 A - DEL EVI5 ENST00000492513 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EVI5 HGNC ENSG00000067208 18 0 0 13 3 18.75 MTF2 0 genome.wustl.edu 37 1 93580631 93580632 + In_Frame_Ins INS - - CAA TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 1 93580631 93580632 - CAA INS MTF2 ENST00000370298 human ensembl 74_37 +1 known in_frame_ins c.469_470 p.161in_frame_insT 1.000:1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 79 0 0 42 10 19.2308 ABCC2 0 genome.wustl.edu 37 10 101554309 101554309 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 101554309 101554309 T - DEL ABCC2 ENST00000496621 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCC2 HGNC ENSG00000023839 18 0 0 7 4 36.3636 LZTS2 0 genome.wustl.edu 37 10 102762593 102762593 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 102762593 102762593 C - DEL LZTS2 ENST00000370220 human ensembl 74_37 +1 known frame_shift_del c.298 p.S102fs 0.387 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 84 0 0 48 16 25 DPCD 0 genome.wustl.edu 37 10 103339944 103339944 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 103339944 103339944 G - DEL DPCD ENST00000470165 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DPCD HGNC ENSG00000166171 64 0 0 24 4 14.2857 KCNIP2 0 genome.wustl.edu 37 10 103590899 103590899 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 103590899 103590899 T - DEL KCNIP2 ENST00000461105 human ensembl 74_37 -1 known frame_shift_del c.99 p.A34fs 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 37 0 0 10 3 23.0769 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 55 0 0 40 17 29.8246 CNNM2 0 genome.wustl.edu 37 10 104679763 104679763 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 104679763 104679763 C - DEL CNNM2 ENST00000369878 human ensembl 74_37 +1 known frame_shift_del c.1526 p.L511fs 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 195 1 0.510204 96 37 27.8195 SH3PXD2A 0 genome.wustl.edu 37 10 105361689 105361689 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 105361689 105361689 C - DEL SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_del c.3286 p.V1096fs 0.998 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 209 0 0 98 33 25.1908 CCDC147 0 genome.wustl.edu 37 10 106152048 106152048 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 106152048 106152048 A - DEL CCDC147 ENST00000369704 human ensembl 74_37 +1 known frame_shift_del c.1423 p.I477fs 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 189 0 0 83 26 23.8532 ATRNL1 0 genome.wustl.edu 37 10 116887435 116887435 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 116887435 116887435 T - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 36 0 0 9 5 35.7143 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 74 0 0 15 13 46.4286 FAM24B 0 genome.wustl.edu 37 10 124608920 124608920 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 124608920 124608920 T - DEL FAM24B ENST00000368896 human ensembl 74_37 -1 known frame_shift_del c.128 p.N43fs 0.000 NULL NULL - no_errors FAM24B HGNC ENSG00000213185 131 0 0 74 18 19.5652 DPYSL4 0 genome.wustl.edu 37 10 134017254 134017254 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 134017254 134017254 C - DEL DPYSL4 ENST00000471544 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DPYSL4 HGNC ENSG00000151640 67 0 0 24 8 25 PWWP2B 0 genome.wustl.edu 37 10 134218281 134218281 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 134218281 134218281 C - DEL PWWP2B ENST00000305233 human ensembl 74_37 +1 known frame_shift_del c.277 p.E95fs 0.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 47 0 0 21 5 19.2308 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 85 0 0 53 20 27.3973 MIR511-2 0 genome.wustl.edu 37 10 18134079 18134079 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 18134079 18134079 T - DEL MIR511-2 ENST00000385203 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors MIR511-2 HGNC ENSG00000207938 75 0 0 72 4 5.26316 ARMC4 0 genome.wustl.edu 37 10 28233164 28233164 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 28233164 28233164 C - DEL ARMC4 ENST00000305242 human ensembl 74_37 -1 known frame_shift_del c.1730 p.G577fs 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 27 0 0 19 7 26.9231 MPP7 0 genome.wustl.edu 37 10 28343108 28343108 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 28343108 28343108 A - DEL MPP7 ENST00000337532 human ensembl 74_37 -1 known frame_shift_del c.1617 p.F539fs 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 26 0 0 16 5 23.8095 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 32 0 0 10 3 23.0769 PFKP 0 genome.wustl.edu 37 10 3172106 3172106 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 3172106 3172106 G - DEL PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_del c.1779 p.L596fs 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 143 0 0 55 18 24.6575 KIF5B 0 genome.wustl.edu 37 10 32311825 32311826 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 32311825 32311826 - T INS KIF5B ENST00000302418 human ensembl 74_37 -1 known frame_shift_ins c.1865_1864 p.M622fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 137 0 0 67 25 27.1739 ZNF488 0 genome.wustl.edu 37 10 48371277 48371277 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 48371277 48371277 C - DEL ZNF488 ENST00000395702 human ensembl 74_37 +1 known frame_shift_del c.745 p.P250fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 108 0 0 68 23 25.2747 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 101 0 0 48 32 40 ENSG00000200294 0 genome.wustl.edu 37 10 73940733 73940733 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 73940733 73940733 T - DEL ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 13 0 0 3 5 62.5 ZCCHC24 0 genome.wustl.edu 37 10 81146068 81146068 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 81146068 81146068 G - DEL ZCCHC24 ENST00000372333 human ensembl 74_37 -1 known frame_shift_del c.580 p.R194fs 0.001 NULL NULL - no_errors ZCCHC24 HGNC ENSG00000165424 17 0 0 10 4 28.5714 CCSER2 0 genome.wustl.edu 37 10 86131826 86131826 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 86131826 86131826 A - DEL CCSER2 ENST00000372088 human ensembl 74_37 +1 known frame_shift_del c.1018 p.N341fs 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 218 0 0 86 31 26.4957 PTEN 0 genome.wustl.edu 37 10 89720812 89720812 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 89720812 89720812 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.963 p.N323fs 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 175 0 0 108 9 7.69231 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 116 0 0 30 30 50 ACTA2 0 genome.wustl.edu 37 10 90706853 90706853 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 90706853 90706853 T - DEL ACTA2 ENST00000488967 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ACTA2 HGNC ENSG00000107796 16 0 0 23 7 23.3333 KIF20B 0 genome.wustl.edu 37 10 91497987 91497987 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 91497987 91497987 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.3479 p.N1162fs 0.300 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 176 0 0 59 27 31.3953 BTAF1 0 genome.wustl.edu 37 10 93756247 93756247 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 93756247 93756247 T - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known frame_shift_del c.3431 p.L1146fs 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 83 0 0 47 16 25.3968 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 91 0 0 22 34 60.7143 KIAA1377 0 genome.wustl.edu 37 11 101833648 101833648 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 101833648 101833648 A - DEL KIAA1377 ENST00000263468 human ensembl 74_37 +1 known frame_shift_del c.1882 p.K629fs 0.986 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 85 0 0 44 13 22.807 MMP3 0 genome.wustl.edu 37 11 102713563 102713563 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 102713563 102713563 T - DEL MMP3 ENST00000299855 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.965 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 47 0 0 30 11 26.8293 CASP4 0 genome.wustl.edu 37 11 104825608 104825608 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 104825608 104825608 T - DEL CASP4 ENST00000444739 human ensembl 74_37 -1 known frame_shift_del c.128 p.K43fs 0.002 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 173 0 0 86 36 29.5082 CWF19L2 0 genome.wustl.edu 37 11 107299560 107299560 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 107299560 107299560 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.1398 p.E467fs 0.186 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 318 0 0 127 55 30.2198 BCO2 0 genome.wustl.edu 37 11 112064312 112064312 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 112064312 112064312 A - DEL BCO2 ENST00000357685 human ensembl 74_37 +1 known frame_shift_del c.409 p.N138fs 0.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 67 0 0 21 9 30 TTC12 0 genome.wustl.edu 37 11 113230172 113230172 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 113230172 113230172 T - DEL TTC12 ENST00000314756 human ensembl 74_37 +1 known frame_shift_del c.1534 p.F512fs 0.000 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 175 0 0 68 25 26.8817 BACE1 0 genome.wustl.edu 37 11 117167623 117167623 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 117167623 117167623 G - DEL BACE1 ENST00000313005 human ensembl 74_37 -1 known frame_shift_del c.316 p.H106fs 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 153 0 0 48 9 15.7895 BCL9L 0 genome.wustl.edu 37 11 118773127 118773127 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 118773127 118773127 C - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1325 p.G442fs 0.175 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 53 0 0 31 11 26.1905 NLRX1 0 genome.wustl.edu 37 11 119050611 119050611 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 119050611 119050611 G - DEL NLRX1 ENST00000292199 human ensembl 74_37 +1 known frame_shift_del c.1881 p.L630fs 1.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 115 0 0 72 25 25.7732 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 207 0 0 83 24 22.4299 PKNOX2 0 genome.wustl.edu 37 11 125301354 125301354 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 125301354 125301354 G - DEL PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors PKNOX2 HGNC ENSG00000165495 39 0 0 10 4 28.5714 IGSF22 0 genome.wustl.edu 37 11 18743379 18743380 + RNA INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 18743379 18743380 - G INS IGSF22 ENST00000412229 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors IGSF22 HGNC ENSG00000179057 114 0 0 38 15 28.3019 IGF2-AS 0 genome.wustl.edu 37 11 2167576 2167576 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 2167576 2167576 C - DEL IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IGF2-AS HGNC ENSG00000099869 162 0 0 60 24 28.5714 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 134 1 0.740741 63 27 30 CAT 0 genome.wustl.edu 37 11 34490058 34490058 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 34490058 34490058 A - DEL CAT ENST00000525707 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CAT HGNC ENSG00000121691 15 0 0 6 7 53.8462 ART1 0 genome.wustl.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 3681478 3681478 C - DEL ART1 ENST00000250693 human ensembl 74_37 +1 known frame_shift_del c.729 p.F246fs 0.999 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 107 0 0 47 9 16.0714 B4GALNT4 0 genome.wustl.edu 37 11 380920 380921 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 380920 380921 - G INS B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_ins c.2965_2966 p.E992fs 1.000:1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 23 0 0 20 6 23.0769 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 98 0 0 32 11 25.5814 PTPMT1 0 genome.wustl.edu 37 11 47594388 47594388 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 47594388 47594388 A - DEL PTPMT1 ENST00000527079 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTPMT1 HGNC ENSG00000110536 11 0 0 13 7 35 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 112 0 0 28 15 34.8837 MPEG1 0 genome.wustl.edu 37 11 58978570 58978570 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 58978570 58978570 G - DEL MPEG1 ENST00000361050 human ensembl 74_37 -1 known frame_shift_del c.1769 p.P590fs 0.986 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 289 0 0 110 42 27.6316 OR4D11 0 genome.wustl.edu 37 11 59271133 59271134 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 59271133 59271134 - T INS OR4D11 ENST00000313253 human ensembl 74_37 +1 known frame_shift_ins c.85_86 p.L31fs 0.055:0.044 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 149 0 0 73 34 31.7757 TMEM132A 0 genome.wustl.edu 37 11 60704176 60704176 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 60704176 60704176 G - DEL TMEM132A ENST00000005286 human ensembl 74_37 +1 known frame_shift_del c.2872 p.R960fs 0.988 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 54 0 0 24 8 25 HNRNPUL2 0 genome.wustl.edu 37 11 62491839 62491839 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 62491839 62491839 C - DEL HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known frame_shift_del c.598 p.V200fs 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 160 0 0 84 22 20.7547 SNHG1 0 genome.wustl.edu 37 11 62622692 62622692 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 62622692 62622692 A - DEL SNHG1 ENST00000539921 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC ENSG00000255717 51 0 0 30 19 38.7755 RARRES3 0 genome.wustl.edu 37 11 63313787 63313787 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 63313787 63313787 C - DEL RARRES3 ENST00000537871 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RARRES3 HGNC ENSG00000133321 85 0 0 38 17 30.9091 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 71 0 0 40 12 23.0769 CCDC88B 0 genome.wustl.edu 37 11 64120811 64120811 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64120811 64120811 C - DEL CCDC88B ENST00000463837 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC88B HGNC ENSG00000168071 42 0 0 19 5 20.8333 APBB1 0 genome.wustl.edu 37 11 6424925 6424925 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 6424925 6424925 G - DEL APBB1 ENST00000389906 human ensembl 74_37 -1 known frame_shift_del c.849 p.G284fs 0.480 superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 135 0 0 32 17 34.6939 SF1 0 genome.wustl.edu 37 11 64535117 64535117 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64535117 64535117 G - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.1268 p.P423fs 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 124 0 0 51 21 29.1667 SF1 0 genome.wustl.edu 37 11 64537456 64537457 + Frame_Shift_Del DEL CA CA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64537456 64537457 CA - DEL SF1 ENST00000377390 human ensembl 74_37 -1 known frame_shift_del c.459_458 p.V153fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 51 0 0 25 7 21.875 SLC22A20 0 genome.wustl.edu 37 11 64981481 64981481 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 64981481 64981481 C - DEL SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 26 0 0 15 2 11.7647 SLC25A45 0 genome.wustl.edu 37 11 65144465 65144465 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65144465 65144465 G - DEL SLC25A45 ENST00000398802 human ensembl 74_37 -1 known frame_shift_del c.422 p.P141fs 0.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 102 1 0.970874 38 10 20.8333 SCYL1 0 genome.wustl.edu 37 11 65304600 65304601 + Splice_Site DEL GT GT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65304600 65304601 GT - DEL SCYL1 ENST00000270176 human ensembl 74_37 +1 known splice_site_del c.1959+1_1959+1 e14+1 1.000:0.981 - - - no_errors SCYL1 HGNC ENSG00000142186 77 0 0 18 2 10 PCNXL3 0 genome.wustl.edu 37 11 65403741 65403741 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 65403741 65403741 C - DEL PCNXL3 ENST00000355703 human ensembl 74_37 +1 known frame_shift_del c.5556 p.V1855fs 0.970 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 12 0 0 10 4 28.5714 BRMS1 0 genome.wustl.edu 37 11 66108714 66108714 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 66108714 66108714 C - DEL BRMS1 ENST00000425825 human ensembl 74_37 -1 known frame_shift_del c.321 p.L108fs 0.992 pfam_Sds3 pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 96 0 0 43 15 25.8621 TPP1 0 genome.wustl.edu 37 11 6636199 6636199 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 6636199 6636199 C - DEL TPP1 ENST00000299427 human ensembl 74_37 -1 known frame_shift_del c.1449 p.I484fs 0.217 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 266 1 0.374532 99 39 28.2609 CCS 0 genome.wustl.edu 37 11 66366958 66366958 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 66366958 66366958 G - DEL CCS ENST00000533244 human ensembl 74_37 +1 known frame_shift_del c.279 p.P96fs 0.968 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 47 0 0 24 8 25 TBX10 0 genome.wustl.edu 37 11 67402373 67402373 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 67402373 67402373 G - DEL TBX10 ENST00000335385 human ensembl 74_37 -1 known frame_shift_del c.291 p.F98fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 91 0 0 32 11 25.5814 MYEOV 0 genome.wustl.edu 37 11 69063724 69063724 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 69063724 69063724 G - DEL MYEOV ENST00000308946 human ensembl 74_37 +1 known frame_shift_del c.807 p.W272fs 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 66 0 0 18 14 43.75 INPPL1 0 genome.wustl.edu 37 11 71948748 71948748 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 71948748 71948748 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.3460 p.R1156fs 0.962 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 35 0 0 9 8 47.0588 ATG16L2 0 genome.wustl.edu 37 11 72535841 72535842 + Frame_Shift_Ins INS - - TG TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 72535841 72535842 - TG INS ATG16L2 ENST00000321297 human ensembl 74_37 +1 known frame_shift_ins c.950_951 p.V321fs 0.998:0.964 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 112 0 0 29 8 21.6216 RELT 0 genome.wustl.edu 37 11 73101832 73101832 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 73101832 73101832 C - DEL RELT ENST00000064780 human ensembl 74_37 +1 known frame_shift_del c.153 p.P53fs 0.993 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 141 0 0 57 26 31.3253 USP35 0 genome.wustl.edu 37 11 77911709 77911710 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 77911709 77911710 - C INS USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_ins c.1052_1053 p.M354fs 1.000:0.969 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 58 0 0 28 4 12.5 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 48 0 0 14 17 54.8387 EED 0 genome.wustl.edu 37 11 85977144 85977144 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 85977144 85977144 A - DEL EED ENST00000263360 human ensembl 74_37 +1 known frame_shift_del c.746 p.I251fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 166 0 0 91 33 26.6129 CTSC 0 genome.wustl.edu 37 11 88068108 88068108 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 11 88068108 88068108 A - DEL CTSC ENST00000227266 human ensembl 74_37 -1 known frame_shift_del c.315 p.F105fs 1.000 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 84 0 0 24 10 29.4118 CHPT1 0 genome.wustl.