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 APITD1-CORT 0 genome.wustl.edu 37 1 10493999 10493999 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 10493999 10493999 C T SNP APITD1-CORT ENST00000400900 human ensembl 74_37 +1 known missense c.152 p.S51L 0.943 superfamily_Histone-fold pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold - no_errors APITD1-CORT HGNC ENSG00000251503 162 0 0 116 23 16.5468 NTNG1 0 genome.wustl.edu 37 1 108023366 108023366 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 108023366 108023366 C A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known nonsense c.1524 p.C508* 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 15 0 0 31 7 18.4211 CLCC1 0 genome.wustl.edu 37 1 109479918 109479918 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 109479918 109479918 T C SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known silent c.1164 p.R388 0.053 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 78 0 0 59 9 13.2353 SORT1 0 genome.wustl.edu 37 1 109888405 109888405 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 109888405 109888405 G A SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known missense c.931 p.R311C 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 118 0 0 65 25 27.7778 ATXN7L2 0 genome.wustl.edu 37 1 110032674 110032674 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 110032674 110032674 A G SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.1160 p.E387G 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 106 0 0 127 22 14.7651 GSTM4 0 genome.wustl.edu 37 1 110200420 110200420 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 110200420 110200420 C T SNP GSTM4 ENST00000369836 human ensembl 74_37 +1 known missense c.286 p.R96C 0.997 superfamily_Glutathione-S-Trfase_C-like,prints_GST_mu pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 116 0 0 84 14 14.2857 UBL4B 0 genome.wustl.edu 37 1 110655253 110655253 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 110655253 110655253 C T SNP UBL4B ENST00000334179 human ensembl 74_37 +1 known missense c.97 p.R33W 0.238 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBL4B HGNC ENSG00000186150 89 0 0 91 16 14.9533 TTLL10 0 genome.wustl.edu 37 1 1118373 1118373 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 1118373 1118373 A G SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known missense c.1034 p.D345G 0.073 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 18 0 0 17 3 15 MTOR 0 genome.wustl.edu 37 1 11308061 11308061 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 11308061 11308061 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.931 p.R311C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 129 0 0 111 26 18.9781 SYT6 0 genome.wustl.edu 37 1 114641766 114641766 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 114641766 114641766 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known silent c.1314 p.P438 0.005 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 132 0 0 114 24 17.3913 SYCP1 0 genome.wustl.edu 37 1 115418728 115418728 + Silent SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 115418728 115418728 T G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known silent c.696 p.A232 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 60 0 0 29 4 12.1212 MTHFR 0 genome.wustl.edu 37 1 11854789 11854789 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 11854789 11854789 C T SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 213 0 0 156 26 14.2857 NOTCH2 0 genome.wustl.edu 37 1 120465332 120465332 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 120465332 120465332 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known silent c.4929 p.T1643 0.009 pirsf_Notch,pfam_Notch_NODP_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 152 0 0 131 29 18.125 CCNL2 0 genome.wustl.edu 37 1 1333712 1333712 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 1333712 1333712 A G SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.374 p.M125T 1.000 pfam_Cyclin_N,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 89 0 0 80 12 13.0435 PRDM2 0 genome.wustl.edu 37 1 14105788 14105788 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 14105788 14105788 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1498 p.R500W 0.492 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 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 39 0 0 48 11 18.6441 PDE4DIP 0 genome.wustl.edu 37 1 144859831 144859831 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 144859831 144859831 G T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6253 p.L2085I 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 85 0 0 121 11 8.33333 PDE4DIP 0 genome.wustl.edu 37 1 144917533 144917533 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 144917533 144917533 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1571 p.R524H 0.993 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 403 1 0.247525 347 34 8.92388 ANKRD35 0 genome.wustl.edu 37 1 145562653 145562653 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 145562653 145562653 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.2341 p.A781T 0.988 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 ANKRD35 HGNC ENSG00000198483 22 0 0 19 4 17.3913 LYSMD1 0 genome.wustl.edu 37 1 151134223 151134223 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 151134223 151134223 T C SNP LYSMD1 ENST00000368908 human ensembl 74_37 -1 known silent c.534 p.K178 0.016 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD1 HGNC ENSG00000163155 133 0 0 130 30 18.75 HRNR 0 genome.wustl.edu 37 1 152193102 152193102 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 152193102 152193102 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1003 p.R335C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 137 0 0 137 36 20.8092 LCE3A 0 genome.wustl.edu 37 1 152595541 152595541 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 152595541 152595541 C T SNP LCE3A ENST00000335674 human ensembl 74_37 -1 known silent c.39 p.P13 0.012 NULL NULL - no_errors LCE3A HGNC ENSG00000185962 79 0 0 108 21 16.2791 TDRD10 0 genome.wustl.edu 37 1 154516454 