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 102108338 102108338 T - DEL CHPT1 ENST00000229266 human ensembl 74_37 +1 known frame_shift_del c.478 p.F162fs 0.989 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 88 0 0 35 33 48.5294 ASCL4 0 genome.wustl.edu 37 12 108169097 108169097 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 108169097 108169097 C - DEL ASCL4 ENST00000342331 human ensembl 74_37 +1 known frame_shift_del c.105 p.L37fs 0.003 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 79 0 0 39 17 30.3571 TCHP 0 genome.wustl.edu 37 12 110344435 110344435 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 110344435 110344435 A - DEL TCHP ENST00000312777 human ensembl 74_37 +1 known frame_shift_del c.515 p.K174fs 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 96 0 0 42 15 26.3158 ATXN2 0 genome.wustl.edu 37 12 111954046 111954046 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 111954046 111954046 G - DEL ATXN2 ENST00000377617 human ensembl 74_37 -1 known frame_shift_del c.1767 p.S590fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 59 0 0 20 11 35.4839 ACAD10 0 genome.wustl.edu 37 12 112140077 112140078 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112140077 112140078 - T INS ACAD10 ENST00000455480 human ensembl 74_37 +1 known frame_shift_ins c.299_300 p.L102fs 0.014:0.047 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 208 0 0 133 30 18.4049 MAPKAPK5 0 genome.wustl.edu 37 12 112308145 112308145 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112308145 112308145 T - DEL MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known frame_shift_del c.464 p.F156fs 1.000 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 MAPKAPK5 HGNC ENSG00000089022 56 0 0 18 16 47.0588 ERP29 0 genome.wustl.edu 37 12 112457688 112457688 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 112457688 112457688 G - DEL ERP29 ENST00000261735 human ensembl 74_37 +1 known frame_shift_del c.273 p.I93fs 1.000 pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 91 0 0 55 9 14.0625 OAS1 0 genome.wustl.edu 37 12 113346491 113346492 + Frame_Shift_Del DEL AG AG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 113346491 113346492 AG - DEL OAS1 ENST00000445409 human ensembl 74_37 +1 known frame_shift_del c.331_332 p.R113fs 0.000:0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 112 0 0 51 10 16.3934 IQCD 0 genome.wustl.edu 37 12 113645381 113645381 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 113645381 113645381 T - DEL IQCD ENST00000416617 human ensembl 74_37 -1 known frame_shift_del c.591 p.K197fs 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 102 0 0 79 34 30.0885 NOS1 0 genome.wustl.edu 37 12 117703230 117703230 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 117703230 117703230 C - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2027 p.G676fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 27 0 0 6 5 45.4545 HSPB8 0 genome.wustl.edu 37 12 119617377 119617377 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 119617377 119617377 C - DEL HSPB8 ENST00000281938 human ensembl 74_37 +1 known frame_shift_del c.260 p.P89fs 1.000 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 63 0 0 44 8 15.3846 MORN3 0 genome.wustl.edu 37 12 122090652 122090653 + Frame_Shift_Del DEL CT CT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 122090652 122090653 CT - DEL MORN3 ENST00000355329 human ensembl 74_37 -1 known frame_shift_del c.711_710 p.E237fs 0.452:0.415 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 86 0 0 41 12 22.6415 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 180 0 0 91 72 44.1718 NCOR2 0 genome.wustl.edu 37 12 124832800 124832801 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 124832800 124832801 - G INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_ins c.3926_3925 p.H1309fs 0.936:0.940 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 134 0 0 45 8 15.0943 EMP1 0 genome.wustl.edu 37 12 13364427 13364428 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 13364427 13364428 AA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 140 0 0 59 52 46.8468 PIK3C2G 0 genome.wustl.edu 37 12 18491389 18491390 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 18491389 18491390 - A INS PIK3C2G ENST00000538779 human ensembl 74_37 +1 known frame_shift_ins c.1302_1303 p.I436fs 0.996:0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 127 0 0 72 16 18.1818 RECQL 0 genome.wustl.edu 37 12 21644547 21644547 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 21644547 21644547 T - DEL RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_del c.120 p.V41fs 0.001 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 61 0 0 40 21 34.4262 GOLT1B 0 genome.wustl.edu 37 12 21661406 21661406 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 21661406 21661406 T - DEL GOLT1B ENST00000229314 human ensembl 74_37 +1 known frame_shift_del c.207 p.L72fs 0.588 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 77 0 0 52 18 25.7143 ASUN 0 genome.wustl.edu 37 12 27069026 27069026 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 27069026 27069026 A - DEL ASUN ENST00000261191 human ensembl 74_37 -1 known frame_shift_del c.1157 p.L386fs 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 72 0 0 42 10 19.2308 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 222 1 0.44843 125 83 39.9038 RHNO1 0 genome.wustl.edu 37 12 2994544 2994544 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 2994544 2994544 A - DEL RHNO1 ENST00000489288 human ensembl 74_37 +1 known frame_shift_del c.12 p.K6fs 0.704 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 172 0 0 55 28 33.7349 KIF21A 0 genome.wustl.edu 37 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 39734129 39734129 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2148 p.V717fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 31 0 0 28 8 22.2222 KIF21A 0 genome.wustl.edu 37 12 39745735 39745735 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 39745735 39745735 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.1517 p.N506fs 1.000 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 233 0 0 113 45 28.481 LRRK2 0 genome.wustl.edu 37 12 40697958 40697958 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 40697958 40697958 A - DEL LRRK2 ENST00000343742 human ensembl 74_37 +1 putative frame_shift_del c.3799 p.K1268fs 0.043 NULL pfam_Leu-rich_rpt,superfamily_ARM-type_fold,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRK2 HGNC ENSG00000188906 87 0 0 46 30 39.4737 LRRK2 0 genome.wustl.edu 37 12 40699672 40699673 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 40699672 40699673 - G INS LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_ins c.3863_3864 p.K1290fs 1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 68 0 0 36 21 36.8421 RAD51AP1 0 genome.wustl.edu 37 12 4653063 4653063 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4653063 4653063 A - DEL RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_del c.202 p.R70fs 0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 86 0 0 36 11 23.4043 DYRK4 0 genome.wustl.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4719362 4719362 A - DEL DYRK4 ENST00000010132 human ensembl 74_37 +1 known frame_shift_del c.1057 p.R355fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 104 0 0 42 36 46.1538 AKAP3 0 genome.wustl.edu 37 12 4736154 4736154 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4736154 4736154 G - DEL AKAP3 ENST00000228850 human ensembl 74_37 -1 known frame_shift_del c.1914 p.R639fs 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 84 0 0 41 39 48.75 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794304 + In_Frame_Del DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 4794302 4794304 AAA - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative in_frame_del c.51_53 p.K20in_frame_del 0.000:0.000:0.005 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 9 0 0 7 7 50 HDAC7 0 genome.wustl.edu 37 12 48189044 48189045 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 48189044 48189045 - G INS HDAC7 ENST00000380610 human ensembl 74_37 -1 known frame_shift_ins c.1258_1257 p.S419fs 1.000:0.999 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 107 0 0 54 39 41.9355 WNT1 0 genome.wustl.edu 37 12 49374348 49374348 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 49374348 49374348 G - DEL WNT1 ENST00000293549 human ensembl 74_37 +1 known frame_shift_del c.500 p.G169fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 25 0 0 15 9 37.5 KMT2D 0 genome.wustl.edu 37 12 49445526 49445526 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 49445526 49445526 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.1940 p.P647fs 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 139 1 0.714286 73 12 14.1176 TUBA1B 0 genome.wustl.edu 37 12 49523373 49523375 + In_Frame_Del DEL CTC CTC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 49523373 49523375 CTC - DEL TUBA1B ENST00000336023 human ensembl 74_37 -1 known in_frame_del c.136_134 p.G45in_frame_del 1.000:1.000:1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 220 0 0 141 34 19.4286 KRT75 0 genome.wustl.edu 37 12 52827736 52827736 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 52827736 52827736 G - DEL KRT75 ENST00000252245 human ensembl 74_37 -1 known frame_shift_del c.353 p.P118fs 0.970 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 144 0 0 85 21 19.8113 SMARCC2 0 genome.wustl.edu 37 12 56557535 56557535 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56557535 56557535 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3583 p.L1195fs 0.939 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 52 0 0 18 18 50 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 162 0 0 71 20 21.978 LRP1 0 genome.wustl.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57572242 57572242 G - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.4462 p.E1490fs 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 142 0 0 65 43 39.8148 DCTN2 0 genome.wustl.edu 37 12 57927806 57927806 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 57927806 57927806 G - DEL DCTN2 ENST00000434715 human ensembl 74_37 -1 known frame_shift_del c.614 p.P205fs 0.993 NULL NULL - no_errors DCTN2 HGNC ENSG00000175203 152 0 0 71 16 18.3908 DTX3 0 genome.wustl.edu 37 12 58001073 58001073 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 58001073 58001073 C - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known frame_shift_del c.436 p.L148fs 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 20 0 0 12 4 25 MON2 0 genome.wustl.edu 37 12 62981846 62981846 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 62981846 62981846 T - DEL MON2 ENST00000551397 human ensembl 74_37 +1 putative frame_shift_del c.22 p.F9fs 0.289 NULL NULL - no_errors MON2 HGNC ENSG00000061987 30 0 0 19 9 32.1429 DPY19L2 0 genome.wustl.edu 37 12 64055263 64055263 + Splice_Site DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 64055263 64055263 T - DEL DPY19L2 ENST00000324472 human ensembl 74_37 -1 known splice_site_del c.451-2 e4-2 0.999 - - - no_errors DPY19L2 HGNC ENSG00000177990 91 0 0 47 39 45.3488 C1S 0 genome.wustl.edu 37 12 7173239 7173239 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 7173239 7173239 A - DEL C1S ENST00000328916 human ensembl 74_37 +1 known frame_shift_del c.836 p.K281fs 0.022 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 140 1 0.70922 58 43 42.5743 E2F7 0 genome.wustl.edu 37 12 77449858 77449858 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 77449858 77449858 T - DEL E2F7 ENST00000322886 human ensembl 74_37 -1 known frame_shift_del c.146 p.N49fs 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 145 1 0.684932 84 22 20.7547 LRRIQ1 0 genome.wustl.edu 37 12 85638646 85638647 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 85638646 85638647 AA - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.5096_5097 p.N1702fs 1.000:1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 96 0 0 62 15 19.4805 ATP2B1 0 genome.wustl.edu 37 12 90013833 90013833 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 90013833 90013833 T - DEL ATP2B1 ENST00000261173 human ensembl 74_37 -1 known frame_shift_del c.1772 p.N591fs 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 127 0 0 77 27 25.9615 LUM 0 genome.wustl.edu 37 12 91497803 91497803 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 91497803 91497803 A - DEL LUM ENST00000548071 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors LUM HGNC ENSG00000139329 13 0 0 4 5 55.5556 ELK3 0 genome.wustl.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 12 96641028 96641029 - C INS ELK3 ENST00000228741 human ensembl 74_37 +1 known frame_shift_ins c.518_519 p.V176fs 0.017:0.019 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 78 0 0 59 7 10.6061 TM9SF2 0 genome.wustl.edu 37 13 100192902 100192902 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 100192902 100192902 T - DEL TM9SF2 ENST00000466555 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors TM9SF2 HGNC ENSG00000125304 28 0 0 23 14 37.8378 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 25 0 0 17 26 60.4651 XPO4 0 genome.wustl.edu 37 13 21384005 21384005 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 21384005 21384005 A - DEL XPO4 ENST00000255305 human ensembl 74_37 -1 known frame_shift_del c.1275 p.F425fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 65 0 0 29 9 23.6842 SACS 0 genome.wustl.edu 37 13 23911843 23911843 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 23911843 23911843 A - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.6172 p.S2058fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 51 0 0 36 7 16.2791 PARP4 0 genome.wustl.edu 37 13 25030500 25030500 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 25030500 25030500 T - DEL PARP4 ENST00000381989 human ensembl 74_37 -1 known frame_shift_del c.2541 p.K847fs 0.996 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 124 0 0 68 17 20 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278265 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 29278265 29278265 A - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 62 0 0 25 17 40.4762 HMGB1 0 genome.wustl.edu 37 13 31037599 31037600 + RNA INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 31037599 31037600 - T INS HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 83 0 0 94 25 21.0084 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 8 0 0 7 6 46.1538 BRCA2 0 genome.wustl.edu 37 13 32953632 32953633 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 32953632 32953633 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.8933_8934 p.E2981fs 0.001:0.008 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 151 0 0 65 11 14.4737 BRCA2 0 genome.wustl.edu 37 13 32954272 32954273 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 32954272 32954273 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.9246_9247 p.T3084fs 0.973:1.000 pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 59 0 0 33 15 31.25 SPG20 0 genome.wustl.edu 37 13 36909426 36909426 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 36909426 36909426 C - DEL SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_del c.542 p.G181fs 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 128 0 0 74 15 16.8539 ELF1 0 genome.wustl.edu 37 13 41556277 41556277 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 41556277 41556277 A - DEL ELF1 ENST00000498824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ELF1 HGNC ENSG00000120690 32 0 0 28 12 30 MTRF1 0 genome.wustl.edu 37 13 41826691 41826691 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 41826691 41826691 A - DEL MTRF1 ENST00000239852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTRF1 HGNC ENSG00000120662 11 0 0 15 10 40 EBPL 0 genome.wustl.edu 37 13 50235209 50235210 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 50235209 50235210 AA - DEL EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_del c.516_515 p.F172fs 0.997:1.000 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 92 0 0 58 11 15.942 VPS36 0 genome.wustl.edu 37 13 52999942 52999942 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 52999942 52999942 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 20 0 0 11 8 42.1053 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 65 0 0 47 9 16.0714 PIBF1 0 genome.wustl.edu 37 13 73428254 73428254 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 73428254 73428254 A - DEL PIBF1 ENST00000326291 human ensembl 74_37 +1 known frame_shift_del c.1283 p.K429fs 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 114 0 0 70 18 20.4545 ENSG00000261553 0 genome.wustl.edu 37 13 76379967 76379967 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 76379967 76379967 T - DEL ENSG00000261553 ENST00000563635 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-29G8.3 Clone_based_vega_gene ENSG00000261553 175 0 0 111 30 21.2766 MYCBP2 0 genome.wustl.edu 37 13 77671704 77671705 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 77671704 77671705 - T INS MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_ins c.9585_9584 p.K3196fs 1.000:1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 74 0 0 43 16 27.1186 PTMAP5 0 genome.wustl.edu 37 13 82265098 82265098 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 82265098 82265098 T - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PTMAP5 HGNC ENSG00000214182 166 0 0 64 11 14.6667 SLITRK5 0 genome.wustl.edu 37 13 88329586 88329586 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 88329586 88329586 C - DEL SLITRK5 ENST00000325089 human ensembl 74_37 +1 known frame_shift_del c.1943 p.A650fs 0.887 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 116 1 0.854701 89 23 20.5357 DCT 0 genome.wustl.edu 37 13 95095734 95095734 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 13 95095734 95095734 A - DEL DCT ENST00000446125 human ensembl 74_37 -1 known frame_shift_del c.1436 p.L479fs 0.426 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 113 0 0 64 13 16.8831 HSP90AA1 0 genome.wustl.edu 37 14 102548569 102548571 + In_Frame_Del DEL GTC GTC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 102548569 102548571 GTC - DEL HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known in_frame_del c.2334_2332 p.D778in_frame_del 1.000:1.000:1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 259 0 0 125 33 20.8861 CDC42BPB 0 genome.wustl.edu 37 14 103447236 103447237 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 103447236 103447237 - T INS CDC42BPB ENST00000361246 human ensembl 74_37 -1 known frame_shift_ins c.1014_1013 p.H339fs 0.997:0.998 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 183 0 0 64 28 30.4348 CHD8 0 genome.wustl.edu 37 14 21861700 21861702 + In_Frame_Del DEL GAA GAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 21861700 21861702 GAA - DEL CHD8 ENST00000399982 human ensembl 74_37 -1 known in_frame_del c.6254_6252 p.S2088in_frame_del 1.000:1.000:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 31 0 0 8 5 38.4615 TINF2 0 genome.wustl.edu 37 14 24710896 24710897 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 24710896 24710897 - A INS TINF2 ENST00000267415 human ensembl 74_37 -1 known frame_shift_ins c.384_383 p.L128fs 0.025:0.024 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 20 0 0 14 14 50 NYNRIN 0 genome.wustl.edu 37 14 24884963 24884963 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 24884963 24884963 C - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.4008 p.P1338fs 0.054 superfamily_RNaseH-like_dom pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 270 1 0.369004 96 32 25 NYNRIN 0 genome.wustl.edu 37 14 24885916 24885917 + Frame_Shift_Del DEL AC AC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 24885916 24885917 AC - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.4961_4962 p.T1657fs 1.000:1.000 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 76 0 0 29 9 23.6842 BAZ1A 0 genome.wustl.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 35331423 35331423 T - DEL BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_del c.219 p.A74fs 1.000 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 340 1 0.293255 112 46 29.1139 FANCM 0 genome.wustl.edu 37 14 45645142 45645142 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 45645142 45645142 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3185 p.S1064fs 0.612 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 49 0 0 28 16 36.3636 SOS2 0 genome.wustl.edu 37 14 50606661 50606661 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 50606661 50606661 A - DEL SOS2 ENST00000216373 human ensembl 74_37 -1 known frame_shift_del c.2784 p.F928fs 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 61 0 0 22 16 42.1053 SAMD4A 0 genome.wustl.edu 37 14 55255768 55255768 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 55255768 55255768 T - DEL SAMD4A ENST00000553988 human ensembl 74_37 +1 known rna NULL NULL 0.920 - - - no_errors SAMD4A HGNC ENSG00000020577 37 0 0 16 9 36 SOCS4 0 genome.wustl.edu 37 14 55510994 55510996 + In_Frame_Del DEL CTT CTT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 55510994 55510996 CTT - DEL SOCS4 ENST00000339298 human ensembl 74_37 +1 known in_frame_del c.1235_1237 p.S414in_frame_del 1.000:0.882:0.323 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 64 0 0 32 10 23.8095 FBXO34 0 genome.wustl.edu 37 14 55817461 55817461 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 55817461 55817461 A - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.353 p.I120fs 1.000 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 100 0 0 49 10 16.9492 KIAA0586 0 genome.wustl.edu 37 14 58927797 58927797 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 58927797 58927797 A - DEL KIAA0586 ENST00000556134 human ensembl 74_37 +1 known frame_shift_del c.1933 p.G647fs 1.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 35 0 0 17 3 15 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 45 0 0 24 8 25 SNAPC1 0 genome.wustl.edu 37 14 62242911 62242911 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 62242911 62242911 T - DEL SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_del c.633 p.F213fs 0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 69 0 0 31 16 34.0426 PLEKHH1 0 genome.wustl.edu 37 14 68053850 68053850 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 68053850 68053850 C - DEL PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known frame_shift_del c.3993 p.T1334fs 0.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 51 0 0 24 12 33.3333 ERH 0 genome.wustl.edu 37 14 69847231 69847232 + RNA INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 69847231 69847232 - C INS ERH ENST00000216520 human ensembl 74_37 -1 putative rna NULL NULL 0.005:0.000 - - - no_errors ERH HGNC ENSG00000100632 161 1 0.617284 81 23 22.1154 DPF3 0 genome.wustl.edu 37 14 73190445 73190446 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 73190445 73190446 AA - DEL DPF3 ENST00000556238 human ensembl 74_37 -1 known rna NULL NULL 0.887:0.927 - - - no_errors DPF3 HGNC ENSG00000205683 143 0 0 72 17 19.1011 ELMSAN1 0 genome.wustl.edu 37 14 74206623 74206623 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 74206623 74206623 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.89 p.P30fs 0.160 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 142 0 0 47 10 17.5439 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 113 0 0 47 7 12.963 YLPM1 0 genome.wustl.edu 37 14 75265533 75265533 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 75265533 75265533 A - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.3533 p.M1180fs 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 103 1 0.961538 39 12 23.5294 MLH3 0 genome.wustl.edu 37 14 75514338 75514338 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 75514338 75514338 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.2021 p.N674fs 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 126 0 0 79 20 20.202 MLH3 0 genome.wustl.edu 37 14 75514604 75514604 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 75514604 75514604 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.1755 p.E586fs 0.092 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 126 1 0.787402 75 29 27.8846 ATG2B 0 genome.wustl.edu 37 14 96788614 96788615 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 14 96788614 96788615 AA - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG2B HGNC ENSG00000066739 99 0 0 43 11 20.3704 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 247 1 0.403226 98 39 28.4672 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344663 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 25344663 25344663 A - DEL SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-26 HGNC ENSG00000251815 109 0 0 51 16 23.8806 FMN1 0 genome.wustl.edu 37 15 33256350 33256350 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 33256350 33256350 T - DEL FMN1 ENST00000334528 human ensembl 74_37 -1 known frame_shift_del c.2427 p.K809fs 0.994 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 167 0 0 63 21 25 ZNF770 0 genome.wustl.edu 37 15 35273805 35273807 + In_Frame_Del DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 35273805 35273807 AAA - DEL ZNF770 ENST00000356321 human ensembl 74_37 -1 known in_frame_del c.1831_1829 p.F610in_frame_del 0.000:0.000:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 179 0 0 75 37 33.0357 SPATA5L1 0 genome.wustl.edu 37 15 45710841 45710841 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 45710841 45710841 T - DEL SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known frame_shift_del c.2055 p.S688fs 0.999 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 132 0 0 33 21 38.8889 DUT 0 genome.wustl.edu 37 15 48633714 48633714 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 48633714 48633714 A - DEL DUT ENST00000331200 human ensembl 74_37 +1 known frame_shift_del c.634 p.G214fs 1.000 pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC ENSG00000128951 44 0 0 30 12 28.5714 FGF7 0 genome.wustl.edu 37 15 49776643 49776644 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 49776643 49776644 - A INS FGF7 ENST00000267843 human ensembl 74_37 +1 known frame_shift_ins c.527_528 p.T179fs 1.000:0.929 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 68 0 0 39 7 15.2174 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987962 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 51987960 51987962 AAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 18 0 0 7 12 63.1579 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987963 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 51987960 51987963 AAAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011:0.004 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 18 0 0 9 9 50 MYO5C 0 genome.wustl.edu 37 15 52504010 52504011 + Frame_Shift_Ins INS - - CA TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 52504010 52504011 - CA INS MYO5C ENST00000261839 human ensembl 74_37 -1 known frame_shift_ins c.4213_4212 p.R1404fs 0.988:0.525 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 229 0 0 82 32 28.0702 ENSG00000259941 0 genome.wustl.edu 37 15 56686788 56686788 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 56686788 56686788 T - DEL ENSG00000259941 ENST00000564401 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors RP11-48G14.2 Clone_based_vega_gene ENSG00000259941 13 0 0 6 4 40 MNS1 0 genome.wustl.edu 37 15 56736027 56736027 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 56736027 56736027 T - DEL MNS1 ENST00000260453 human ensembl 74_37 -1 known frame_shift_del c.712 p.M238fs 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 108 0 0 33 11 25 TCF12 0 genome.wustl.edu 37 15 57489983 57489984 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 57489983 57489984 - A INS TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_ins c.539_540 p.V183fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 129 0 0 57 25 30.4878 ADAM10 0 genome.wustl.edu 37 15 58902544 58902544 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 58902544 58902544 T - DEL ADAM10 ENST00000260408 human ensembl 74_37 -1 known frame_shift_del c.1977 p.A660fs 0.999 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 165 0 0 55 11 16.6667 FAM63B 0 genome.wustl.edu 37 15 59146784 59146784 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 59146784 59146784 A - DEL FAM63B ENST00000559228 human ensembl 74_37 +1 known frame_shift_del c.1841 p.N616fs 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 118 0 0 34 23 40.3509 TIPIN 0 genome.wustl.edu 37 15 66672095 66672095 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 66672095 66672095 T - DEL TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TIPIN HGNC ENSG00000075131 83 0 0 38 13 25.4902 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 219 0 0 82 36 30.5085 EFTUD1 0 genome.wustl.edu 37 15 82519819 82519819 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 82519819 82519819 A - DEL EFTUD1 ENST00000268206 human ensembl 74_37 -1 known frame_shift_del c.1164 p.P389fs 0.991 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 168 1 0.591716 76 31 28.972 KIF7 0 genome.wustl.edu 37 15 90190209 90190209 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 90190209 90190209 C - DEL KIF7 ENST00000394412 human ensembl 74_37 -1 known frame_shift_del c.1640 p.G547fs 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 41 0 0 20 7 25.9259 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 63 0 0 16 14 46.6667 RGMA 0 genome.wustl.edu 37 15 93595208 93595208 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 93595208 93595208 C - DEL RGMA ENST00000556087 human ensembl 74_37 -1 putative frame_shift_del c.612 p.R205fs 0.000 NULL pfam_RGM_N - no_errors RGMA HGNC ENSG00000182175 16 0 0 4 3 42.8571 SPATA8 0 genome.wustl.edu 37 15 97328285 97328286 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 15 97328285 97328286 - C INS SPATA8 ENST00000328504 human ensembl 74_37 +1 known frame_shift_ins c.256_257 p.L88fs 0.000:0.000 NULL NULL - no_errors SPATA8 HGNC ENSG00000185594 180 0 0 92 27 22.6891 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 120 0 0 31 16 34.0426 CLEC16A 0 genome.wustl.edu 37 16 11141159 11141159 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 11141159 11141159 T - DEL CLEC16A ENST00000409790 human ensembl 74_37 +1 known frame_shift_del c.1826 p.L611fs 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 47 0 0 12 3 20 ZC3H7A 0 genome.wustl.edu 37 16 11864672 11864674 + In_Frame_Del DEL AAG AAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 11864672 11864674 AAG - DEL ZC3H7A ENST00000355758 human ensembl 74_37 -1 known in_frame_del c.1075_1073 p.S358in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 154 0 0 39 18 31.5789 FAHD1 0 genome.wustl.edu 37 16 1877706 1877707 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 1877706 1877707 - G INS FAHD1 ENST00000382666 human ensembl 74_37 +1 known frame_shift_ins c.476_477 p.E161fs 0.994:0.993 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD1 HGNC ENSG00000180185 67 0 0 31 12 27.907 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 28847350 28847350 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2992 p.1002fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 202 0 0 78 27 25.7143 FAM57B 0 genome.wustl.edu 37 16 30041821 30041821 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 30041821 30041821 C - DEL FAM57B ENST00000380495 human ensembl 74_37 -1 known frame_shift_del c.28 p.V10fs 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 35 0 0 12 2 14.2857 HCFC1R1 0 genome.wustl.edu 37 16 3073266 3073266 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3073266 3073266 G - DEL HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known frame_shift_del c.249 p.M84fs 0.001 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 111 0 0 43 12 21.8182 THOC6 0 genome.wustl.edu 37 16 3075953 3075954 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3075953 3075954 AA - DEL THOC6 ENST00000326266 human ensembl 74_37 +1 known frame_shift_del c.184_185 p.K62fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC6 HGNC ENSG00000131652 255 0 0 75 39 34.2105 MMP25 0 genome.wustl.edu 37 16 3108634 3108634 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3108634 3108634 C - DEL MMP25 ENST00000336577 human ensembl 74_37 +1 known frame_shift_del c.1381 p.S463fs 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 27 0 0 5 3 37.5 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 35 0 0 21 4 16 OR1F1 0 genome.wustl.edu 37 16 3254715 3254717 + In_Frame_Del DEL CTT CTT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 3254715 3254717 CTT - DEL OR1F1 ENST00000304646 human ensembl 74_37 +1 known in_frame_del c.469_471 p.L158in_frame_del 0.306:0.307:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 204 0 0 110 37 25.1701 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 20 0 0 20 6 23.0769 ABCC11 0 genome.wustl.edu 37 16 48264405 48264405 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 48264405 48264405 G - DEL ABCC11 ENST00000356608 human ensembl 74_37 -1 known frame_shift_del c.179 p.P60fs 0.001 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 55 0 0 21 2 8.69565 ADCY7 0 genome.wustl.edu 37 16 50338374 50338374 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 50338374 50338374 G - DEL ADCY7 ENST00000254235 human ensembl 74_37 +1 known frame_shift_del c.1472 p.A493fs 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 134 0 0 62 17 21.519 NKD1 0 genome.wustl.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 50667134 50667135 - C INS NKD1 ENST00000268459 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.R287fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 143 0 0 60 17 22.0779 SALL1 0 genome.wustl.edu 37 16 51175930 51175930 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 51175930 51175930 T - DEL SALL1 ENST00000251020 human ensembl 74_37 -1 known frame_shift_del c.203 p.N68fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 224 0 0 59 35 37.234 HERPUD1 0 genome.wustl.edu 37 16 56969317 56969317 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 56969317 56969317 A - DEL HERPUD1 ENST00000439977 human ensembl 74_37 +1 known frame_shift_del c.230 p.K78fs 0.999 pfam_Ubiquitin_dom,smart_Ubiquitin_dom pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD1 HGNC ENSG00000051108 126 0 0 77 30 28.0374 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 225 0 0 89 29 24.5763 CTCF 0 genome.wustl.edu 37 16 67645339 67645339 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 67645339 67645339 A - DEL CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_del c.604 p.T204fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 144 0 0 55 22 28.5714 DHX38 0 genome.wustl.edu 37 16 72137034 72137036 + In_Frame_Del DEL AAG AAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 72137034 72137036 AAG - DEL DHX38 ENST00000268482 human ensembl 74_37 +1 known in_frame_del c.1561_1563 p.K523in_frame_del 0.998:1.000:0.999 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 141 0 0 53 13 19.697 ZFHX3 0 genome.wustl.edu 37 16 72830902 72830903 + Frame_Shift_Ins INS - - CT TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 72830902 72830903 - CT INS ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_ins c.5679_5678 p.D1894fs 0.999:0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 93 0 0 42 12 22.2222 ADAT1 0 genome.wustl.edu 37 16 75634035 75634035 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 75634035 75634035 A - DEL ADAT1 ENST00000568478 human ensembl 74_37 -1 known rna NULL NULL 0.133 - - - no_errors ADAT1 HGNC ENSG00000065457 111 0 0 40 17 29.8246 TLDC1 0 genome.wustl.edu 37 16 84514303 84514303 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 84514303 84514303 C - DEL TLDC1 ENST00000343629 human ensembl 74_37 -1 known frame_shift_del c.1089 p.Q364fs 0.148 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 81 0 0 36 16 30.7692 FAM92B 0 genome.wustl.edu 37 16 85135923 85135924 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 85135923 85135924 - A INS FAM92B ENST00000539556 human ensembl 74_37 -1 known frame_shift_ins c.548_547 p.C183fs 0.000:0.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 80 0 0 28 14 33.3333 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 49 0 0 12 4 25 VPS9D1 0 genome.wustl.edu 37 16 89778932 89778933 + Splice_Site INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 89778932 89778933 - G INS VPS9D1 ENST00000389386 human ensembl 74_37 -1 known splice_site_ins c.544-3_544-2 e6-2 0.999:0.042 - - - no_errors VPS9D1 HGNC ENSG00000075399 122 1 0.813008 28 11 28.2051 USP7 0 genome.wustl.edu 37 16 9000392 9000392 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 16 9000392 9000392 G - DEL USP7 ENST00000344836 human ensembl 74_37 -1 known frame_shift_del c.1319 p.T440fs 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 83 0 0 35 10 22.2222 MYH1 0 genome.wustl.edu 37 17 10408152 10408152 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 10408152 10408152 T - DEL MYH1 ENST00000226207 human ensembl 74_37 -1 known frame_shift_del c.2666 p.N889fs 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 89 0 0 35 18 33.9623 LOC100128006 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 12663850 12663850 A - DEL LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 9 0 0 7 3 30 CRK 0 genome.wustl.edu 37 17 1326755 1326757 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 1326755 1326757 AAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010 - - - no_errors CRK HGNC ENSG00000167193 55 0 0 21 17 44.7368 NT5M 0 genome.wustl.edu 37 17 17250190 17250190 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 17250190 17250190 C - DEL NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_del c.616 p.R208fs 1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 105 0 0 27 14 34.1463 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 228 0 0 46 79 63.2 METTL16 0 genome.wustl.edu 37 17 2371076 2371076 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 2371076 2371076 A - DEL METTL16 ENST00000263092 human ensembl 74_37 -1 known frame_shift_del c.564 p.F188fs 0.999 pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 158 0 0 96 6 5.88235 PAFAH1B1 0 genome.wustl.edu 37 17 2570628 2570628 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 2570628 2570628 A - DEL PAFAH1B1 ENST00000397193 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 9 0 0 10 2 16.6667 CLUH 0 genome.wustl.edu 37 17 2604055 2604055 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 2604055 2604055 G - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.976 p.Q326fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 83 0 0 27 10 27.027 FOXN1 0 genome.wustl.edu 37 17 26854365 26854365 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 26854365 26854365 C - DEL FOXN1 ENST00000226247 human ensembl 74_37 +1 known frame_shift_del c.685 p.F231fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 34 0 0 16 6 27.2727 PROCA1 0 genome.wustl.edu 37 17 27030601 27030601 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 27030601 27030601 G - DEL PROCA1 ENST00000439862 human ensembl 74_37 -1 known frame_shift_del c.992 p.P331fs 1.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 227 0 0 86 20 18.8679 FAM222B 0 genome.wustl.edu 37 17 27086258 27086258 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 27086258 27086258 G - DEL FAM222B ENST00000341217 human ensembl 74_37 -1 known frame_shift_del c.719 p.P240fs 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 51 0 0 16 4 20 ENSG00000265289 0 genome.wustl.edu 37 17 28386481 28386482 + RNA INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 28386481 28386482 - T INS ENSG00000265289 ENST00000583250 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC104984.4 Clone_based_vega_gene ENSG00000265289 51 0 0 23 8 25.8065 ENSG00000224113 0 genome.wustl.edu 37 17 33332660 33332660 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 33332660 33332660 T - DEL ENSG00000224113 ENST00000415412 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP5-837J1.2 Clone_based_vega_gene ENSG00000224113 54 0 0 23 16 41.0256 SLFN5 0 genome.wustl.edu 37 17 33592101 33592101 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 33592101 33592101 A - DEL SLFN5 ENST00000299977 human ensembl 74_37 +1 known frame_shift_del c.1870 p.N625fs 0.038 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 126 0 0 67 20 22.9885 SLFN13 0 genome.wustl.edu 37 17 33768996 33768996 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 33768996 33768996 C - DEL SLFN13 ENST00000285013 human ensembl 74_37 -1 known frame_shift_del c.1508 p.G503fs 0.052 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 134 0 0 64 9 12.3288 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 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 LHX1 HGNC ENSG00000132130 39 0 0 12 6 33.3333 ENSG00000272191 0 genome.wustl.edu 37 17 35300495 35300497 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 35300495 35300497 AAA - DEL ENSG00000272191 ENST00000607336 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.005:0.001 - - - no_errors RP11-445F12.2 Clone_based_vega_gene ENSG00000272191 24 0 0 5 6 54.5455 HNF1B 0 genome.wustl.edu 37 17 36059173 36059174 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 36059173 36059174 - G INS HNF1B ENST00000225893 human ensembl 74_37 -1 known frame_shift_ins c.1562_1561 p.Q521fs 1.000:1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 102 0 0 33 10 23.2558 GPR179 0 genome.wustl.edu 37 17 36485586 36485586 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 36485586 36485586 T - DEL GPR179 ENST00000342292 human ensembl 74_37 -1 known frame_shift_del c.3866 p.K1289fs 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 82 0 0 41 16 28.0702 GRB7 0 genome.wustl.edu 37 17 37898534 37898535 + Frame_Shift_Del DEL CC CC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 37898534 37898535 CC - DEL GRB7 ENST00000445327 human ensembl 74_37 +1 known frame_shift_del c.49_50 p.S19fs 0.000:0.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 458 0 0 159 33 17.1875 KRT24 0 genome.wustl.edu 37 17 38859835 38859836 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 38859835 38859836 - C INS KRT24 ENST00000264651 human ensembl 74_37 -1 known frame_shift_ins c.111_110 p.S38fs 0.003:0.984 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 129 0 0 67 21 23.8636 NAGLU 0 genome.wustl.edu 37 17 40690427 40690427 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 40690427 40690427 G - DEL NAGLU ENST00000225927 human ensembl 74_37 +1 known frame_shift_del c.602 p.R203fs 1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 241 0 0 110 30 21.4286 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 61 0 0 22 6 21.4286 GJC1 0 genome.wustl.edu 37 17 42882323 42882323 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 42882323 42882323 G - DEL GJC1 ENST00000330514 human ensembl 74_37 -1 known frame_shift_del c.863 p.P288fs 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 294 1 0.338983 136 39 22.2857 ENSG00000233175 0 genome.wustl.edu 37 17 43317770 43317770 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 43317770 43317770 G - DEL ENSG00000233175 ENST00000393507 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 35 0 0 20 9 31.0345 GP1BA 0 genome.wustl.edu 37 17 4837373 4837373 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 4837373 4837373 A - DEL GP1BA ENST00000329125 human ensembl 74_37 +1 known frame_shift_del c.1474 p.T494fs 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 179 1 0.555556 49 18 26.8657 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 145 1 0.684932 54 20 27.027 COIL 0 genome.wustl.edu 37 17 55028015 55028016 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 55028015 55028016 - T INS COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_ins c.588_587 p.A197fs 0.024:0.030 NULL NULL - no_errors COIL HGNC ENSG00000121058 137 0 0 90 27 23.0769 RNF43 0 genome.wustl.edu 37 17 56448297 56448298 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 56448297 56448298 - G INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.350_349 p.R117fs 1.000:1.000 superfamily_PAS pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 121 0 0 46 9 16.3636 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 57 0 0 34 13 27.6596 STRADA 0 genome.wustl.edu 37 17 61781804 61781804 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 61781804 61781804 G - DEL STRADA ENST00000336174 human ensembl 74_37 -1 known frame_shift_del c.997 p.R333fs 0.626 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 78 0 0 40 15 27.2727 SCN4A 0 genome.wustl.edu 37 17 62038770 62038770 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 62038770 62038770 T - DEL SCN4A ENST00000435607 human ensembl 74_37 -1 known frame_shift_del c.1628 p.K543fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 360 0 0 110 38 25.6757 CEP95 0 genome.wustl.edu 37 17 62517549 62517549 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 62517549 62517549 A - DEL CEP95 ENST00000556440 human ensembl 74_37 +1 known frame_shift_del c.619 p.A209fs 0.255 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 41 0 0 25 7 21.875 AMZ2P1 0 genome.wustl.edu 37 17 62969193 62969193 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 62969193 62969193 A - DEL AMZ2P1 ENST00000397713 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AMZ2P1 HGNC ENSG00000214174 12 0 0 11 4 26.6667 SLC13A5 0 genome.wustl.edu 37 17 6596457 6596457 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 6596457 6596457 G - DEL SLC13A5 ENST00000433363 human ensembl 74_37 -1 known frame_shift_del c.1181 p.P394fs 0.480 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 56 0 0 25 4 13.7931 SLC16A11 0 genome.wustl.edu 37 17 6945482 6945482 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 6945482 6945482 C - DEL SLC16A11 ENST00000308009 human ensembl 74_37 -1 known frame_shift_del c.1019 p.G340fs 0.191 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 11 0 0 5 5 50 SDK2 0 genome.wustl.edu 37 17 71394281 71394282 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 71394281 71394282 - G INS SDK2 ENST00000392650 human ensembl 74_37 -1 known frame_shift_ins c.3247_3246 p.S1082fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 97 0 0 36 8 18.1818 SRP68 0 genome.wustl.