154516454 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 154516454 154516454 G A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.519 p.V173 0.040 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 177 0 0 142 24 14.4578 PBXIP1 0 genome.wustl.edu 37 1 154920759 154920759 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 154920759 154920759 G A SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known missense c.28 p.R10W 0.994 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 17 0 0 20 8 28.5714 SHC1 0 genome.wustl.edu 37 1 154938496 154938496 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 154938496 154938496 C T SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.1310 p.R437Q 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 99 0 0 98 22 18.3333 ZBTB7B 0 genome.wustl.edu 37 1 154987334 154987334 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 154987334 154987334 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.300 p.G100 0.194 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB7B HGNC ENSG00000160685 84 0 0 98 18 15.5172 ADAM15 0 genome.wustl.edu 37 1 155032817 155032817 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 155032817 155032817 C T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known silent c.2205 p.Y735 0.998 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 51 0 0 71 9 11.25 MEX3A 0 genome.wustl.edu 37 1 156046883 156046883 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 156046883 156046883 A C SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.1045 p.S349A 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 68 0 0 99 15 13.1579 HAPLN2 0 genome.wustl.edu 37 1 156594190 156594190 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 156594190 156594190 T C SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known missense c.487 p.Y163H 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_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 HAPLN2 HGNC ENSG00000132702 21 0 0 17 4 19.0476 PRCC 0 genome.wustl.edu 37 1 156737593 156737593 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 156737593 156737593 T C SNP PRCC ENST00000271526 human ensembl 74_37 +1 known silent c.30 p.D10 1.000 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 18 0 0 18 5 21.7391 CD1A 0 genome.wustl.edu 37 1 158225130 158225130 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 158225130 158225130 G T SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.315 p.L105F 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 32 0 0 43 8 15.6863 ATP1A4 0 genome.wustl.edu 37 1 160137219 160137219 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 160137219 160137219 G A SNP ATP1A4 ENST00000477338 human ensembl 74_37 +1 known missense c.1508 p.R503K 0.252 NULL pfam_ATPase_P-typ_transduc_dom_A,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_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 99 0 0 79 15 15.9574 PEA15 0 genome.wustl.edu 37 1 160181415 160181415 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 160181415 160181415 C T SNP PEA15 ENST00000360472 human ensembl 74_37 +1 known silent c.81 p.C27 1.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors PEA15 HGNC ENSG00000162734 91 0 0 65 7 9.72222 C1orf226 0 genome.wustl.edu 37 1 162353432 162353432 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 162353432 162353432 G A SNP C1orf226 ENST00000426197 human ensembl 74_37 +1 known missense c.907 p.D303N 0.992 NULL NULL - no_errors C1orf226 HGNC ENSG00000239887 17 0 0 16 5 23.8095 LMX1A 0 genome.wustl.edu 37 1 165218652 165218652 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 165218652 165218652 T C SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.489 p.S163 0.761 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 76 0 0 67 19 22.093 POU2F1 0 genome.wustl.edu 37 1 167365537 167365537 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 167365537 167365537 C T SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known silent c.1002 p.L334 0.876 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 137 0 0 91 21 18.75 CROCCP2 0 genome.wustl.edu 37 1 16945401 16945401 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 16945401 16945401 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors CROCCP2 HGNC ENSG00000215908 53 0 0 59 7 10.6061 MST1L 0 genome.wustl.edu 37 1 17084815 17084815 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 17084815 17084815 G A SNP MST1L ENST00000544155 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors MST1L HGNC ENSG00000186715 13 0 0 13 5 27.7778 BRINP2 0 genome.wustl.edu 37 1 177250045 177250045 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 177250045 177250045 A C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1733 p.K578T 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 41 0 0 42 4 8.69565 CEP350 0 genome.wustl.edu 37 1 179993662 179993662 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 179993662 179993662 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.3495 p.S1165 0.004 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 29 0 0 39 7 15.2174 TAS1R2 0 genome.wustl.edu 37 1 19181096 19181096 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 19181096 19181096 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.868 p.R290C 0.006 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 - no_errors TAS1R2 HGNC ENSG00000179002 40 0 0 47 14 22.9508 CDC73 0 genome.wustl.edu 37 1 193121556 193121556 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 193121556 193121556 G A SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.954 p.M318I 1.000 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 38 0 0 20 6 23.0769 UBR4 0 genome.wustl.edu 37 1 19487483 19487483 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 19487483 19487483 A C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.5334 p.A1778 0.217 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 60 0 0 45 10 18.1818 AKR7L 0 genome.wustl.edu 37 1 19593833 19593833 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 19593833 19593833 C A SNP AKR7L ENST00000420396 human ensembl 74_37 -1 known missense c.423 p.W141C 