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74068528 74068530 GCC - DEL SRP68 ENST00000307877 human ensembl 74_37 -1 known in_frame_del c.45_43 p.G15in_frame_del 0.001:0.005:0.001 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 54 0 0 67 4 5.6338 SNHG16 0 genome.wustl.edu 37 17 74557821 74557821 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74557821 74557821 T - DEL SNHG16 ENST00000591956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 56 0 0 23 2 8 MXRA7 0 genome.wustl.edu 37 17 74684316 74684316 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 74684316 74684316 G - DEL MXRA7 ENST00000592148 human ensembl 74_37 -1 putative frame_shift_del c.414 p.T139fs 0.000 NULL NULL - no_errors MXRA7 HGNC ENSG00000182534 29 0 0 12 5 29.4118 TMC8 0 genome.wustl.edu 37 17 76134254 76134256 + In_Frame_Del DEL CTT CTT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76134254 76134256 CTT - DEL TMC8 ENST00000318430 human ensembl 74_37 +1 known in_frame_del c.1518_1520 p.F507in_frame_del 0.999:1.000:1.000 pfam_TMC pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 102 0 0 44 23 34.3284 BIRC5 0 genome.wustl.edu 37 17 76210416 76210416 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76210416 76210416 C - DEL BIRC5 ENST00000301633 human ensembl 74_37 +1 known frame_shift_del c.19 p.P8fs 0.983 NULL pfam_BIR,smart_BIR,pfscan_BIR - no_errors BIRC5 HGNC ENSG00000089685 44 0 0 21 5 19.2308 DNAH2 0 genome.wustl.edu 37 17 7678253 7678253 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7678253 7678253 A - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.4678 p.K1561fs 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 83 0 0 49 15 23.4375 DNAH2 0 genome.wustl.edu 37 17 7678590 7678591 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 7678590 7678591 - G INS DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_ins c.4751_4752 p.M1586fs 0.694:0.707 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 33 0 0 20 6 23.0769 ENSG00000267601 0 genome.wustl.edu 37 17 76851711 76851711 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76851711 76851711 T - DEL ENSG00000267601 ENST00000587434 human ensembl 74_37 +1 known rna NULL NULL 0.655 - - - no_errors RP11-323N12.5 Clone_based_vega_gene ENSG00000267601 29 0 0 12 6 33.3333 CANT1 0 genome.wustl.edu 37 17 76993149 76993149 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 76993149 76993149 C - DEL CANT1 ENST00000302345 human ensembl 74_37 -1 known frame_shift_del c.556 p.V186fs 1.000 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 334 1 0.298507 163 53 24.537 CBX4 0 genome.wustl.edu 37 17 77808241 77808243 + In_Frame_Del DEL GTG GTG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 77808241 77808243 GTG - DEL CBX4 ENST00000269397 human ensembl 74_37 -1 known in_frame_del c.1200_1198 p.H400in_frame_del 0.632:0.816:0.840 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 14 0 0 6 6 50 ENSG00000260005 0 genome.wustl.edu 37 17 79205498 79205498 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 79205498 79205498 G - DEL ENSG00000260005 ENST00000575922 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000260005 20 0 0 11 6 35.2941 BAHCC1 0 genome.wustl.edu 37 17 79409593 79409593 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 79409593 79409593 C - DEL BAHCC1 ENST00000307745 human ensembl 74_37 +1 known frame_shift_del c.1218 p.F408fs 0.955 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 42 0 0 18 6 25 CTC1 0 genome.wustl.edu 37 17 8141829 8141829 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 8141829 8141829 G - DEL CTC1 ENST00000315684 human ensembl 74_37 -1 known frame_shift_del c.316 p.L106fs 0.360 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 191 0 0 79 35 30.7018 PFAS 0 genome.wustl.edu 37 17 8172400 8172400 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 8172400 8172400 G - DEL PFAS ENST00000314666 human ensembl 74_37 +1 known frame_shift_del c.3835 p.G1280fs 0.966 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 129 0 0 41 23 35.9375 RCVRN 0 genome.wustl.edu 37 17 9801335 9801336 + RNA INS - - TG TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 17 9801335 9801336 - TG INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 64 0 0 49 13 20.9677 CXADRP3 0 genome.wustl.edu 37 18 14478662 14478662 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 14478662 14478662 T - DEL CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.487 - - - no_errors CXADRP3 HGNC ENSG00000265766 40 0 0 32 7 17.9487 RBBP8 0 genome.wustl.edu 37 18 20572907 20572908 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 20572907 20572908 - A INS RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_ins c.1117_1118 p.T375fs 0.966:0.962 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 155 0 0 67 14 17.284 DSC2 0 genome.wustl.edu 37 18 28669460 28669461 + Frame_Shift_Del DEL TC TC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 28669460 28669461 TC - DEL DSC2 ENST00000280904 human ensembl 74_37 -1 known frame_shift_del c.572_571 p.D191fs 1.000:1.000 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,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 114 0 0 45 12 21.0526 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 34 0 0 14 5 26.3158 COLEC12 0 genome.wustl.edu 37 18 331763 331763 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 331763 331763 T - DEL COLEC12 ENST00000400256 human ensembl 74_37 -1 known frame_shift_del c.1968 p.K656fs 0.873 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 38 0 0 13 9 40.9091 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 111 0 0 32 16 33.3333 PIAS2 0 genome.wustl.edu 37 18 44470593 44470593 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 44470593 44470593 T - DEL PIAS2 ENST00000585916 human ensembl 74_37 -1 known frame_shift_del c.449 p.N150fs 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 72 0 0 21 14 40 ZBTB7C 0 genome.wustl.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 45567076 45567076 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.403 p.E135fs 0.994 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 42 0 0 22 14 38.8889 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335789 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 55335787 55335789 AAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 32 0 0 27 3 10 LMAN1 0 genome.wustl.edu 37 18 57013284 57013285 + Splice_Site INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 57013284 57013285 - T INS LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_ins c.823-2_823-1 e8-1 1.000:1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 184 1 0.540541 84 27 24.3243 SERPINB10 0 genome.wustl.edu 37 18 61584738 61584739 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 61584738 61584739 - A INS SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_ins c.217_218 p.R76fs 0.991:0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 44 0 0 10 8 44.4444 CBLN2 0 genome.wustl.edu 37 18 70205457 70205457 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 70205457 70205457 C - DEL CBLN2 ENST00000269503 human ensembl 74_37 -1 known frame_shift_del c.629 p.G210fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 200 0 0 64 25 28.0899 SOGA2 0 genome.wustl.edu 37 18 8825313 8825314 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 8825313 8825314 - C INS SOGA2 ENST00000359865 human ensembl 74_37 +1 known frame_shift_ins c.3805_3806 p.L1271fs 0.991:0.993 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 81 0 0 32 9 21.9512 ANKRD12 0 genome.wustl.edu 37 18 9255185 9255186 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 9255185 9255186 - A INS ANKRD12 ENST00000262126 human ensembl 74_37 +1 known frame_shift_ins c.1920_1921 p.M642fs 0.997:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 96 0 0 57 18 24 ANKRD12 0 genome.wustl.edu 37 18 9256062 9256062 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 18 9256062 9256062 A - DEL ANKRD12 ENST00000262126 human ensembl 74_37 +1 known frame_shift_del c.2797 p.N935fs 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 23 0 0 12 6 33.3333 GRIN3B 0 genome.wustl.edu 37 19 1007861 1007861 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 1007861 1007861 C - DEL GRIN3B ENST00000234389 human ensembl 74_37 +1 known frame_shift_del c.2205 p.K738fs 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 38 0 0 9 10 52.6316 LPPR2 0 genome.wustl.edu 37 19 11470601 11470601 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11470601 11470601 C - DEL LPPR2 ENST00000591608 human ensembl 74_37 +1 known frame_shift_del c.285 p.P97fs 0.998 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 61 0 0 21 9 30 RGL3 0 genome.wustl.edu 37 19 11527450 11527450 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11527450 11527450 G - DEL RGL3 ENST00000563436 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RGL3 HGNC ENSG00000205517 67 0 0 50 18 26.4706 ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 26 0 0 11 8 42.1053 ZNF878 0 genome.wustl.edu 37 19 12155625 12155625 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 12155625 12155625 T - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.999 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 ZNF878 HGNC ENSG00000257446 373 0 0 140 38 21.3483 ZNF443 0 genome.wustl.edu 37 19 12542364 12542364 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 12542364 12542364 A - DEL ZNF443 ENST00000301547 human ensembl 74_37 -1 known frame_shift_del c.622 p.W208fs 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 318 0 0 155 43 21.7172 FARSA 0 genome.wustl.edu 37 19 13039163 13039165 + In_Frame_Del DEL GAA GAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 13039163 13039165 GAA - DEL FARSA ENST00000314606 human ensembl 74_37 -1 known in_frame_del c.834_832 p.F278in_frame_del 1.000:1.000:1.000 pfam_Phenylalanyl-tRNA_Synthase,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 107 0 0 31 11 26.1905 GIPC1 0 genome.wustl.edu 37 19 14593639 14593640 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14593639 14593640 - G INS GIPC1 ENST00000345425 human ensembl 74_37 -1 known frame_shift_ins c.150_149 p.P51fs 0.048:0.995 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 14 0 0 9 2 18.1818 CLEC17A 0 genome.wustl.edu 37 19 14703100 14703102 + In_Frame_Del DEL GGA GGA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 14703100 14703102 GGA - DEL CLEC17A ENST00000417570 human ensembl 74_37 +1 known in_frame_del c.207_209 p.E73in_frame_del 0.001:0.001:0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 55 0 0 14 4 22.2222 SYDE1 0 genome.wustl.edu 37 19 15224500 15224501 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 15224500 15224501 - C INS SYDE1 ENST00000342784 human ensembl 74_37 +1 known frame_shift_ins c.1934_1935 p.S648fs 1.000:1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 210 0 0 74 29 28.1553 OR10H1 0 genome.wustl.edu 37 19 15918460 15918460 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 15918460 15918460 G - DEL OR10H1 ENST00000334920 human ensembl 74_37 -1 known frame_shift_del c.388 p.L130fs 0.952 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 133 0 0 59 17 22.3684 CHERP 0 genome.wustl.edu 37 19 16640563 16640564 + In_Frame_Ins INS - - GCT TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 16640563 16640564 - GCT INS CHERP ENST00000546361 human ensembl 74_37 -1 known in_frame_ins c.1025_1024 p.342in_frame_insQ 0.467:0.463 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 46 0 0 19 8 29.6296 NWD1 0 genome.wustl.edu 37 19 16860457 16860457 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 16860457 16860457 C - DEL NWD1 ENST00000379808 human ensembl 74_37 +1 known frame_shift_del c.1004 p.L337fs 0.000 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 137 0 0 49 12 19.6721 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 52 0 0 20 6 23.0769 TSHZ3 0 genome.wustl.edu 37 19 31770238 31770240 + In_Frame_Del DEL CTG CTG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 31770238 31770240 CTG - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known in_frame_del c.461_459 p.S157in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 49 0 0 21 12 36.3636 MFSD12 0 genome.wustl.edu 37 19 3542859 3542859 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 3542859 3542859 G - DEL MFSD12 ENST00000398558 human ensembl 74_37 -1 known frame_shift_del c.1537 p.L513fs 0.004 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 96 0 0 29 16 35.5556 GIPC3 0 genome.wustl.edu 37 19 3589527 3589527 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 3589527 3589527 G - DEL GIPC3 ENST00000322315 human ensembl 74_37 +1 known frame_shift_del c.679 p.A229fs 0.803 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 124 0 0 43 9 17.3077 GAPDHS 0 genome.wustl.edu 37 19 36033263 36033264 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 36033263 36033264 - A INS GAPDHS ENST00000222286 human ensembl 74_37 +1 known frame_shift_ins c.492_493 p.Y164fs 0.989:1.000 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 93 0 0 33 7 17.5 KMT2B 0 genome.wustl.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 36223002 36223002 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5631 p.G1879fs 0.997 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 21 0 0 6 3 33.3333 ZNF570 0 genome.wustl.edu 37 19 37974994 37974994 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 37974994 37974994 T - DEL ZNF570 ENST00000330173 human ensembl 74_37 +1 known frame_shift_del c.470 p.F158fs 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 ZNF570 HGNC ENSG00000171827 351 0 0 120 44 26.8293 ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.855 p.C288fs 0.222 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 ZNF793 HGNC ENSG00000188227 68 0 0 19 6 24 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 0.001 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 ZNF540 HGNC ENSG00000171817 213 0 0 71 23 24.4681 FAM98C 0 genome.wustl.edu 37 19 38899415 38899416 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 38899415 38899416 - G INS FAM98C ENST00000252530 human ensembl 74_37 +1 known frame_shift_ins c.943_944 p.R318fs 1.000:1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 157 0 0 69 14 16.8675 HNRNPL 0 genome.wustl.edu 37 19 39330869 39330869 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 39330869 39330869 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1100 p.P367fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 19 0 0 14 2 12.5 EGLN2 0 genome.wustl.edu 37 19 41306783 41306783 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 41306783 41306783 G - DEL EGLN2 ENST00000303961 human ensembl 74_37 +1 known frame_shift_del c.306 p.C104fs 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 24 0 0 29 7 19.4444 CYP2F1 0 genome.wustl.edu 37 19 41631481 41631481 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 41631481 41631481 T - DEL CYP2F1 ENST00000331105 human ensembl 74_37 +1 known frame_shift_del c.1236 p.L414fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 223 0 0 191 14 6.82927 MEGF8 0 genome.wustl.edu 37 19 42847703 42847703 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 42847703 42847703 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.1588 p.Y532fs 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 77 0 0 26 12 31.5789 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 39 0 0 11 17 60.7143 CLASRP 0 genome.wustl.edu 37 19 45556129 45556129 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 45556129 45556129 C - DEL CLASRP ENST00000221455 human ensembl 74_37 +1 known frame_shift_del c.278 p.P95fs 0.989 pfam_SWAP_N_domain pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 138 0 0 63 17 21.25 FOSB 0 genome.wustl.edu 37 19 45976070 45976070 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 45976070 45976070 C - DEL FOSB ENST00000353609 human ensembl 74_37 +1 known frame_shift_del c.817 p.N275fs 0.986 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 65 0 0 42 15 26.3158 GLTSCR1 0 genome.wustl.edu 37 19 48198190 48198190 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 48198190 48198190 G - DEL GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_del c.2929 p.A979fs 0.010 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 44 0 0 12 8 40 PLA2G4C 0 genome.wustl.edu 37 19 48588317 48588317 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 48588317 48588317 A - DEL PLA2G4C ENST00000599111 human ensembl 74_37 -1 known frame_shift_del c.873 p.F291fs 0.095 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 101 0 0 40 11 21.5686 ZNF114 0 genome.wustl.edu 37 19 48789818 48789818 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 48789818 48789818 T - DEL ZNF114 ENST00000315849 human ensembl 74_37 +1 known frame_shift_del c.937 p.Y315fs 0.070 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 149 0 0 64 21 24.7059 FAM83E 0 genome.wustl.edu 37 19 49107037 49107038 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49107037 49107038 - G INS FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.Q297fs 0.000:0.001 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 42 0 0 29 5 14.7059 SPHK2 0 genome.wustl.edu 37 19 49131657 49131657 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49131657 49131657 C - DEL SPHK2 ENST00000340932 human ensembl 74_37 +1 known frame_shift_del c.854 p.S287fs 0.000 smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 77 0 0 36 7 16.2791 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 121 1 0.819672 79 24 23.301 KCNA7 0 genome.wustl.edu 37 19 49573738 49573738 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 49573738 49573738 A - DEL KCNA7 ENST00000221444 human ensembl 74_37 -1 known frame_shift_del c.953 p.F318fs 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 63 0 0 39 17 30.3571 AKT1S1 0 genome.wustl.edu 37 19 50373232 50373233 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 50373232 50373233 - C INS AKT1S1 ENST00000344175 human ensembl 74_37 -1 known frame_shift_ins c.713_712 p.D238fs 1.000:1.000 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 11 0 0 3 3 50 MYH14 0 genome.wustl.edu 37 19 50771562 50771564 + In_Frame_Del DEL GAG GAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 50771562 50771564 GAG - DEL MYH14 ENST00000262269 human ensembl 74_37 +1 known in_frame_del c.2971_2973 p.E994in_frame_del 1.000:1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 28 0 0 5 2 28.5714 KLK1 0 genome.wustl.edu 37 19 51326963 51326963 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 51326963 51326963 C - DEL KLK1 ENST00000301420 human ensembl 74_37 -1 known frame_shift_del c.42 p.T15fs 0.099 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 59 0 0 39 12 23.5294 ZNF600 0 genome.wustl.edu 37 19 53270553 53270553 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 53270553 53270553 T - DEL ZNF600 ENST00000338230 human ensembl 74_37 -1 known frame_shift_del c.456 p.K152fs 0.065 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 254 0 0 181 46 20.2643 LILRA4 0 genome.wustl.edu 37 19 54844919 54844919 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 54844919 54844919 G - DEL LILRA4 ENST00000291759 human ensembl 74_37 -1 known frame_shift_del c.1424 p.P475fs 0.004 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 95 0 0 117 16 12.0301 ZNF587B 0 genome.wustl.edu 37 19 58353545 58353546 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 58353545 58353546 - T INS ZNF587B ENST00000594901 human ensembl 74_37 +1 novel frame_shift_ins c.1503_1504 p.R503fs 0.422:0.241 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 ZNF587B HGNC ENSG00000269343 60 0 0 49 11 18.3333 SNAPC2 0 genome.wustl.edu 37 19 7987438 7987438 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 7987438 7987438 C - DEL SNAPC2 ENST00000221573 human ensembl 74_37 +1 known frame_shift_del c.794 p.Q267fs 0.410 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 122 0 0 51 15 22.7273 OR7G3 0 genome.wustl.edu 37 19 9236991 9236992 + Frame_Shift_Del DEL AG AG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 19 9236991 9236992 AG - DEL OR7G3 ENST00000305444 human ensembl 74_37 -1 known frame_shift_del c.636_635 p.S212fs 0.010:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 194 0 0 64 25 28.0899 SLC9A2 0 genome.wustl.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 103324746 103324746 C - DEL SLC9A2 ENST00000233969 human ensembl 74_37 +1 known frame_shift_del c.2237 p.P748fs 0.000 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 336 1 0.296736 106 41 27.8912 TMEM182 0 genome.wustl.edu 37 2 103431478 103431479 + RNA INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 103431478 103431479 - T INS TMEM182 ENST00000488134 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors TMEM182 HGNC ENSG00000170417 24 0 0 17 7 29.1667 NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 74_37 -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 176 0 0 70 20 22.2222 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 163 0 0 33 36 52.1739 PTPN4 0 genome.wustl.edu 37 2 120677766 120677766 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 120677766 120677766 A - DEL PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_del c.950 p.K318fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 209 0 0 75 31 29.2453 IWS1 0 genome.wustl.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 128238676 128238676 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.2404 p.S802fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 162 0 0 72 19 20.8791 POTEJ 0 genome.wustl.edu 37 2 131414272 131414272 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 131414272 131414272 A - DEL POTEJ ENST00000409602 human ensembl 74_37 +1 novel frame_shift_del c.1939 p.K649fs 0.001 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 104 0 0 63 7 10 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 174 1 0.571429 29 53 64.6341 RIF1 0 genome.wustl.edu 37 2 152322592 152322592 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 152322592 152322592 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.6558 p.R2188fs 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 137 0 0 66 23 25.8427 COBLL1 0 genome.wustl.edu 37 2 165551602 165551602 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 165551602 165551602 T - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2615 p.K872fs 0.001 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 183 0 0 84 30 26.3158 COBLL1 0 genome.wustl.edu 37 2 165578962 165578962 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 165578962 165578962 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.930 p.Q311fs 0.999 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 121 1 0.819672 50 15 23.0769 NOSTRIN 0 genome.wustl.edu 37 2 169717340 169717340 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 169717340 169717340 T - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.1386 p.L464fs 0.722 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 174 0 0 46 19 29.2308 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 41 0 0 13 4 23.5294 MLK7-AS1 0 genome.wustl.edu 37 2 174062720 174062721 + RNA INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 174062720 174062721 - A INS MLK7-AS1 ENST00000423106 human ensembl 74_37 -1 known rna NULL NULL 0.999:1.000 - - - no_errors MLK7-AS1 HGNC ENSG00000238133 63 0 0 33 12 26.6667 ZAK 0 genome.wustl.edu 37 2 174081950 174081950 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 174081950 174081950 A - DEL ZAK ENST00000375213 human ensembl 74_37 +1 known frame_shift_del c.959 p.K321fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 119 0 0 33 13 28.2609 KIAA1715 0 genome.wustl.edu 37 2 176857112 176857112 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 176857112 176857112 T - DEL KIAA1715 ENST00000544803 human ensembl 74_37 -1 known frame_shift_del c.104 p.N35fs 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 68 0 0 19 11 36.6667 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 73 0 0 34 15 30.6122 NUP35 0 genome.wustl.edu 37 2 184025805 184025805 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 184025805 184025805 A - DEL NUP35 ENST00000295119 human ensembl 74_37 +1 known frame_shift_del c.927 p.D312fs 0.996 pirsf_Nucleoporin_NUP53 pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53 - no_errors NUP35 HGNC ENSG00000163002 70 0 0 20 10 33.3333 ITGAV 0 genome.wustl.