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 87 0 0 80 15 15.7895 GABRD 0 genome.wustl.edu 37 1 1961102 1961102 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 1961102 1961102 C T SNP GABRD ENST00000378585 human ensembl 74_37 +1 known silent c.960 p.F320 0.878 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 50 0 0 42 10 19.2308 CFHR2 0 genome.wustl.edu 37 1 196918663 196918663 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 196918663 196918663 C A SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.137 p.P46H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 55 0 0 33 8 19.5122 F13B 0 genome.wustl.edu 37 1 197030128 197030128 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 197030128 197030128 G T SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.529 p.Q177K 0.004 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 76 0 0 59 15 20.2703 KIF21B 0 genome.wustl.edu 37 1 200959409 200959409 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 200959409 200959409 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.2887 p.R963W 0.733 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 29 0 0 40 7 14.8936 LAD1 0 genome.wustl.edu 37 1 201356046 201356046 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 201356046 201356046 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.485 p.R162Q 0.625 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 90 0 0 95 20 17.3913 NFASC 0 genome.wustl.edu 37 1 204943372 204943372 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 204943372 204943372 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1345 p.R449W 0.995 pfam_Ig_I-set,pfam_Immunoglobulin,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 31 0 0 30 4 11.7647 PIGR 0 genome.wustl.edu 37 1 207107940 207107940 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 207107940 207107940 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known silent c.1530 p.D510 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 98 0 0 88 15 14.5631 CR1 0 genome.wustl.edu 37 1 207679348 207679348 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 207679348 207679348 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.221 p.R74H 0.947 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 CR1 HGNC ENSG00000203710 125 0 0 93 21 18.4211 RPS6KC1 0 genome.wustl.edu 37 1 213303055 213303055 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 213303055 213303055 C T SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.658 p.R220W 0.959 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 75 0 0 40 8 16.6667 USH2A 0 genome.wustl.edu 37 1 216062163 216062163 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 216062163 216062163 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7828 p.L2610F 0.727 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 73 0 0 59 13 18.0556 LDLRAD2 0 genome.wustl.edu 37 1 22140997 22140997 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 22140997 22140997 C T SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known silent c.192 p.C64 0.981 superfamily_CUB_dom pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 52 0 0 88 5 5.37634 SKI 0 genome.wustl.edu 37 1 2235477 2235477 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 2235477 2235477 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.1410 p.P470 0.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 26 0 0 35 13 27.0833 TP53BP2 0 genome.wustl.edu 37 1 224009062 224009062 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 224009062 224009062 A G SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.35 p.L12P 0.998 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 249 0 0 185 37 16.6667 CDC42BPA 0 genome.wustl.edu 37 1 227348245 227348245 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 227348245 227348245 G A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.692 p.T231M 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_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 - no_errors CDC42BPA HGNC ENSG00000143776 89 0 0 43 10 18.8679 C1QA 0 genome.wustl.edu 37 1 22965798 22965798 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 22965798 22965798 T C SNP C1QA ENST00000374642 human ensembl 74_37 +1 known silent c.636 p.G212 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 C1QA HGNC ENSG00000173372 75 0 0 60 14 18.9189 MAP10 0 genome.wustl.edu 37 1 232942219 232942219 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 232942219 232942219 C T SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.1450 p.R484C 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 59 0 0 54 14 20.5882 PCNXL2 0 genome.wustl.edu 37 1 233388424 233388424 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 233388424 233388424 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.1945 p.G649S 0.224 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 139 0 0 100 27 21.2598 RYR2 0 genome.wustl.edu 37 1 237608789 237608789 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 237608789 237608789 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1253 p.R418Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 58 0 0 80 8 9.09091 GREM2 0 genome.wustl.edu 37 1 240656622 240656622 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 240656622 240656622 C T SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.154 p.V52M 1.000 pfam_DAN,pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 62 0 0 67 10 12.987 WDR64 0 genome.wustl.edu 37 1 241958536 241958536 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 241958536 241958536 G A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2995 p.V999M 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 99 0 0 77 12 13.4831 KIF26B 0 genome.wustl.edu 37 1 245861420 245861420 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 245861420 245861420 G T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.5837 p.R1946L 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 KIF26B HGNC ENSG00000162849 27 0 0 26 6 18.75 GCSAML 0 genome.wustl.edu 37 1 247719754 247719754 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 247719754 247719754 T C SNP GCSAML ENST00000366488 human ensembl 74_37 +1 known silent c.75 p.D25 0.001 NULL NULL - no_errors GCSAML HGNC ENSG00000169224 22 0 0 13 6 31.5789 OR2L13 0 genome.wustl.edu 37 1 248262815 248262815 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 248262815 248262815 C T SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known silent c.138 p.H46 0.001 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 OR2L13 HGNC ENSG00000196071 140 0 0 125 26 17.2185 OR2T4 0 genome.wustl.edu 37 1 248525518 248525518 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 248525518 248525518 A C SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.636 p.E212D 0.004 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 OR2T4 HGNC ENSG00000196944 193 1 0.515464 183 21 10.2941 OR2T6 0 genome.wustl.edu 37 1 248550993 248550993 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 248550993 248550993 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known silent c.84 p.F28 0.030 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 95 0 0 69 12 14.8148 ARID1A 0 genome.wustl.edu 37 1 27099909 27099909 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 27099909 27099909 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3788 p.A1263V 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 54 0 0 51 13 20.3125 EPB41 0 genome.wustl.edu 37 1 29365854 29365854 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 29365854 29365854 A G SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.1552 p.R518G 1.000 pirsf_Band_41_protein,pfam_FERM-adjacent pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 115 0 0 101 17 14.4068 PRDM16 0 genome.wustl.edu 37 1 3328391 3328391 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 3328391 3328391 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1630 p.D544N 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 118 1 0.840336 125 33 20.8861 PRDM16 0 genome.wustl.edu 37 1 3328975 3328975 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 3328975 3328975 C A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known nonsense c.2214 p.Y738* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 101 0 0 103 22 17.6 ZNF362 0 genome.wustl.edu 37 1 33745971 33745971 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 33745971 33745971 C T SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.596 p.A199V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 42 0 0 44 14 24.1379 C1orf94 0 genome.wustl.edu 37 1 34666581 34666581 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 34666581 34666581 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known silent c.1218 p.S406 0.015 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 27 0 0 26 7 21.2121 ZC3H12A 0 genome.wustl.edu 37 1 37949047 37949047 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 37949047 37949047 G T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.1635 p.R545S 0.017 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 89 0 0 124 14 10.1449 GNL2 0 genome.wustl.edu 37 1 38034527 38034527 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 38034527 38034527 T G SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.1793 p.K598T 0.889 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 227 0 0 175 32 15.4589 SZT2 0 genome.wustl.edu 37 1 43888807 43888807 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 43888807 43888807 G T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2075 p.R692L 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 18 0 0 9 3 25 HYI 0 genome.wustl.edu 37 1 43916935 43916935 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 43916935 43916935 G A SNP HYI ENST00000372425 human ensembl 74_37 -1 known missense c.808 p.R270W 0.002 NULL pfam_Xyl_isomerase-like_TIM-brl,superfamily_Xyl_isomerase-like_TIM-brl - no_errors HYI HGNC ENSG00000178922 124 0 0 117 31 20.9459 TESK2 0 genome.wustl.edu 37 1 45813321 45813321 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 45813321 45813321 A G SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.668 p.M223T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 175 0 0 155 27 14.8352 LRRC41 0 genome.wustl.edu 37 1 46744617 46744617 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 46744617 46744617 G A SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.2359 p.R787W 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 79 0 0 72 16 18.1818 ZCCHC11 0 genome.wustl.edu 37 1 52927267 52927267 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 52927267 52927267 A G SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.3149 p.I1050T 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 34 0 0 35 9 20.4545 USP24 0 genome.wustl.edu 37 1 55559693 55559693 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 55559693 55559693 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.5791 p.R1931W 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 19 0 0 18 8 30.7692 FGGY 0 genome.wustl.edu 37 1 60106990 60106990 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 60106990 60106990 G A SNP FGGY ENST00000371218 human ensembl 74_37 +1 novel silent c.1260 p.A420 0.000 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 27 0 0 21 4 16 DNAJC6 0 genome.wustl.edu 37 1 65852530 65852530 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 65852530 65852530 C A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.1031 p.P344H 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 72 0 0 46 11 19.2982 MIER1 0 genome.wustl.edu 37 1 67411943 67411943 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 67411943 67411943 A G SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.304 p.T102A 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 94 0 0 68 7 9.33333 LRRC7 0 genome.wustl.edu 37 1 70257797 70257797 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 70257797 70257797 T C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.261 p.T87 0.924 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 77 0 0 46 6 11.5385 LRRC7 0 genome.wustl.edu 37 1 70503937 70503937 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 70503937 70503937 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.2316 p.S772 0.017 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 