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 187521084 187521085 - G INS ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_ins c.1675_1676 p.L562fs 0.568:0.609 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 338 0 0 105 24 18.6047 ITGAV 0 genome.wustl.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 187521085 187521085 G - DEL ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_del c.1676 p.G561fs 0.609 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 337 1 0.295858 106 23 17.8295 CARF 0 genome.wustl.edu 37 2 203848308 203848308 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 203848308 203848308 A - DEL CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_del c.2139 p.T716fs 0.979 NULL NULL - no_errors CARF HGNC ENSG00000138380 123 0 0 35 24 40.678 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 82 0 0 28 14 33.3333 CRYGB 0 genome.wustl.edu 37 2 209010499 209010499 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 209010499 209010499 G - DEL CRYGB ENST00000260988 human ensembl 74_37 -1 known frame_shift_del c.251 p.P84fs 0.011 superfamily_G_crystallin-rel pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 186 0 0 86 20 18.8679 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 212 0 0 94 33 25.9843 ABCA12 0 genome.wustl.edu 37 2 215884317 215884317 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 215884317 215884317 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.1491 p.V498fs 0.826 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 65 0 0 39 21 35 ASIC4 0 genome.wustl.edu 37 2 220399935 220399935 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 220399935 220399935 C - DEL ASIC4 ENST00000347842 human ensembl 74_37 +1 known frame_shift_del c.1442 p.C483fs 0.992 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 66 0 0 32 10 23.8095 CUL3 0 genome.wustl.edu 37 2 225368388 225368388 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 225368388 225368388 T - DEL CUL3 ENST00000264414 human ensembl 74_37 -1 known frame_shift_del c.1358 p.N453fs 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 40 0 0 32 5 13.5135 IRS1 0 genome.wustl.edu 37 2 227661217 227661217 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 227661217 227661217 G - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.2238 p.S747fs 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 403 0 0 137 48 25.9459 SH3BP4 0 genome.wustl.edu 37 2 235949994 235949994 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 235949994 235949994 T - DEL SH3BP4 ENST00000344528 human ensembl 74_37 +1 known frame_shift_del c.581 p.F195fs 0.978 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 192 0 0 79 29 26.8519 AGAP1 0 genome.wustl.edu 37 2 236877177 236877177 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 236877177 236877177 C - DEL AGAP1 ENST00000304032 human ensembl 74_37 +1 known frame_shift_del c.1555 p.S521fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 126 0 0 37 4 9.7561 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578275 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 42578275 42578275 A - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 16 0 0 6 5 45.4545 BCL11A 0 genome.wustl.edu 37 2 60780422 60780424 + RNA DEL GGC GGC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 60780422 60780424 GGC - DEL BCL11A ENST00000409351 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000:1.000 - - - no_errors BCL11A HGNC ENSG00000119866 42 0 0 7 4 36.3636 EHBP1 0 genome.wustl.edu 37 2 63176135 63176136 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 63176135 63176136 - A INS EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_ins c.2259_2260 p.T755fs 0.083:0.401 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 117 0 0 42 11 20.7547 C1D 0 genome.wustl.edu 37 2 68270087 68270088 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 68270087 68270088 - T INS C1D ENST00000355848 human ensembl 74_37 -1 known frame_shift_ins c.360_359 p.N120fs 0.998:1.000 NULL pfam_Sas10/Utp3/C1D - no_errors C1D HGNC ENSG00000197223 45 0 0 21 6 22.2222 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 121 0 0 42 13 23.6364 HK2 0 genome.wustl.edu 37 2 75107417 75107417 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 75107417 75107417 G - DEL HK2 ENST00000290573 human ensembl 74_37 +1 known frame_shift_del c.1291 p.V431fs 0.996 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 598 0 0 212 49 18.7739 GGCX 0 genome.wustl.edu 37 2 85780733 85780733 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 85780733 85780733 T - DEL GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GGCX HGNC ENSG00000115486 24 0 0 9 8 47.0588 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 164 1 0.606061 69 26 27.3684 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 25 0 0 15 13 46.4286 TAF1B 0 genome.wustl.edu 37 2 9989571 9989572 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 9989571 9989572 AA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187_188 p.N66fs 0.991:0.950 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 16 0 0 7 4 36.3636 EIF5B 0 genome.wustl.edu 37 2 99976805 99976805 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 2 99976805 99976805 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.142 p.K50fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 28 0 0 18 8 30.7692 JAG1 0 genome.wustl.edu 37 20 10626634 10626634 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 10626634 10626634 C - DEL JAG1 ENST00000254958 human ensembl 74_37 -1 known frame_shift_del c.1984 p.A662fs 0.141 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 227 0 0 75 24 24.2424 ISM1 0 genome.wustl.edu 37 20 13260475 13260475 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 13260475 13260475 C - DEL ISM1 ENST00000262487 human ensembl 74_37 +1 known frame_shift_del c.573 p.R194fs 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 118 0 0 41 10 19.6078 ESF1 0 genome.wustl.edu 37 20 13763492 13763492 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 13763492 13763492 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 0.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 49 0 0 21 12 36.3636 NDUFAF5 0 genome.wustl.edu 37 20 13797842 13797842 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 13797842 13797842 A - DEL NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known frame_shift_del c.1024 p.K343fs 0.026 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase - no_errors NDUFAF5 HGNC ENSG00000101247 352 0 0 102 18 15 RRBP1 0 genome.wustl.edu 37 20 17601408 17601410 + In_Frame_Del DEL CTC CTC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 17601408 17601410 CTC - DEL RRBP1 ENST00000246043 human ensembl 74_37 -1 known in_frame_del c.3459_3457 p.E1153in_frame_del 1.000:1.000:1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 62 0 0 22 6 21.4286 C20orf26 0 genome.wustl.edu 37 20 20123534 20123534 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 20123534 20123534 A - DEL C20orf26 ENST00000245957 human ensembl 74_37 +1 known frame_shift_del c.893 p.I300fs 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 19 0 0 4 3 42.8571 SNRPB 0 genome.wustl.edu 37 20 2443740 2443740 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 2443740 2443740 G - DEL SNRPB ENST00000438552 human ensembl 74_37 -1 known frame_shift_del c.554 p.P185fs 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 268 0 0 110 35 24.1379 HM13 0 genome.wustl.edu 37 20 30142485 30142488 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 30142485 30142488 AAAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155:0.142 - - - no_errors HM13 HGNC ENSG00000101294 40 0 0 9 9 50 MYLK2 0 genome.wustl.edu 37 20 30407987 30407987 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 30407987 30407987 C - DEL MYLK2 ENST00000375985 human ensembl 74_37 +1 known frame_shift_del c.111 p.P39fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 150 1 0.662252 46 19 29.2308 BPIFB4 0 genome.wustl.edu 37 20 31671213 31671214 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 31671213 31671214 - C INS BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.V73fs 0.020:0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 198 1 0.502513 72 15 17.2414 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 199 0 0 65 22 25.2874 MIR644A 0 genome.wustl.edu 37 20 33054129 33054130 + RNA INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 33054129 33054130 - T INS MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.030 - - - no_errors MIR644A HGNC ENSG00000207997 31 0 0 18 10 35.7143 NCOA6 0 genome.wustl.edu 37 20 33346694 33346694 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 33346694 33346694 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.557 p.P186fs 0.996 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 131 0 0 68 19 21.8391 GDF5 0 genome.wustl.edu 37 20 34025552 34025552 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 34025552 34025552 G - DEL GDF5 ENST00000374369 human ensembl 74_37 -1 known frame_shift_del c.157 p.L53fs 0.072 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 33 0 0 13 6 31.5789 TTI1 0 genome.wustl.edu 37 20 36640587 36640587 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 36640587 36640587 T - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.1632 p.K544fs 0.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 189 0 0 100 40 28.5714 SIGLEC1 0 genome.wustl.edu 37 20 3684491 3684491 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 3684491 3684491 G - DEL SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known frame_shift_del c.954 p.I319fs 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 55 0 0 30 8 21.0526 TOP1 0 genome.wustl.edu 37 20 39750659 39750661 + In_Frame_Del DEL AAG AAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 39750659 39750661 AAG - DEL TOP1 ENST00000361337 human ensembl 74_37 +1 known in_frame_del c.2059_2061 p.K689in_frame_del 1.000:1.000:1.000 superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 172 0 0 62 18 22.5 SNX21 0 genome.wustl.edu 37 20 44469004 44469004 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 44469004 44469004 A - DEL SNX21 ENST00000465997 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 34 0 0 24 8 25 ACOT8 0 genome.wustl.edu 37 20 44472965 44472965 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 44472965 44472965 G - DEL ACOT8 ENST00000217455 human ensembl 74_37 -1 known frame_shift_del c.583 p.L195fs 0.000 tigrfam_Acyl_CoA_thio pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 106 0 0 30 15 33.3333 FERMT1 0 genome.wustl.edu 37 20 6091015 6091015 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 6091015 6091015 G - DEL FERMT1 ENST00000217289 human ensembl 74_37 -1 known frame_shift_del c.676 p.Q226fs 0.001 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 86 0 0 35 14 28.5714 DIDO1 0 genome.wustl.edu 37 20 61537402 61537402 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 61537402 61537402 T - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.1425 p.E476fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 192 0 0 75 20 21.0526 COL20A1 0 genome.wustl.edu 37 20 61959724 61959724 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 20 61959724 61959724 C - DEL COL20A1 ENST00000326996 human ensembl 74_37 +1 known frame_shift_del c.3751 p.M1253fs 1.000 NULL 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 COL20A1 HGNC ENSG00000101203 51 0 0 10 3 23.0769 LTN1 0 genome.wustl.edu 37 21 30341860 30341860 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 30341860 30341860 A - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.1377 p.F459fs 0.999 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 184 0 0 75 31 29.2453 PDE9A 0 genome.wustl.edu 37 21 44195538 44195541 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 44195538 44195541 AAAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 21 0 0 6 5 45.4545 TSPEAR 0 genome.wustl.edu 37 21 45987773 45987773 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 45987773 45987773 G - DEL TSPEAR ENST00000323084 human ensembl 74_37 -1 known frame_shift_del c.199 p.R67fs 0.978 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 107 1 0.925926 44 15 25.4237 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662903 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 21 47662900 47662903 AAAA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 53 0 0 33 11 25 IL17RA 0 genome.wustl.edu 37 22 17590404 17590404 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 17590404 17590404 G - DEL IL17RA ENST00000319363 human ensembl 74_37 +1 known frame_shift_del c.2295 p.G767fs 0.028 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 15 0 0 11 3 21.4286 ZDHHC8 0 genome.wustl.edu 37 22 20130522 20130522 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 20130522 20130522 C - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1369 p.T459fs 0.997 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 48 0 0 27 10 27.027 GNAZ 0 genome.wustl.edu 37 22 23438488 23438488 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 23438488 23438488 G - DEL GNAZ ENST00000248996 human ensembl 74_37 +1 known frame_shift_del c.606 p.Q205fs 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 259 1 0.384615 102 46 31.0811 SPECC1L 0 genome.wustl.edu 37 22 24717353 24717354 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 24717353 24717354 - A INS SPECC1L ENST00000314328 human ensembl 74_37 +1 known frame_shift_ins c.405_406 p.L137fs 1.000:1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 279 0 0 108 43 28.4768 MN1 0 genome.wustl.edu 37 22 28193690 28193690 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 28193690 28193690 T - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.2842 p.R948fs 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 33 0 0 11 4 26.6667 ZNRF3 0 genome.wustl.edu 37 22 29445999 29445999 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 29445999 29445999 G - DEL ZNRF3 ENST00000544604 human ensembl 74_37 +1 known frame_shift_del c.1830 p.G612fs 0.026 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 250 0 0 71 27 27.551 SSTR3 0 genome.wustl.edu 37 22 37602620 37602621 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 37602620 37602621 - C INS SSTR3 ENST00000328544 human ensembl 74_37 -1 known frame_shift_ins c.1223_1222 p.E408fs 0.618:0.521 prints_Somatstn_rcpt_3 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 134 0 0 41 7 14.5833 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 71 0 0 42 8 16 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 71 0 0 25 8 24.2424 PVRL3 0 genome.wustl.edu 37 3 110852822 110852822 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 110852822 110852822 A - DEL PVRL3 ENST00000485303 human ensembl 74_37 +1 known frame_shift_del c.1410 p.E473fs 0.999 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 62 0 0 49 20 28.9855 SLC9C1 0 genome.wustl.edu 37 3 112005609 112005610 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 112005609 112005610 - A INS SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.S11fs 0.000:0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 51 0 0 26 11 29.7297 CCDC80 0 genome.wustl.edu 37 3 112357269 112357269 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 112357269 112357269 T - DEL CCDC80 ENST00000206423 human ensembl 74_37 -1 known frame_shift_del c.1484 p.K495fs 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 181 0 0 67 29 30.2083 ZDHHC23 0 genome.wustl.edu 37 3 113679540 113679540 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 113679540 113679540 T - DEL ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors ZDHHC23 HGNC ENSG00000184307 117 0 0 34 12 26.087 SEMA5B 0 genome.wustl.edu 37 3 122631702 122631702 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 122631702 122631702 G - DEL SEMA5B ENST00000451055 human ensembl 74_37 -1 known frame_shift_del c.2875 p.Q959fs 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 189 0 0 68 19 21.8391 MYLK 0 genome.wustl.edu 37 3 123368043 123368044 + Splice_Site INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 123368043 123368044 - G INS MYLK ENST00000360304 human ensembl 74_37 -1 known splice_site_ins c.4289-3_4289-2 e22-2 0.975:0.100 - - - no_errors MYLK HGNC ENSG00000065534 132 0 0 51 11 17.7419 CCDC14 0 genome.wustl.edu 37 3 123665727 123665727 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 123665727 123665727 T - DEL CCDC14 ENST00000488653 human ensembl 74_37 -1 known frame_shift_del c.1268 p.N423fs 0.964 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 244 0 0 97 42 30.2158 KALRN 0 genome.wustl.edu 37 3 124438053 124438053 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 124438053 124438053 C - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.8697 p.H2901fs 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 84 0 0 38 22 36.6667 ZNF148 0 genome.wustl.edu 37 3 125032219 125032219 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 125032219 125032219 T - DEL ZNF148 ENST00000360647 human ensembl 74_37 -1 known frame_shift_del c.266 p.N89fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 132 0 0 86 30 25.8621 CNTN6 0 genome.wustl.edu 37 3 1371501 1371502 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 1371501 1371502 AA - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246_1247 p.K418fs 0.992:0.994 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 151 0 0 33 22 40 DBR1 0 genome.wustl.edu 37 3 137892418 137892418 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 137892418 137892418 C - DEL DBR1 ENST00000260803 human ensembl 74_37 -1 known frame_shift_del c.248 p.G83fs 1.000 pfam_PEstase_dom pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 220 0 0 93 35 27.3438 PIK3CB 0 genome.wustl.edu 37 3 138413710 138413710 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 138413710 138413710 G - DEL PIK3CB ENST00000289153 human ensembl 74_37 -1 known frame_shift_del c.1810 p.R604fs 0.240 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 147 1 0.675676 55 23 29.4872 ZBTB38 0 genome.wustl.edu 37 3 141162875 141162875 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 141162875 141162875 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.1648 p.T552fs 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 107 0 0 46 20 30.303 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184166 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 142184164 142184166 AAA - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001:0.000 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 22 0 0 12 4 25 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234964 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 146234963 146234964 AA - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163:0.236 - - - no_errors PLSCR1 HGNC ENSG00000188313 52 0 0 33 8 19.5122 CAPN7 0 genome.wustl.edu 37 3 15292713 15292713 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 15292713 15292713 T - DEL CAPN7 ENST00000253693 human ensembl 74_37 +1 known frame_shift_del c.2388 p.F798fs 0.122 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 158 0 0 63 30 32.2581 ANKRD28 0 genome.wustl.edu 37 3 15717504 15717504 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 15717504 15717504 A - DEL ANKRD28 ENST00000498713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ENSG00000206560 57 0 0 28 8 22.2222 IFT80 0 genome.wustl.edu 37 3 160102250 160102250 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 160102250 160102250 A - DEL IFT80 ENST00000465972 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IFT80 HGNC ENSG00000068885 15 0 0 6 9 60 SERPINI1 0 genome.wustl.edu 37 3 167543189 167543189 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 167543189 167543189 T - DEL SERPINI1 ENST00000488374 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SERPINI1 HGNC ENSG00000163536 31 0 0 24 13 35.1351 TBL1XR1 0 genome.wustl.edu 37 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 176769342 176769342 T - DEL TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known frame_shift_del c.377 p.N126fs 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 168 0 0 48 19 28.3582 ACTL6A 0 genome.wustl.edu 37 3 179288016 179288016 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 179288016 179288016 A - DEL ACTL6A ENST00000429709 human ensembl 74_37 +1 known frame_shift_del c.264 p.N90fs 0.169 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 149 0 0 72 21 22.5806 USP13 0 genome.wustl.edu 37 3 179408081 179408081 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 179408081 179408081 T - DEL USP13 ENST00000263966 human ensembl 74_37 +1 known frame_shift_del c.347 p.L118fs 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 100 0 0 29 7 19.4444 MCCC1-AS1 0 genome.wustl.edu 37 3 182735278 182735278 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 182735278 182735278 A - DEL MCCC1-AS1 ENST00000471731 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors MCCC1-AS1 HGNC ENSG00000243368 18 0 0 15 6 28.5714 TMEM41A 0 genome.wustl.edu 37 3 185212518 185212518 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 185212518 185212518 A - DEL TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 283 0 0 100 29 22.4806 BCL6 0 genome.wustl.edu 37 3 187446270 187446270 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 187446270 187446270 G - DEL BCL6 ENST00000232014 human ensembl 74_37 -1 known frame_shift_del c.1418 p.P473fs 0.891 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 57 0 0 11 8 42.1053 UTS2B 0 genome.wustl.edu 37 3 190999982 190999982 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 190999982 190999982 A - DEL UTS2B ENST00000463450 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors UTS2B HGNC ENSG00000188958 42 0 0 16 4 20 ATP13A3 0 genome.wustl.edu 37 3 194147849 194147850 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 194147849 194147850 - A INS ATP13A3 ENST00000256031 human ensembl 74_37 -1 known frame_shift_ins c.3080_3079 p.W1027fs 1.000:1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 98 0 0 37 9 19.5652 TNK2 0 genome.wustl.edu 37 3 195594633 195594633 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 195594633 195594633 G - DEL TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 pfam_Inhibitor_Mig-6 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 49 0 0 18 4 18.1818 NCBP2 0 genome.wustl.edu 37 3 196664216 196664216 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 196664216 196664216 A - DEL NCBP2 ENST00000467803 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors NCBP2 HGNC ENSG00000114503 15 0 0 9 4 30.7692 EOMES 0 genome.wustl.edu 37 3 27758575 27758575 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 27758575 27758575 A - DEL EOMES ENST00000449599 human ensembl 74_37 -1 known frame_shift_del c.2104 p.Y702fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 134 0 0 64 26 28.8889 PDCD6IP 0 genome.wustl.