188 0 0 156 28 15.2174 CAMTA1 0 genome.wustl.edu 37 1 7527916 7527916 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 7527916 7527916 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.465 p.S155 1.000 pfam_CG-1_dom 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 164 0 0 144 26 15.2941 CLCA4 0 genome.wustl.edu 37 1 87041015 87041015 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 87041015 87041015 G A SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.1684 p.V562M 0.848 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 61 0 0 48 11 18.6441 GBP6 0 genome.wustl.edu 37 1 89846020 89846020 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 89846020 89846020 T C SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.701 p.F234S 0.964 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 45 0 0 38 16 29.6296 SLC2A5 0 genome.wustl.edu 37 1 9099965 9099965 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 9099965 9099965 G A SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.779 p.A260V 0.075 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 31 0 0 36 8 18.1818 ZNF644 0 genome.wustl.edu 37 1 91405341 91405341 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 91405341 91405341 A G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.1570 p.Y524H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 91 0 0 77 19 19.7917 ABCA4 0 genome.wustl.edu 37 1 94480230 94480230 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 94480230 94480230 T C SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.5329 p.M1777V 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 158 0 0 138 26 15.8537 TMEM201 0 genome.wustl.edu 37 1 9656056 9656056 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 9656056 9656056 C T SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known silent c.222 p.N74 1.000 pfam_Ima1_N pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 42 0 0 26 6 18.75 SEMA4G 0 genome.wustl.edu 37 10 102732747 102732747 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 102732747 102732747 G A SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known silent c.78 p.P26 0.696 NULL 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 SEMA4G HGNC ENSG00000095539 89 0 0 88 23 20.7207 SORCS3 0 genome.wustl.edu 37 10 106401696 106401696 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 106401696 106401696 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.611 p.S204L 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 15 0 0 16 5 23.8095 DUSP5 0 genome.wustl.edu 37 10 112257938 112257938 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 112257938 112257938 C T SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.59 p.A20V 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 35 0 0 50 11 18.0328 ADRB1 0 genome.wustl.edu 37 10 115804478 115804478 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 115804478 115804478 T C SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.587 p.M196T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM 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_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 44 0 0 56 16 22.2222 PNLIPRP3 0 genome.wustl.edu 37 10 118228695 118228695 + Splice_Site SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 118228695 118228695 A G SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known splice_site c.928-2 e9-2 0.996 - - - no_errors PNLIPRP3 HGNC ENSG00000203837 51 0 0 32 8 20 KCNK18 0 genome.wustl.edu 37 10 118969223 118969223 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 118969223 118969223 C A SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.568 p.P190T 0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 90 0 0 96 15 13.5135 CHST15 0 genome.wustl.edu 37 10 125769827 125769827 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 125769827 125769827 C A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1524 p.L508F 0.939 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 21 0 0 13 3 18.75 UROS 0 genome.wustl.edu 37 10 127491579 127491579 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 127491579 127491579 C A SNP UROS ENST00000368778 human ensembl 74_37 -1 known nonsense c.409 p.G137* 0.013 NULL pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 46 0 0 31 4 11.4286 FAM196A 0 genome.wustl.edu 37 10 128973966 128973966 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 128973966 128973966 G T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known silent c.694 p.R232 0.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 27 0 0 44 6 12 CUBN 0 genome.wustl.edu 37 10 17126369 17126369 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 17126369 17126369 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.2202 p.C734 0.542 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_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 - no_errors CUBN HGNC ENSG00000107611 48 0 0 35 4 10.2564 PDSS1 0 genome.wustl.edu 37 10 27024408 27024408 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 27024408 27024408 T C SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known missense c.926 p.V309A 0.998 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 54 0 0 47 12 20.339 ZEB1 0 genome.wustl.edu 37 10 31608218 31608218 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 31608218 31608218 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.55 p.N19D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 8 0 0 15 3 16.6667 KIF5B 0 genome.wustl.edu 37 10 32324901 32324901 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 32324901 32324901 C A SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.733 p.G245C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 60 0 0 45 6 11.7647 ITGB1 0 genome.wustl.edu 37 10 33214866 33214866 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 33214866 33214866 C T SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.719 p.R240H 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 113 0 0 82 13 13.6842 CCNY 0 genome.wustl.edu 37 10 35855055 35855055 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 35855055 35855055 C T SNP CCNY ENST00000374704 