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 33866811 33866811 T - DEL PDCD6IP ENST00000457054 human ensembl 74_37 +1 known frame_shift_del c.595 p.L201fs 0.997 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 195 1 0.510204 85 21 19.8113 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 112 0 0 48 17 26.1538 GORASP1 0 genome.wustl.edu 37 3 39141846 39141847 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 39141846 39141847 - G INS GORASP1 ENST00000319283 human ensembl 74_37 -1 known frame_shift_ins c.715_714 p.E238fs 0.069:0.005 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 104 0 0 28 13 31.7073 ENTPD3 0 genome.wustl.edu 37 3 40468948 40468951 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 40468948 40468951 AAGA - DEL ENTPD3 ENST00000301825 human ensembl 74_37 +1 known frame_shift_del c.1539_1542 p.K515fs 0.002:0.002:0.000:0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 92 0 0 40 12 23.0769 ZNF620 0 genome.wustl.edu 37 3 40557432 40557433 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 40557432 40557433 - G INS ZNF620 ENST00000314529 human ensembl 74_37 +1 known frame_shift_ins c.347_348 p.L119fs 0.000:0.000 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 ZNF620 HGNC ENSG00000177842 96 0 0 30 13 30.2326 CCDC13-AS1 0 genome.wustl.edu 37 3 42787390 42787392 + RNA DEL AGG AGG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 42787390 42787392 AGG - DEL CCDC13-AS1 ENST00000418161 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors CCDC13-AS1 HGNC ENSG00000173811 80 0 0 40 18 31.0345 ABHD5 0 genome.wustl.edu 37 3 43732493 43732495 + In_Frame_Del DEL GGA GGA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 43732493 43732495 GGA - DEL ABHD5 ENST00000458276 human ensembl 74_37 +1 known in_frame_del c.9_11 p.E7in_frame_del 0.992:1.000:1.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD5 HGNC ENSG00000011198 65 0 0 15 2 11.7647 XCR1 0 genome.wustl.edu 37 3 46063400 46063400 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 46063400 46063400 A - DEL XCR1 ENST00000309285 human ensembl 74_37 -1 known frame_shift_del c.40 p.Y14fs 0.080 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 131 0 0 47 14 22.9508 PTH1R 0 genome.wustl.edu 37 3 46944891 46944891 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 46944891 46944891 C - DEL PTH1R ENST00000313049 human ensembl 74_37 +1 known frame_shift_del c.1527 p.R511fs 0.992 prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 80 0 0 35 9 20.4545 NBEAL2 0 genome.wustl.edu 37 3 47042822 47042823 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 47042822 47042823 - G INS NBEAL2 ENST00000450053 human ensembl 74_37 +1 known frame_shift_ins c.4538_4539 p.V1515fs 0.000:0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 124 0 0 44 19 30.1587 PTPN23 0 genome.wustl.edu 37 3 47451532 47451532 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 47451532 47451532 C - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_del c.2244 p.P750fs 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 35 0 0 5 7 58.3333 PTPN23 0 genome.wustl.edu 37 3 47454113 47454115 + In_Frame_Del DEL AGA AGA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 47454113 47454115 AGA - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known in_frame_del c.4427_4429 p.K1477in_frame_del 0.999:1.000:1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 92 0 0 37 14 27.451 ZNF589 0 genome.wustl.edu 37 3 48309594 48309594 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48309594 48309594 G - DEL ZNF589 ENST00000354698 human ensembl 74_37 +1 known frame_shift_del c.413 p.A140fs 0.110 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF589 HGNC ENSG00000164048 223 1 0.446429 66 26 28.2609 ARIH2 0 genome.wustl.edu 37 3 48965138 48965138 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 48965138 48965138 G - DEL ARIH2 ENST00000356401 human ensembl 74_37 +1 known frame_shift_del c.147 p.A51fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 65 0 0 44 21 32.3077 IFRD2 0 genome.wustl.edu 37 3 50327898 50327898 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 50327898 50327898 C - DEL IFRD2 ENST00000336089 human ensembl 74_37 -1 known frame_shift_del c.682 p.D228fs 0.996 pfam_Interferon-rel_develop_reg_N pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 19 0 0 5 3 37.5 DOCK3 0 genome.wustl.edu 37 3 51417604 51417605 + Frame_Shift_Del DEL CC CC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 51417604 51417605 CC - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549_5550 p.P1852fs 0.115:0.081 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 103 0 0 22 4 15.3846 STAB1 0 genome.wustl.edu 37 3 52546401 52546401 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 52546401 52546401 C - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.2928 p.P978fs 0.997 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 209 0 0 78 26 25 PTPRG 0 genome.wustl.edu 37 3 62248542 62248542 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 62248542 62248542 A - DEL PTPRG ENST00000474889 human ensembl 74_37 +1 known frame_shift_del c.2629 p.N878fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 54 0 0 24 6 20 MAGI1 0 genome.wustl.edu 37 3 65361570 65361571 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 65361570 65361571 - C INS MAGI1 ENST00000402939 human ensembl 74_37 -1 known frame_shift_ins c.3046_3045 p.S1015fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 91 0 0 50 16 24.2424 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 66 0 0 27 13 32.5 FILIP1L 0 genome.wustl.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 3 99568273 99568273 T - DEL FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_del c.2247 p.K749fs 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 190 0 0 109 38 25.8503 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 257 1 0.387597 117 38 24.5161 SYNPO2 0 genome.wustl.edu 37 4 119978598 119978598 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 119978598 119978598 C - DEL SYNPO2 ENST00000307142 human ensembl 74_37 +1 known frame_shift_del c.3295 p.I1101fs 0.273 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 134 0 0 59 16 21.3333 FGF2 0 genome.wustl.edu 37 4 123748461 123748461 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 123748461 123748461 C - DEL FGF2 ENST00000264498 human ensembl 74_37 +1 known frame_shift_del c.531 p.D179fs 0.998 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF2 HGNC ENSG00000138685 64 0 0 17 5 22.7273 FAT4 0 genome.wustl.edu 37 4 126398521 126398522 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 126398521 126398522 - A INS FAT4 ENST00000335110 human ensembl 74_37 +1 known frame_shift_ins c.7294_7295 p.C2435fs 0.004:0.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 96 0 0 41 14 25.4545 SLC7A11 0 genome.wustl.edu 37 4 139153476 139153476 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 139153476 139153476 A - DEL SLC7A11 ENST00000280612 human ensembl 74_37 -1 known frame_shift_del c.465 p.F155fs 1.000 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 107 0 0 25 9 26.4706 MGST2 0 genome.wustl.edu 37 4 140624683 140624683 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 140624683 140624683 A - DEL MGST2 ENST00000265498 human ensembl 74_37 +1 known frame_shift_del c.304 p.K103fs 0.060 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP - no_errors MGST2 HGNC ENSG00000085871 94 0 0 33 7 17.5 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 43 0 0 18 12 40 ZNF718 0 genome.wustl.edu 37 4 154927 154927 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 154927 154927 T - DEL ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF718 HGNC ENSG00000250312 16 0 0 9 5 35.7143 HAND2 0 genome.wustl.edu 37 4 174450159 174450159 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 174450159 174450159 C - DEL HAND2 ENST00000359562 human ensembl 74_37 -1 known frame_shift_del c.282 p.P95fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND2 HGNC ENSG00000164107 39 0 0 20 5 20 WWC2 0 genome.wustl.edu 37 4 184187099 184187099 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 184187099 184187099 A - DEL WWC2 ENST00000448232 human ensembl 74_37 +1 known frame_shift_del c.2202 p.V736fs 0.971 superfamily_C2_dom pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 42 0 0 12 5 29.4118 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 98 0 0 54 18 25 PPARGC1A 0 genome.wustl.edu 37 4 23830061 23830061 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 23830061 23830061 T - DEL PPARGC1A ENST00000264867 human ensembl 74_37 -1 known frame_shift_del c.719 p.K240fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 228 0 0 70 33 32.0388 ZCCHC4 0 genome.wustl.edu 37 4 25334885 25334886 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 25334885 25334886 - T INS ZCCHC4 ENST00000302874 human ensembl 74_37 +1 known frame_shift_ins c.410_411 p.W137fs 0.855:0.856 NULL pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZCCHC4 HGNC ENSG00000168228 79 0 0 50 21 29.5775 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 131 1 0.757576 35 6 14.6341 ARAP2 0 genome.wustl.edu 37 4 36230898 36230898 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 36230898 36230898 T - DEL ARAP2 ENST00000303965 human ensembl 74_37 -1 known frame_shift_del c.211 p.M71fs 0.997 superfamily_SAM/pointed pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 106 0 0 49 21 30 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 148 0 0 69 24 25.8065 GUF1 0 genome.wustl.edu 37 4 44700615 44700615 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 44700615 44700615 A - DEL GUF1 ENST00000281543 human ensembl 74_37 +1 known frame_shift_del c.1927 p.K645fs 0.999 pfam_LepA_GTP-bd_C,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 103 1 0.961538 40 20 33.3333 FRYL 0 genome.wustl.edu 37 4 48604083 48604083 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 48604083 48604083 A - DEL FRYL ENST00000358350 human ensembl 74_37 -1 known frame_shift_del c.989 p.L330fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 106 1 0.934579 29 11 27.5 OCIAD2 0 genome.wustl.edu 37 4 48894833 48894833 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 48894833 48894833 A - DEL OCIAD2 ENST00000508632 human ensembl 74_37 -1 known frame_shift_del c.339 p.F113fs 0.890 pfam_OCIA pfam_OCIA - no_errors OCIAD2 HGNC ENSG00000145247 407 0 0 131 44 25.1429 LRRC66 0 genome.wustl.edu 37 4 52861964 52861965 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 52861964 52861965 - T INS LRRC66 ENST00000343457 human ensembl 74_37 -1 known frame_shift_ins c.1224_1223 p.C409fs 0.067:0.056 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 69 0 0 21 15 41.6667 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 88 0 0 36 11 23.4043 USO1 0 genome.wustl.edu 37 4 76722290 76722291 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 76722290 76722291 - A INS USO1 ENST00000538159 human ensembl 74_37 +1 known frame_shift_ins c.1950_1951 p.T652fs 1.000:1.000 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 30 0 0 14 5 26.3158 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 34 0 0 6 19 76 ACOX3 0 genome.wustl.edu 37 4 8412062 8412063 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 8412062 8412063 - G INS ACOX3 ENST00000356406 human ensembl 74_37 -1 known frame_shift_ins c.564_563 p.D189fs 0.002:1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 87 0 0 43 11 20.3704 WDFY3 0 genome.wustl.edu 37 4 85617218 85617218 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 85617218 85617218 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.8806 p.Y2936fs 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 123 0 0 68 15 18.0723 WDFY3 0 genome.wustl.edu 37 4 85676453 85676453 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 85676453 85676453 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.5525 p.L1842fs 0.996 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 126 0 0 39 11 22 WDFY3-AS1 0 genome.wustl.edu 37 4 85731542 85731545 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 85731542 85731545 AAAA - DEL WDFY3-AS1 ENST00000510449 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.004:0.002:0.071 - - - no_errors WDFY3-AS1 HGNC ENSG00000251260 8 0 0 7 3 30 ATOH1 0 genome.wustl.edu 37 4 94750382 94750382 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 94750382 94750382 G - DEL ATOH1 ENST00000306011 human ensembl 74_37 +1 known frame_shift_del c.305 p.E104fs 0.113 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 50 0 0 20 8 28.5714 BMPR1B 0 genome.wustl.edu 37 4 96025646 96025646 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 4 96025646 96025646 C - DEL BMPR1B ENST00000440890 human ensembl 74_37 +1 known frame_shift_del c.161 p.R56fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 127 0 0 52 22 29.7297 CEP120 0 genome.wustl.edu 37 5 122720714 122720714 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 122720714 122720714 A - DEL CEP120 ENST00000306467 human ensembl 74_37 -1 known frame_shift_del c.1694 p.L565fs 1.000 superfamily_C2_dom pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 108 0 0 57 18 24 FNIP1 0 genome.wustl.edu 37 5 131046332 131046332 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 131046332 131046332 G - DEL FNIP1 ENST00000510461 human ensembl 74_37 -1 known frame_shift_del c.645 p.R216fs 0.999 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 49 0 0 23 3 11.5385 RAD50 0 genome.wustl.edu 37 5 131944382 131944382 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 131944382 131944382 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2794 p.N934fs 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 25 0 0 7 6 46.1538 ZCCHC10 0 genome.wustl.edu 37 5 132335879 132335879 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 132335879 132335879 G - DEL ZCCHC10 ENST00000513541 human ensembl 74_37 -1 putative frame_shift_del c.284 p.P95fs 0.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC10 HGNC ENSG00000155329 84 0 0 38 15 28.3019 H2AFY 0 genome.wustl.edu 37 5 134679016 134679016 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 134679016 134679016 T - DEL H2AFY ENST00000511689 human ensembl 74_37 -1 known frame_shift_del c.887 p.N296fs 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 227 0 0 82 31 27.4336 PCDHGC3 0 genome.wustl.edu 37 5 140857742 140857742 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 140857742 140857742 A - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2059 p.N689fs 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 415 0 0 177 63 26.25 ARAP3 0 genome.wustl.edu 37 5 141052870 141052870 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 141052870 141052870 G - DEL ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 17 0 0 15 14 48.2759 TCERG1 0 genome.wustl.edu 37 5 145883505 145883506 + Frame_Shift_Del DEL GA GA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 145883505 145883506 GA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2666_2667 p.E892fs 1.000:0.891 superfamily_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 147 0 0 36 12 25 LARP1 0 genome.wustl.edu 37 5 154181822 154181822 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 154181822 154181822 G - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.1741 p.D583fs 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 174 0 0 66 12 15.3846 GEMIN5 0 genome.wustl.edu 37 5 154304058 154304058 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 154304058 154304058 T - DEL GEMIN5 ENST00000285873 human ensembl 74_37 -1 known frame_shift_del c.1350 p.V451fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 431 0 0 140 62 30.6931 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 81 0 0 22 8 26.6667 HNRNPAB 0 genome.wustl.edu 37 5 177637177 177637194 + In_Frame_Del DEL CAGGGCTACGGCTACCAG CAGGGCTACGGCTACCAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CAGGGCTACGGCTACCAG CAGGGCTACGGCTACCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 177637177 177637194 CAGGGCTACGGCTACCAG - DEL HNRNPAB ENST00000358344 human ensembl 74_37 +1 known in_frame_del c.832_849 p.GYQQGY281in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 169 0 0 47 7 12.963 FLT4 0 genome.wustl.edu 37 5 180058748 180058748 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 180058748 180058748 G - DEL FLT4 ENST00000261937 human ensembl 74_37 -1 known frame_shift_del c.89 p.P30fs 0.998 pfscan_Ig-like_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 75 0 0 15 10 40 C5orf22 0 genome.wustl.edu 37 5 31541435 31541435 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 31541435 31541435 T - DEL C5orf22 ENST00000325366 human ensembl 74_37 +1 known frame_shift_del c.918 p.L307fs 0.996 superfamily_ICAT superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 78 0 0 29 13 30.9524 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 28 0 0 19 7 26.9231 SPEF2 0 genome.wustl.edu 37 5 35779342 35779343 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 35779342 35779343 - C INS SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_ins c.4341_4342 p.S1449fs 0.045:0.050 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 93 0 0 65 18 21.6867 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 110 1 0.900901 45 20 30.7692 C5orf42 0 genome.wustl.edu 37 5 37169238 37169238 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 37169238 37169238 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.6888 p.E2297fs 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 86 0 0 59 20 25.3165 HCN1 0 genome.wustl.edu 37 5 45695957 45695957 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 45695957 45695957 C - DEL HCN1 ENST00000303230 human ensembl 74_37 -1 known frame_shift_del c.239 p.G80fs 0.823 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 28 0 0 12 3 20 KIF2A 0 genome.wustl.edu 37 5 61648515 61648515 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 61648515 61648515 A - DEL KIF2A ENST00000407818 human ensembl 74_37 +1 known frame_shift_del c.435 p.K147fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 42 0 0 13 7 35 RGS7BP 0 genome.wustl.edu 37 5 63905019 63905019 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 63905019 63905019 C - DEL RGS7BP ENST00000334025 human ensembl 74_37 +1 known frame_shift_del c.714 p.L240fs 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 127 0 0 48 13 21.3115 RAD17 0 genome.wustl.edu 37 5 68665244 68665244 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 68665244 68665244 C - DEL RAD17 ENST00000514066 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAD17 HGNC ENSG00000152942 74 0 0 7 10 58.8235 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 31 0 0 20 5 20 MSH3 0 genome.wustl.edu 37 5 79970915 79970916 + Frame_Shift_Del DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 79970915 79970916 AA - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141_1142 p.K383fs 0.982:0.892 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 305 0 0 119 40 25.1572 HAPLN1 0 genome.wustl.edu 37 5 82940273 82940273 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 82940273 82940273 C - DEL HAPLN1 ENST00000274341 human ensembl 74_37 -1 known frame_shift_del c.684 p.Q229fs 0.996 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 139 0 0 62 12 16.2162 RHOBTB3 0 genome.wustl.edu 37 5 95067839 95067839 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 5 95067839 95067839 T - DEL RHOBTB3 ENST00000506817 human ensembl 74_37 +1 putative frame_shift_del c.279 p.S96fs 0.013 NULL NULL - no_errors RHOBTB3 HGNC ENSG00000164292 29 0 0 11 4 26.6667 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 13 0 0 4 8 66.6667 SOBP 0 genome.wustl.edu 37 6 107956439 107956439 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 107956439 107956439 G - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known frame_shift_del c.2391 p.G799fs 0.986 NULL NULL - no_errors SOBP HGNC ENSG00000112320 156 0 0 69 19 21.5909 ZBTB24 0 genome.wustl.edu 37 6 109802728 109802729 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 109802728 109802729 - T INS ZBTB24 ENST00000230122 human ensembl 74_37 -1 known frame_shift_ins c.502_501 p.V167fs 0.996:0.993 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 ZBTB24 HGNC ENSG00000112365 338 1 0.294985 153 35 18.617 SLC16A10 0 genome.wustl.edu 37 6 111498763 111498763 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 111498763 111498763 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.837 p.I282fs 0.651 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 111 0 0 58 10 14.7059 COL10A1 0 genome.wustl.edu 37 6 116441750 116441750 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 116441750 116441750 G - DEL COL10A1 ENST00000243222 human ensembl 74_37 -1 known frame_shift_del c.1529 p.P510fs 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 59 0 0 25 6 19.3548 RSPH4A 0 genome.wustl.edu 37 6 116951612 116951612 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 116951612 116951612 C - DEL RSPH4A ENST00000229554 human ensembl 74_37 +1 known frame_shift_del c.1813 p.W607fs 0.924 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 175 0 0 71 22 23.6559 ADTRP 0 genome.wustl.edu 37 6 11714640 11714643 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 11714640 11714643 AAAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 43 0 0 14 15 51.7241 FOXQ1 0 genome.wustl.edu 37 6 1313297 1313297 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 1313297 1313297 C - DEL FOXQ1 ENST00000296839 human ensembl 74_37 +1 known frame_shift_del c.358 p.Y122fs 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC ENSG00000164379 72 0 0 18 9 33.3333 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 89 0 0 59 14 19.1781 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 27 0 0 15 13 46.4286 MED23 0 genome.wustl.edu 37 6 131948470 131948473 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 131948470 131948473 AAAA - DEL MED23 ENST00000489888 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004:0.006:0.011 - - - no_errors MED23 HGNC ENSG00000112282 72 0 0 22 10 31.25 HECA 0 genome.wustl.edu 37 6 139488146 139488147 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 139488146 139488147 - G INS HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_ins c.997_998 p.H336fs 1.000:1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 156 0 0 56 19 25.3333 PLAGL1 0 genome.wustl.edu 37 6 144262630 144262630 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 144262630 144262630 G - DEL PLAGL1 ENST00000354765 human ensembl 74_37 -1 known frame_shift_del c.1323 p.I442fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC ENSG00000118495 82 0 0 27 9 25 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 143 0 0 45 12 21.0526 ENSG00000235381 0 genome.wustl.edu 37 6 155575539 155575539 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 155575539 155575539 C - DEL ENSG00000235381 ENST00000435295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 63 0 0 32 11 25.5814 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 96 0 0 34 10 22.7273 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 50 0 0 15 19 55.8824 PNLDC1 0 genome.wustl.edu 37 6 160230161 160230161 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 160230161 160230161 T - DEL PNLDC1 ENST00000610273 human ensembl 74_37 +1 known frame_shift_del c.721 p.F242fs 0.998 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 122 0 0 52 12 18.75 LPA 0 genome.wustl.edu 37 6 161021956 161021956 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 161021956 161021956 A - DEL LPA ENST00000316300 human ensembl 74_37 -1 known frame_shift_del c.3120 p.F1040fs 0.002 NULL pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 89 0 0 37 18 32.7273 MLLT4 0 genome.wustl.edu 37 6 168325729 168325729 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 168325729 168325729 A - DEL MLLT4 ENST00000366806 human ensembl 74_37 +1 known frame_shift_del c.3036 p.K1014fs 0.004 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 97 0 0 27 15 35.7143 NHLRC1 0 genome.wustl.edu 37 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 18122226 18122226 A - DEL NHLRC1 ENST00000340650 human ensembl 74_37 -1 known frame_shift_del c.612 p.F204fs 0.001 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 95 0 0 44 12 21.4286 C6orf195 0 genome.wustl.edu 37 6 2623916 2623916 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 2623916 2623916 C - DEL C6orf195 ENST00000296847 human ensembl 74_37 -1 known frame_shift_del c.141 p.L48fs 0.000 NULL NULL - no_errors C6orf195 HGNC ENSG00000164385 116 0 0 64 6 8.57143 OR2H2 0 genome.wustl.edu 37 6 29555792 29555793 + Frame_Shift_Del DEL CT CT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29555792 29555793 CT - DEL OR2H2 ENST00000383640 human ensembl 74_37 +1 known frame_shift_del c.71_72 p.F26fs 0.037:0.082 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 314 0 0 126 39 23.6364 HLA-F 0 genome.wustl.edu 37 6 29694803 29694803 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29694803 29694803 T - DEL HLA-F ENST00000259951 human ensembl 74_37 +1 known frame_shift_del c.1180 p.L396fs 1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 412 2 0.483092 159 59 27.0642 HLA-A 0 genome.wustl.edu 37 6 29911900 29911900 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 29911900 29911900 C - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.621 p.K210fs 0.000 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 558 0 0 222 57 20.4301 TCF19 0 genome.wustl.edu 37 6 31127312 31127312 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31127312 31127312 C - DEL TCF19 ENST00000376255 human ensembl 74_37 +1 known frame_shift_del c.66 p.A25fs 0.998 superfamily_SMAD_FHA_domain pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 21 0 0 11 4 26.6667 DDX39B 0 genome.wustl.edu 37 6 31504446 31504446 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31504446 31504446 A - DEL DDX39B ENST00000417556 human ensembl 74_37 -1 known frame_shift_del c.492 p.F164fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 110 0 0 40 13 24.5283 PRRC2A 0 genome.wustl.edu 37 6 31597337 31597338 + In_Frame_Ins INS - - AGC TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31597337 31597338 - AGC INS PRRC2A ENST00000376007 human ensembl 74_37 +1 known in_frame_ins c.1969_1970 p.661in_frame_insQ 1.000:1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 463 0 0 250 57 18.5668 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832360 + RNA DEL AAAA AAAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31832357 31832360 AAAA - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055:0.066:0.070:0.080 - - - no_errors SLC44A4 HGNC ENSG00000204385 74 0 0 23 25 52.0833 EHMT2 0 genome.wustl.edu 37 6 31852462 31852462 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31852462 31852462 G - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.2734 p.L912fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 62 0 0 20 8 28.5714 EHMT2 0 genome.wustl.edu 37 6 31864887 31864887 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 31864887 31864887 C - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.93 p.H33fs 0.001 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 16 0 0 16 4 20 TNXB 0 genome.wustl.edu 37 6 32015785 32015786 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 32015785 32015786 - A INS TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_ins c.10044_10043 p.D3349fs 0.042:0.051 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 157 0 0 49 11 18.3333 RXRB 0 genome.wustl.edu 37 6 33164164 33164164 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 33164164 33164164 C - DEL RXRB ENST00000413614 human ensembl 74_37 -1 known frame_shift_del c.752 p.G251fs 0.001 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors RXRB HGNC ENSG00000204231 246 0 0 78 29 27.1028 CDKN1A 0 genome.wustl.edu 37 6 36652118 36652118 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 36652118 36652118 G - DEL CDKN1A ENST00000448526 human ensembl 74_37 +1 known frame_shift_del c.342 p.R117fs 0.000 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 56 0 0 18 8 30.7692 TBC1D22B 0 genome.wustl.edu 37 6 37250062 37250063 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 37250062 37250063 - C INS TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_ins c.523_524 p.M178fs 1.000:0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 131 0 0 39 15 27.7778 PRPF4B 0 genome.wustl.edu 37 6 4031881 4031881 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 4031881 4031881 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.130 p.K46fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 59 0 0 38 26 40.625 CUL9 0 genome.wustl.edu 37 6 43184211 43184212 + Frame_Shift_Del DEL CT CT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 43184211 43184212 CT - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_del c.6252_6253 p.C2087fs 0.001:0.003 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 246 0 0 128 46 26.4368 HCRTR2 0 genome.wustl.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 55039410 55039411 - C INS HCRTR2 ENST00000370862 human ensembl 74_37 +1 known frame_shift_ins c.25_26 p.C12fs 0.997:1.000 NULL pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 264 0 0 87 23 20.9091 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 270 2 0.735294 131 39 22.9412 EEF1E1 0 genome.wustl.edu 37 6 8090388 8090388 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 8090388 8090388 A - DEL EEF1E1 ENST00000507463 human ensembl 74_37 -1 putative frame_shift_del c.415 p.S139fs 0.001 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors EEF1E1 HGNC ENSG00000124802 54 0 0 33 10 23.2558 KIAA1009 0 genome.wustl.edu 37 6 84870551 84870551 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 84870551 84870551 T - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.2761 p.I921fs 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 125 1 0.793651 42 12 22.2222 TBX18 0 genome.wustl.edu 37 6 85466490 85466490 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 85466490 85466490 C - DEL TBX18 ENST00000369663 human ensembl 74_37 -1 known frame_shift_del c.697 p.E233fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 88 0 0 43 19 30.6452 TBX18 0 genome.wustl.edu 37 6 85472405 85472405 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 85472405 85472405 G - DEL TBX18 ENST00000369663 human ensembl 74_37 -1 known frame_shift_del c.354 p.K119fs 0.937 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 59 0 0 25 10 28.5714 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 58 0 0 22 24 52.1739 RINT1 0 genome.wustl.edu 37 7 105182902 105182902 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 105182902 105182902 A - DEL RINT1 ENST00000257700 human ensembl 74_37 +1 known frame_shift_del c.321 p.N109fs 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 126 0 0 51 17 25 GPR22 0 genome.wustl.edu 37 7 107115558 107115558 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 107115558 107115558 T - DEL GPR22 ENST00000304402 human ensembl 74_37 +1 known frame_shift_del c.1053 p.L353fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 100 0 0 59 18 23.3766 SLC26A4 0 genome.wustl.edu 37 7 107323940 107323940 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 107323940 107323940 A - DEL SLC26A4 ENST00000265715 human ensembl 74_37 +1 known frame_shift_del c.959 p.N322fs 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 82 0 0 39 15 27.7778 LAMB1 0 genome.wustl.edu 37 7 107594140 107594141 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 107594140 107594141 - C INS LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_ins c.2914_2913 p.S971fs 0.000:0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 167 0 0 66 10 13.1579 DOCK4 0 genome.wustl.edu 37 7 111580273 111580273 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 111580273 111580273 T - DEL DOCK4 ENST00000428084 human ensembl 74_37 -1 known frame_shift_del c.869 p.K290fs 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 242 0 0 112 38 25.3333 IFRD1 0 genome.wustl.edu 37 7 112112338 112112339 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 112112338 112112339 - A INS IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_ins c.1106_1107 p.H372fs 1.000:1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 163 0 0 63 34 35.0515 CADPS2 0 genome.wustl.edu 37 7 122194676 122194676 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 122194676 122194676 T - DEL CADPS2 ENST00000449022 human ensembl 74_37 -1 known frame_shift_del c.1403 p.N468fs 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 53 0 0 21 8 27.5862 RBM28 0 genome.wustl.edu 37 7 127979377 127979378 + Splice_Site INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 127979377 127979378 - A INS RBM28 ENST00000223073 human ensembl 74_37 -1 known splice_site_ins c.278-3_278-2 e3-2 0.999:0.000 - - - no_errors RBM28 HGNC ENSG00000106344 211 0 0 84 41 32.8 C7orf49 0 genome.wustl.edu 37 7 134851448 134851448 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 134851448 134851448 C - DEL C7orf49 ENST00000393114 human ensembl 74_37 -1 known frame_shift_del c.389 p.G130fs 0.000 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 169 0 0 71 25 26.0417 BRAF 0 genome.wustl.edu 37 7 140482927 140482927 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 140482927 140482927 G - DEL BRAF ENST00000288602 human ensembl 74_37 -1 known frame_shift_del c.1208 p.P403fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 79 0 0 28 8 22.2222 MGAM 0 genome.wustl.edu 37 7 141800654 141800654 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 141800654 141800654 G - DEL MGAM ENST00000549489 human ensembl 74_37 +1 known frame_shift_del c.5239 p.G1748fs 0.004 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 32 0 0 16 6 27.2727 SSPO 0 genome.wustl.edu 37 7 149512268 149512268 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 149512268 149512268 G - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SSPO HGNC ENSG00000197558 81 0 0 27 6 18.1818 NOS3 0 genome.wustl.edu 37 7 150707211 150707211 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 150707211 150707211 C - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_del c.2521 p.G843fs 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 92 0 0 35 17 32.6923 INTS1 0 genome.wustl.edu 37 7 1527075 1527075 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 1527075 1527075 G - DEL INTS1 ENST00000389470 human ensembl 74_37 -1 known frame_shift_del c.2956 p.R986fs 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 51 0 0 16 3 15.7895 DNAH11 0 genome.wustl.edu 37 7 21631141 21631141 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 21631141 21631141 A - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 145 0 0 36 20 35.7143 DNAH11 0 genome.wustl.edu 37 7 21939668 21939669 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 21939668 21939669 - A INS DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_ins c.13254_13255 p.T4420fs 1.000:1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 69 0 0 22 11 33.3333 HOXA11 0 genome.wustl.edu 37 7 27224538 27224538 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 27224538 27224538 G - DEL HOXA11 ENST00000006015 human ensembl 74_37 -1 known frame_shift_del c.226 p.R76fs 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA11 HGNC ENSG00000005073 165 0 0 53 22 29.3333 CREB5 0 genome.wustl.edu 37 7 28848864 28848864 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 28848864 28848864 G - DEL CREB5 ENST00000357727 human ensembl 74_37 +1 known frame_shift_del c.1087 p.R365fs 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 182 0 0 39 15 27.7778 GLI3 0 genome.wustl.edu 37 7 42003846 42003846 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 42003846 42003846 A - DEL GLI3 ENST00000479210 human ensembl 74_37 -1 known rna NULL NULL 0.968 - - - no_errors GLI3 HGNC ENSG00000106571 15 0 0 13 7 35 C7orf57 0 genome.wustl.edu 37 7 48086205 48086205 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 48086205 48086205 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.499 p.K169fs 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 32 0 0 12 6 33.3333 RADIL 0 genome.wustl.edu 37 7 4841484 4841484 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 4841484 4841484 G - DEL RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_del c.2642 p.P881fs 0.001 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 15 0 0 10 3 23.0769 ENSG00000232415 0 genome.wustl.edu 37 7 73474015 73474015 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 73474015 73474015 A - DEL ENSG00000232415 ENST00000435932 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTB-51J22.1 Clone_based_vega_gene ENSG00000232415 14 0 0 10 6 37.5 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512838 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 75512837 75512838 AA - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010:0.011 - - - no_errors RHBDD2 HGNC ENSG00000005486 10 0 0 7 6 46.1538 POR 0 genome.wustl.edu 37 7 75614451 75614451 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 75614451 75614451 C - DEL POR ENST00000461988 human ensembl 74_37 +1 known frame_shift_del c.1324 p.I444fs 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl 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 POR HGNC ENSG00000127948 76 0 0 28 12 30 PHTF2 0 genome.wustl.edu 37 7 77569580 77569581 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 77569580 77569581 - T INS PHTF2 ENST00000248550 human ensembl 74_37 +1 known frame_shift_ins c.1701_1702 p.L569fs 1.000:1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 206 0 0 55 23 29.4872 PCLO 0 genome.wustl.edu 37 7 82546109 82546111 + In_Frame_Del DEL CTC CTC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 82546109 82546111 CTC - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known in_frame_del c.11193_11191 p.E3731in_frame_del 0.974:1.000:1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 197 0 0 63 19 23.1707 FZD1 0 genome.wustl.edu 37 7 90894984 90894984 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 90894984 90894984 G - DEL FZD1 ENST00000287934 human ensembl 74_37 +1 known frame_shift_del c.789 p.G265fs 0.417 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 20 0 0 14 5 26.3158 AKAP9 0 genome.wustl.edu 37 7 91651608 91651608 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 91651608 91651608 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.3930 p.E1312fs 0.005 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 134 0 0 58 12 17.1429 CYP51A1 0 genome.wustl.edu 37 7 91743136 91743137 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 91743136 91743137 - C INS CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_ins c.1373_1372 p.E458fs 1.000:1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 134 0 0 52 19 26.7606 ASNS 0 genome.wustl.edu 37 7 97488171 97488171 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 97488171 97488171 A - DEL ASNS ENST00000175506 human ensembl 74_37 -1 known frame_shift_del c.770 p.L257fs 1.000 pfam_Asn_synthase,tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 130 0 0 62 10 13.8889 ZKSCAN5 0 genome.wustl.edu 37 7 99103706 99103706 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 99103706 99103706 C - DEL ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.980 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 216 0 0 65 27 29.3478 AZGP1 0 genome.wustl.edu 37 7 99564501 99564501 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 99564501 99564501 C - DEL AZGP1 ENST00000483612 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AZGP1 HGNC ENSG00000160862 45 0 0 24 11 31.4286 GPC2 0 genome.wustl.edu 37 7 99771554 99771554 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 7 99771554 99771554 C - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.796 p.V266fs 0.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 336 1 0.296736 132 38 22.3529 VPS13B 0 genome.wustl.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 100654474 100654474 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5731 p.I1913fs 0.452 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 242 1 0.411523 153 45 22.7273 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 71 0 0 56 18 24.3243 RIMS2 0 genome.wustl.edu 37 8 105235897 105235897 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 105235897 105235897 G - DEL RIMS2 ENST00000339750 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 0.013 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 37 0 0 28 3 9.67742 TMEM74 0 genome.wustl.edu 37 8 109796600 109796600 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 109796600 109796600 C - DEL TMEM74 ENST00000297459 human ensembl 74_37 -1 known frame_shift_del c.728 p.G243fs 1.