human ensembl 74_37 +1 known missense c.851 p.A284V 1.000 pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC ENSG00000108100 97 0 0 69 18 20.6897 ZNF25 0 genome.wustl.edu 37 10 38241571 38241571 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 38241571 38241571 G T SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known silent c.855 p.P285 0.873 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 ZNF25 HGNC ENSG00000175395 66 0 0 57 4 6.55738 ZNF33B 0 genome.wustl.edu 37 10 43089480 43089480 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 43089480 43089480 A G SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known silent c.918 p.S306 0.998 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 ZNF33B HGNC ENSG00000196693 118 0 0 97 7 6.73077 HNRNPF 0 genome.wustl.edu 37 10 43882176 43882176 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 43882176 43882176 T G SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.1157 p.Q386P 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 141 0 0 149 32 17.6796 GPRIN2 0 genome.wustl.edu 37 10 47000005 47000005 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 47000005 47000005 G A SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known silent c.1125 p.V375 0.000 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 146 0 0 133 13 8.90411 NPY4R 0 genome.wustl.edu 37 10 47087826 47087826 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 47087826 47087826 A G SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.1043 p.E348G 0.130 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 176 0 0 158 14 8.13953 RBP3 0 genome.wustl.edu 37 10 48382208 48382208 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 48382208 48382208 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.3441 p.T1147 0.011 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 39 0 0 52 6 10.3448 SLC18A3 0 genome.wustl.edu 37 10 50819083 50819083 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 50819083 50819083 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.297 p.A99 0.690 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 57 0 0 73 16 17.9775 BICC1 0 genome.wustl.edu 37 10 60573605 60573605 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 60573605 60573605 C T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2392 p.L798F 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 111 0 0 102 28 21.5385 FAM13C 0 genome.wustl.edu 37 10 61011287 61011287 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 61011287 61011287 A G SNP FAM13C ENST00000435852 human ensembl 74_37 -1 putative missense c.1682 p.L561S 0.001 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 97 0 0 42 8 16 ANK3 0 genome.wustl.edu 37 10 61833539 61833539 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 61833539 61833539 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.7100 p.R2367Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 97 0 0 71 12 14.4578 CTNNA3 0 genome.wustl.edu 37 10 68280472 68280472 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 68280472 68280472 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.1434 p.T478 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 85 0 0 68 16 19.0476 CCAR1 0 genome.wustl.edu 37 10 70509303 70509303 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 70509303 70509303 C T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.979 p.R327C 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 59 0 0 46 13 22.0339 SRGN 0 genome.wustl.edu 37 10 70863692 70863692 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 70863692 70863692 T C SNP SRGN ENST00000242465 human ensembl 74_37 +1 known missense c.293 p.F98S 0.947 pfam_Serglycin pfam_Serglycin - no_errors SRGN HGNC ENSG00000122862 63 0 0 71 14 16.4706 CHST3 0 genome.wustl.edu 37 10 73767393 73767393 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 73767393 73767393 G A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.604 p.V202M 0.895 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 20 0 0 33 7 17.5 SPOCK2 0 genome.wustl.edu 37 10 73826724 73826724 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 73826724 73826724 G T SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known silent c.864 p.S288 1.000 pfam_SPARC/Testican_Ca-bd-dom 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 SPOCK2 HGNC ENSG00000107742 96 0 0 129 14 9.79021 CAMK2G 0 genome.wustl.edu 37 10 75606993 75606993 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 75606993 75606993 G T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.809 p.P270Q 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 65 0 0 51 10 16.3934 SH2D4B 0 genome.wustl.edu 37 10 82331221 82331221 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 82331221 82331221 C T SNP SH2D4B ENST00000470604 human ensembl 74_37 +1 known missense c.379 p.R127W 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 50 0 0 39 12 23.5294 ANKRD22 0 genome.wustl.edu 37 10 90591666 90591666 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 90591666 90591666 C T SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known missense c.139 p.A47T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 235 1 0.423729 233 36 13.3829 IFIT5 0 genome.wustl.edu 37 10 91178104 91178104 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 91178104 91178104 G A SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.1148 p.G383D 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 52 0 0 40 5 11.1111 TCTN3 0 genome.wustl.edu 37 10 97447373 97447373 + Silent SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 97447373 97447373 A T SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known silent c.603 p.T201 0.