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 120 0 0 63 14 18.1818 TATDN1 0 genome.wustl.edu 37 8 125535186 125535186 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 125535186 125535186 T - DEL TATDN1 ENST00000276692 human ensembl 74_37 -1 known frame_shift_del c.80 p.K27fs 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 127 0 0 65 19 22.619 MTSS1 0 genome.wustl.edu 37 8 125597329 125597329 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 125597329 125597329 T - DEL MTSS1 ENST00000518547 human ensembl 74_37 -1 known frame_shift_del c.459 p.R155fs 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 250 1 0.398406 116 37 24.183 DLC1 0 genome.wustl.edu 37 8 12957997 12957997 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 12957997 12957997 G - DEL DLC1 ENST00000276297 human ensembl 74_37 -1 known frame_shift_del c.1849 p.R617fs 0.834 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 172 0 0 89 23 20.5357 ASAP1 0 genome.wustl.edu 37 8 131226887 131226887 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 131226887 131226887 A - DEL ASAP1 ENST00000357668 human ensembl 74_37 -1 known frame_shift_del c.320 p.L107fs 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 106 0 0 63 16 20.2532 WISP1 0 genome.wustl.edu 37 8 134232956 134232957 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 134232956 134232957 - C INS WISP1 ENST00000250160 human ensembl 74_37 +1 known frame_shift_ins c.482_483 p.R164fs 0.992:0.918 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 128 0 0 60 15 20 BAI1 0 genome.wustl.edu 37 8 143562668 143562668 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 143562668 143562668 C - DEL BAI1 ENST00000323289 human ensembl 74_37 +1 known frame_shift_del c.1882 p.T630fs 1.000 smart_GPCR_2_extracellular_dom,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 178 0 0 76 16 17.3913 OPLAH 0 genome.wustl.edu 37 8 145109542 145109542 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 145109542 145109542 G - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.2608 p.H870fs 1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 80 0 0 22 7 24.1379 EPHX2 0 genome.wustl.edu 37 8 27364392 27364393 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 27364392 27364393 - T INS EPHX2 ENST00000521400 human ensembl 74_37 +1 known frame_shift_ins c.541_542 p.L183fs 0.712:0.706 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors EPHX2 HGNC ENSG00000120915 118 1 0.840336 60 15 20 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 27888776 27888776 T - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1892 p.N631fs 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 356 1 0.280112 152 38 20 NRG1 0 genome.wustl.edu 37 8 32607050 32607050 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 32607050 32607050 T - DEL NRG1 ENST00000523681 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NRG1 HGNC ENSG00000157168 81 0 0 53 15 22.0588 KCNU1 0 genome.wustl.edu 37 8 36768517 36768518 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 36768517 36768518 - C INS KCNU1 ENST00000399881 human ensembl 74_37 +1 known frame_shift_ins c.2401_2402 p.P804fs 0.083:0.116 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 151 0 0 90 11 10.8911 AP3M2 0 genome.wustl.edu 37 8 42026641 42026641 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 42026641 42026641 A - DEL AP3M2 ENST00000520685 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors AP3M2 HGNC ENSG00000070718 25 0 0 20 9 31.0345 FNTA 0 genome.wustl.edu 37 8 42924786 42924786 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 42924786 42924786 A - DEL FNTA ENST00000302279 human ensembl 74_37 +1 known frame_shift_del c.490 p.N165fs 1.000 pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 42 0 0 34 8 19.0476 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815414 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 56815414 56815414 T - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582 - - - no_errors SNORA1 RFAM ENSG00000199405 14 0 0 13 6 31.5789 SDCBP 0 genome.wustl.edu 37 8 59492251 59492251 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 59492251 59492251 A - DEL SDCBP ENST00000260130 human ensembl 74_37 +1 known frame_shift_del c.648 p.I218fs 0.992 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 141 0 0 116 25 17.7305 RAB2A 0 genome.wustl.edu 37 8 61533311 61533311 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 61533311 61533311 G - DEL RAB2A ENST00000262646 human ensembl 74_37 +1 known frame_shift_del c.622 p.G209fs 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB2A HGNC ENSG00000104388 149 0 0 57 11 16.1765 ERICH1 0 genome.wustl.edu 37 8 623865 623865 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 623865 623865 T - DEL ERICH1 ENST00000262109 human ensembl 74_37 -1 known frame_shift_del c.487 p.R163fs 0.988 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 103 0 0 88 21 19.2661 CYP7B1 0 genome.wustl.edu 37 8 65528783 65528784 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 65528783 65528784 - T INS CYP7B1 ENST00000310193 human ensembl 74_37 -1 known frame_shift_ins c.315_314 p.N105fs 0.066:0.942 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 43 0 0 17 5 22.7273 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 68076631 68076631 A - DEL CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_del c.2701 p.N903fs 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 119 1 0.833333 65 16 19.7531 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 68992721 68992721 T - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.1686 p.S565fs 0.015 smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 64 0 0 48 11 18.6441 SULF1 0 genome.wustl.edu 37 8 70488249 70488249 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 70488249 70488249 G - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.217 p.A75fs 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 47 0 0 46 8 14.8148 TRPA1 0 genome.wustl.edu 37 8 72958792 72958792 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 72958792 72958792 T - DEL TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_del c.2017 p.T673fs 0.001 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 211 1 0.471698 62 35 36.0825 ZFHX4 0 genome.wustl.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 77617546 77617547 - G INS ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_ins c.1223_1224 p.L411fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 61 0 0 49 8 14.0351 RMDN1 0 genome.wustl.edu 37 8 87487103 87487105 + In_Frame_Del DEL AGC AGC - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 87487103 87487105 AGC - DEL RMDN1 ENST00000406452 human ensembl 74_37 -1 known in_frame_del c.840_838 p.A280in_frame_del 0.756:0.985:1.000 NULL NULL - no_errors RMDN1 HGNC ENSG00000176623 103 0 0 81 18 18.1818 CNGB3 0 genome.wustl.edu 37 8 87645015 87645015 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 87645015 87645015 A - DEL CNGB3 ENST00000320005 human ensembl 74_37 -1 known frame_shift_del c.1285 p.S429fs 0.003 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 61 0 0 27 10 27.027 ENSG00000253722 0 genome.wustl.edu 37 8 94745548 94745548 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 94745548 94745548 A - DEL ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 20 0 0 11 5 31.25 KIAA1429 0 genome.wustl.edu 37 8 95531563 95531563 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 95531563 95531563 A - DEL KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_del c.2163 p.F721fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 101 0 0 90 23 20.354 TNKS 0 genome.wustl.edu 37 8 9623842 9623842 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 9623842 9623842 A - DEL TNKS ENST00000310430 human ensembl 74_37 +1 known frame_shift_del c.3647 p.N1217fs 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 162 0 0 83 19 18.6275 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 14 0 0 27 11 28.9474 SNORA72 0 genome.wustl.edu 37 8 99054837 99054839 + RNA DEL AAA AAA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 8 99054837 99054839 AAA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047:0.041 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 71 0 0 52 16 23.5294 SMC2 0 genome.wustl.edu 37 9 106862422 106862422 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 106862422 106862422 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.529 p.I179fs 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 55 0 0 18 10 35.7143 NIPSNAP3A 0 genome.wustl.edu 37 9 107513348 107513348 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 107513348 107513348 A - DEL NIPSNAP3A ENST00000374767 human ensembl 74_37 +1 known frame_shift_del c.172 p.N59fs 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3A HGNC ENSG00000136783 276 0 0 86 32 27.1186 PTGR1 0 genome.wustl.edu 37 9 114359602 114359602 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 114359602 114359602 T - DEL PTGR1 ENST00000309195 human ensembl 74_37 -1 known frame_shift_del c.101 p.N34fs 0.995 superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 39 0 0 14 7 33.3333 POLE3 0 genome.wustl.edu 37 9 116171195 116171195 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 116171195 116171195 T - DEL POLE3 ENST00000374169 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.429 superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 29 0 0 24 18 42.8571 PHF19 0 genome.wustl.edu 37 9 123620208 123620208 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 123620208 123620208 C - DEL PHF19 ENST00000487555 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PHF19 HGNC ENSG00000119403 21 0 0 18 8 30.7692 RABGAP1 0 genome.wustl.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 125861042 125861042 A - DEL RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_del c.2782 p.N930fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 128 0 0 38 14 26.9231 DENND1A 0 genome.wustl.edu 37 9 126319868 126319868 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 126319868 126319868 T - DEL DENND1A ENST00000394219 human ensembl 74_37 -1 known frame_shift_del c.878 p.N293fs 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 74 0 0 11 7 38.8889 ARPC5L 0 genome.wustl.edu 37 9 127639218 127639218 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 127639218 127639218 A - DEL ARPC5L ENST00000259477 human ensembl 74_37 +1 known frame_shift_del c.461 p.*154fs 1.000 NULL pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 39 0 0 19 7 26.9231 CDK9 0 genome.wustl.edu 37 9 130550838 130550839 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 130550838 130550839 - C INS CDK9 ENST00000373265 human ensembl 74_37 +1 known frame_shift_ins c.971_972 p.I327fs 1.000:0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK9 HGNC ENSG00000136807 10 0 0 5 3 37.5 PTGES 0 genome.wustl.edu 37 9 132510954 132510954 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 132510954 132510954 G - DEL PTGES ENST00000340607 human ensembl 74_37 -1 known frame_shift_del c.189 p.D64fs 0.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors PTGES HGNC ENSG00000148344 52 0 0 15 3 16.6667 PRDM12 0 genome.wustl.edu 37 9 133543700 133543701 + Frame_Shift_Ins INS - - GT TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 133543700 133543701 - GT INS PRDM12 ENST00000253008 human ensembl 74_37 +1 known frame_shift_ins c.570_571 p.M190fs 1.000:0.938 smart_SET_dom,pirsf_Znf_PRDM12,pfscan_SET_dom pfam_Znf_C2H2,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM12 HGNC ENSG00000130711 118 1 0.840336 54 10 15.625 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 36 0 0 15 10 40 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 22 0 0 2 13 86.6667 TTF1 0 genome.wustl.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135277388 135277388 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.821 p.K274fs 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 155 1 0.641026 69 25 26.5957 CEL 0 genome.wustl.edu 37 9 135946658 135946658 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135946658 135946658 C - DEL CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_del c.1778 p.V596fs 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 16 0 0 8 4 33.3333 CEL 0 genome.wustl.edu 37 9 135946987 135946988 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 135946987 135946988 - C INS CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_ins c.2107_2108 p.V706fs 0.038:0.002 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 26 0 0 0 9 100 BRD3 0 genome.wustl.edu 37 9 136905314 136905316 + In_Frame_Del DEL CTT CTT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 136905314 136905316 CTT - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known in_frame_del c.1485_1483 p.K495in_frame_del 1.000:1.000:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 14 0 0 1 5 83.3333 BRD3 0 genome.wustl.edu 37 9 136918529 136918529 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 136918529 136918529 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 63 0 0 12 16 57.1429 PTGDS 0 genome.wustl.edu 37 9 139875319 139875322 + RNA DEL CATT CATT - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CATT CATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 139875319 139875322 CATT - DEL PTGDS ENST00000462514 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors PTGDS HGNC ENSG00000107317 28 0 0 12 4 25 C9orf142 0 genome.wustl.edu 37 9 139887322 139887322 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 139887322 139887322 C - DEL C9orf142 ENST00000468484 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors C9orf142 HGNC ENSG00000148362 85 0 0 30 17 36.1702 NPDC1 0 genome.wustl.edu 37 9 139934526 139934526 + RNA DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 139934526 139934526 G - DEL NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 42 0 0 16 4 20 DPP7 0 genome.wustl.edu 37 9 140008718 140008718 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 140008718 140008718 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.298 p.A100fs 0.986 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 47 0 0 6 5 45.4545 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 94 0 0 36 8 18.1818 MIR602 0 genome.wustl.edu 37 9 140732961 140732961 + RNA DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 140732961 140732961 C - DEL MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors MIR602 HGNC ENSG00000207693 135 0 0 52 22 29.7297 PSIP1 0 genome.wustl.edu 37 9 15468955 15468955 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 15468955 15468955 T - DEL PSIP1 ENST00000380733 human ensembl 74_37 -1 known frame_shift_del c.1206 p.I403fs 1.000 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 38 0 0 24 11 31.4286 ADAMTSL1 0 genome.wustl.edu 37 9 18680349 18680350 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 18680349 18680350 - G INS ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_ins c.1176_1177 p.I395fs 1.000:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 70 0 0 42 8 16 ADAMTSL1 0 genome.wustl.edu 37 9 18829843 18829843 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 18829843 18829843 C - DEL ADAMTSL1 ENST00000388710 human ensembl 74_37 +1 known frame_shift_del c.220 p.Q76fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 115 1 0.862069 28 9 24.3243 SMARCA2 0 genome.wustl.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 2039777 2039779 CAG - DEL SMARCA2 ENST00000349721 human ensembl 74_37 +1 known in_frame_del c.667_669 p.Q226in_frame_del 0.310:0.494:0.625 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 28 0 0 9 7 43.75 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 19 0 0 25 11 30.5556 KIF24 0 genome.wustl.edu 37 9 34256536 34256537 + Frame_Shift_Del DEL CA CA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 34256536 34256537 CA - DEL KIF24 ENST00000379166 human ensembl 74_37 -1 known frame_shift_del c.3069_3068 p.V1023fs 0.000:0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 174 0 0 76 29 27.619 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 772 0 0 240 76 24.0506 ERMP1 0 genome.wustl.edu 37 9 5801291 5801292 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 5801291 5801292 - T INS ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_ins c.1952_1951 p.T651fs 0.987:0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 109 0 0 48 11 18.6441 C9orf41 0 genome.wustl.edu 37 9 77614678 77614678 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 77614678 77614678 A - DEL C9orf41 ENST00000376834 human ensembl 74_37 -1 known frame_shift_del c.699 p.F233fs 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 81 0 0 42 17 28.8136 ENSG00000229454 0 genome.wustl.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 88370966 88370966 T - DEL ENSG00000229454 ENST00000447148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-202I11.2 Clone_based_vega_gene ENSG00000229454 15 0 0 12 8 40 IARS 0 genome.wustl.edu 37 9 95003101 95003101 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 95003101 95003101 A - DEL IARS ENST00000473915 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors IARS HGNC ENSG00000196305 22 0 0 17 5 22.7273 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 23 0 0 12 4 25 PTCH1 0 genome.wustl.edu 37 9 98209617 98209617 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 98209617 98209617 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3921 p.R1308fs 0.441 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 180 1 0.552486 45 23 33.8235 SLC35D2 0 genome.wustl.edu 37 9 99083473 99083474 + RNA INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 9 99083473 99083474 - C INS SLC35D2 ENST00000490599 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SLC35D2 HGNC ENSG00000130958 50 0 0 28 15 34.8837 ARMCX1 0 genome.wustl.edu 37 X 100809163 100809163 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 100809163 100809163 T - DEL ARMCX1 ENST00000372829 human ensembl 74_37 +1 known frame_shift_del c.1250 p.F419fs 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 147 0 0 61 17 21.7949 TMSB15A 0 genome.wustl.edu 37 X 101770012 101770012 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 101770012 101770012 T - DEL TMSB15A ENST00000289373 human ensembl 74_37 -1 known frame_shift_del c.80 p.N27fs 0.981 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa - no_errors TMSB15A HGNC ENSG00000158164 279 1 0.357143 105 25 19.2308 GPRASP2 0 genome.wustl.edu 37 X 101971768 101971768 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 101971768 101971768 T - DEL GPRASP2 ENST00000332262 human ensembl 74_37 +1 known frame_shift_del c.1971 p.L659fs 0.004 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 119 0 0 65 30 31.5789 AMMECR1 0 genome.wustl.edu 37 X 109561058 109561060 + In_Frame_Del DEL CCG CCG - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 109561058 109561060 CCG - DEL AMMECR1 ENST00000262844 human ensembl 74_37 -1 known in_frame_del c.242_240 p.G82in_frame_del 1.000:1.000:0.999 NULL pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 9 0 0 5 2 28.5714 DCX 0 genome.wustl.edu 37 X 110654094 110654094 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 110654094 110654094 A - DEL DCX ENST00000338081 human ensembl 74_37 -1 known frame_shift_del c.109 p.C37fs 0.998 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 394 0 0 183 19 9.40594 FRMD7 0 genome.wustl.edu 37 X 131214036 131214037 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 131214036 131214037 - T INS FRMD7 ENST00000298542 human ensembl 74_37 -1 known frame_shift_ins c.1048_1047 p.Q349fs 1.000:1.000 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 306 0 0 103 32 23.7037 GPR112 0 genome.wustl.edu 37 X 135426886 135426886 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 135426886 135426886 A - DEL GPR112 ENST00000370652 human ensembl 74_37 +1 known frame_shift_del c.1021 p.T343fs 0.009 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 130 0 0 73 26 26.2626 SPANXN3 0 genome.wustl.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 142605149 142605149 T - DEL SPANXN3 ENST00000370503 human ensembl 74_37 -1 known frame_shift_del c.71 p.N24fs 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 288 0 0 103 44 29.932 PRRG3 0 genome.wustl.edu 37 X 150869296 150869297 + Frame_Shift_Ins INS - - G TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 150869296 150869297 - G INS PRRG3 ENST00000370353 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.R166fs 0.000:0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 84 0 0 38 9 19.1489 F8 0 genome.wustl.edu 37 X 154158428 154158428 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 154158428 154158428 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.3637 p.I1213fs 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 66 0 0 27 16 37.2093 SAT1 0 genome.wustl.edu 37 X 23802147 23802147 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 23802147 23802147 A - DEL SAT1 ENST00000379251 human ensembl 74_37 +1 known frame_shift_del c.439 p.N150fs 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SAT1 HGNC ENSG00000130066 9 0 0 5 7 58.3333 PPP2R3B 0 genome.wustl.edu 37 X 302052 302052 + Frame_Shift_Del DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 302052 302052 T - DEL PPP2R3B ENST00000390665 human ensembl 74_37 -1 known frame_shift_del c.1165 p.T389fs 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 379 1 0.263158 97 55 36.1842 FAM47C 0 genome.wustl.edu 37 X 37027077 37027077 + Frame_Shift_Del DEL C C - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 37027077 37027077 C - DEL FAM47C ENST00000358047 human ensembl 74_37 +1 known frame_shift_del c.594 p.P200fs 0.031 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 107 0 0 35 23 39.6552 PRRG1 0 genome.wustl.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 37312610 37312611 - C INS PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_ins c.393_394 p.P134fs 0.008:0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 272 1 0.3663 93 12 11.4286 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 73 0 0 20 10 33.3333 GSPT2 0 genome.wustl.edu 37 X 51487453 51487453 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 51487453 51487453 A - DEL GSPT2 ENST00000340438 human ensembl 74_37 +1 known frame_shift_del c.731 p.N246fs 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 133 0 0 53 25 32.0513 FGD1 0 genome.wustl.edu 37 X 54472572 54472572 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 54472572 54472572 G - DEL FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_del c.2856 p.E953fs 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 47 0 0 14 6 30 MTMR8 0 genome.wustl.edu 37 X 63551494 63551494 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 63551494 63551494 A - DEL MTMR8 ENST00000374852 human ensembl 74_37 -1 known frame_shift_del c.1295 p.F432fs 0.926 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 52 0 0 21 13 38.2353 FOXO4 0 genome.wustl.edu 37 X 70316610 70316610 + Frame_Shift_Del DEL G G - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 70316610 70316610 G - DEL FOXO4 ENST00000374259 human ensembl 74_37 +1 known frame_shift_del c.232 p.G79fs 0.984 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 25 0 0 4 4 50 CXCR3 0 genome.wustl.edu 37 X 70836494 70836495 + Frame_Shift_Ins INS - - T TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 70836494 70836495 - T INS CXCR3 ENST00000373691 human ensembl 74_37 -1 known frame_shift_ins c.969_968 p.V324fs 0.999:0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 108 0 0 28 9 24.3243 MAP2K4P1 0 genome.wustl.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 72744763 72744763 T - DEL MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 46 0 0 19 11 36.6667 XIST 0 genome.wustl.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 73046080 73046080 T - DEL XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 223 0 0 100 31 23.6641 XIST 0 genome.wustl.edu 37 X 73070114 73070114 + RNA DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 73070114 73070114 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ENSG00000229807 52 0 0 18 4 18.1818 COX7B 0 genome.wustl.edu 37 X 77158412 77158412 + RNA DEL T T - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 77158412 77158412 T - DEL COX7B ENST00000475465 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors COX7B HGNC ENSG00000131174 8 0 0 13 4 23.5294 BRWD3 0 genome.wustl.edu 37 X 79978170 79978171 + Frame_Shift_Ins INS - - A TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 79978170 79978171 - A INS BRWD3 ENST00000373275 human ensembl 74_37 -1 known frame_shift_ins c.1767_1766 p.L589fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 182 0 0 67 27 28.7234 FAM133A 0 genome.wustl.edu 37 X 92964569 92964569 + Frame_Shift_Del DEL A A - TCGA-BR-8078-01A-11D-2340-08 TCGA-BR-8078-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5bc1875d-e406-4a35-afca-899f61b71c47 297a9105-ac5a-4c40-b601-05d087b3c279 X 92964569 92964569 A - DEL FAM133A ENST00000322139 human ensembl 74_37 +1 known frame_shift_del c.151 p.T53fs 0.964 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 52 0 0 29 15 34.0909