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 64 0 0 37 3 7.5 C10orf12 0 genome.wustl.edu 37 10 98744071 98744071 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 98744071 98744071 G A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.2924 p.S975N 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 122 0 0 93 21 18.4211 SLIT1 0 genome.wustl.edu 37 10 98766411 98766411 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 98766411 98766411 G A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.3408 p.C1136 1.000 smart_Fol_N,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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 SLIT1 HGNC ENSG00000187122 41 0 0 38 6 13.6364 MUC6 0 genome.wustl.edu 37 11 1015989 1015989 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 1015989 1015989 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6812 p.S2271L 0.000 NULL 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 162 0 0 161 26 13.9037 DDI1 0 genome.wustl.edu 37 11 103908053 103908053 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 103908053 103908053 C T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.503 p.A168V 0.999 NULL 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 97 0 0 113 17 13.0769 HTR3B 0 genome.wustl.edu 37 11 113813714 113813714 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 113813714 113813714 G A SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.707 p.R236H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 57 0 0 43 10 18.8679 NXPE4 0 genome.wustl.edu 37 11 114453511 114453511 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 114453511 114453511 G A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.329 p.T110M 0.001 superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 150 0 0 135 34 20.1183 BCL9L 0 genome.wustl.edu 37 11 118773280 118773280 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 118773280 118773280 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.1172 p.R391H 0.811 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 41 0 0 57 9 13.6364 VPS11 0 genome.wustl.edu 37 11 118942398 118942398 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 118942398 118942398 G T SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.726 p.Q242H 1.000 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 62 0 0 53 9 14.5161 RNF26 0 genome.wustl.edu 37 11 119206740 119206740 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 119206740 119206740 G A SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.908 p.R303Q 0.163 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 45 0 0 37 9 19.5652 CCDC15 0 genome.wustl.edu 37 11 124824758 124824758 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 124824758 124824758 G A SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.130 p.A44T 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 73 0 0 80 6 6.97674 ARHGAP32 0 genome.wustl.edu 37 11 128840482 128840482 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 128840482 128840482 G T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4584 p.A1528 0.133 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 52 0 0 49 12 19.6721 TEAD1 0 genome.wustl.edu 37 11 12901216 12901216 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 12901216 12901216 C T SNP TEAD1 ENST00000526600 human ensembl 74_37 +1 putative missense c.4 p.R2C 0.000 pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD1 HGNC ENSG00000187079 59 0 0 39 15 27.7778 ARNTL 0 genome.wustl.edu 37 11 13402723 13402723 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 13402723 13402723 G A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known silent c.1539 p.S513 0.003 NULL 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 96 0 0 82 20 19.6078 PRMT3 0 genome.wustl.edu 37 11 20515731 20515731 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 20515731 20515731 C T SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known missense c.1417 p.P473S 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 193 0 0 135 14 9.39597 BDNF 0 genome.wustl.edu 37 11 27680043 27680043 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 27680043 27680043 T C SNP BDNF ENST00000438929 human ensembl 74_37 -1 known silent c.315 p.E105 1.000 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 116 0 0 107 21 16.4062 IFITM5 0 genome.wustl.edu 37 11 299306 299306 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 299306 299306 T C SNP IFITM5 ENST00000382614 human ensembl 74_37 -1 known missense c.185 p.K62R 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM5 HGNC ENSG00000206013 10 0 0 11 4 26.6667 PAX6 0 genome.wustl.edu 37 11 31823109 31823109 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 31823109 31823109 G A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known silent c.399 p.S133 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom 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 71 0 0 55 13 19.1176 RNH1 0 genome.wustl.edu 37 11 498110 498110 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 498110 498110 A G SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.988 p.C330R 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 49 0 0 43 5 10.4167 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 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 TRIM48 HGNC ENSG00000150244 60 0 0 45 6 11.7647 UBQLN3 0 genome.wustl.edu 37 11 5529402 5529402 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 5529402 5529402 A G SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1387 p.S463P 0.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 50 0 0 56 17 23.2877 OR4C15 0 genome.wustl.edu 37 11 55322544 55322544 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 55322544 55322544 C A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.762 p.I254 0.487 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 57 0 0 43 10 18.8679 OR5F1 0 genome.wustl.edu 37 11 55761467 55761467 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 55761467 55761467 A C SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.635 p.L212R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 79 0 0 54 16 22.8571 OR5M3 0 genome.wustl.edu 37 11 56237279 56237279 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 56237279 56237279 C A SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.695 p.R232M 0.147 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 77 0 0 56 8 12.5 TNKS1BP1 0 genome.wustl.edu 37 11 57068391 57068391 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 57068391 57068391 A G SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.5096 p.L1699P 0.906 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 128 0 0 112 19 14.5038 TNKS1BP1 0 genome.wustl.edu 37 11 57080070 57080070 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 57080070 57080070 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2092 p.G698S 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 72 0 0 68 15 18.0723 CTNND1 0 genome.wustl.edu 37 11 57569533 57569533 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 57569533 57569533 T C SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.1285 p.C429R 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 168 1 0.591716 158 35 18.1347 GLYATL1 0 genome.wustl.edu 37 11 58711066 58711066 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 58711066 58711066 G A SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known silent c.75 p.A25 0.010 NULL pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 34 0 0 32 4 11.1111 SCGB1D4 0 genome.wustl.edu 37 11 62064988 62064988 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 62064988 62064988 G A SNP SCGB1D4 ENST00000358585 human ensembl 74_37 -1 known silent c.198 p.T66 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D4 HGNC ENSG00000197745 254 0 0 221 34 13.3333 MTA2 0 genome.wustl.edu 37 11 62361871 62361871 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 62361871 62361871 C T SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known silent c.1701 p.G567 0.941 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 103 0 0 92 17 15.5963 LRRN4CL 0 genome.wustl.edu 37 11 62455768 62455768 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 62455768 62455768 G A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known silent c.213 p.C71 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 26 0 0 30 9 23.0769 CNGA4 0 genome.wustl.edu 37 11 6260939 6260939 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 6260939 6260939 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.190 p.G64S 0.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 36 0 0 29 5 14.7059 SLC22A11 0 genome.wustl.edu 37 11 64336156 64336156 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64336156 64336156 C T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.1288 p.R430C 0.769 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 98 0 0 82 18 18 PYGM 0 genome.wustl.edu 37 11 64527189 64527189 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64527189 64527189 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.182 p.R61H 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 236 0 0 227 56 19.788 CDC42BPG 0 genome.wustl.edu 37 11 64603009 64603009 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64603009 64603009 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1843 p.A615T 0.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,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,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 118 0 0 110 24 17.9104 CDC42BPG 0 genome.wustl.edu 37 11 64606620 64606620 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64606620 64606620 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.761 p.G254D 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,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,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 157 0 0 131 27 17.0886 ATG2A 0 genome.wustl.edu 37 11 64665575 64665575 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64665575 64665575 C A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.4847 p.G1616V 0.894 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 99 0 0 80 19 19.1919 VPS51 0 genome.wustl.edu 37 11 64877280 64877280 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 64877280 64877280 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1763 p.S588L 0.998 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 16 0 0 16 2 11.1111 SSSCA1 0 genome.wustl.edu 37 11 65339169 65339169 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65339169 65339169 G A SNP SSSCA1 ENST00000309328 human ensembl 74_37 +1 known silent c.564 p.A188 0.995 NULL pfam_SSSCA1 - no_errors SSSCA1 HGNC ENSG00000173465 31 0 0 28 2 6.66667 MAP3K11 0 genome.wustl.edu 37 11 65365879 65365879 + Silent SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65365879 65365879 T G SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.2427 p.S809 0.916 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 29 0 0 35 6 14.6341 PCNXL3 0 genome.wustl.edu 37 11 65396109 65396109 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65396109 65396109 T G SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3746 p.I1249S 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 58 0 0 67 15 18.2927 KAT5 0 genome.wustl.edu 37 11 65481995 65481995 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65481995 65481995 G A SNP KAT5 ENST00000341318 human ensembl 74_37 +1 known silent c.720 p.P240 0.250 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 62 0 0 53 16 23.1884 FIBP 0 genome.wustl.edu 37 11 65655490 65655490 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65655490 65655490 C T SNP FIBP ENST00000338369 human ensembl 74_37 -1 known missense c.199 p.E67K 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 20 0 0 14 7 33.3333 CCDC85B 0 genome.wustl.edu 37 11 65658545 65658545 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65658545 65658545 G A SNP CCDC85B ENST00000312579 human ensembl 74_37 +1 known silent c.291 p.Q97 1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85B HGNC ENSG00000175602 11 0 0 4 3 42.8571 SF3B2 0 genome.wustl.edu 37 11 65827423 65827423 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 65827423 65827423 G A SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.1572 p.L524 1.000 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 70 0 0 69 12 14.8148 DNHD1 0 genome.wustl.edu 37 11 6589805 6589805 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 6589805 6589805 A G SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known silent c.12660 p.P4220 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 57 0 0 46 6 11.5385 KDM2A 0 genome.wustl.edu 37 11 67018078 67018078 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 67018078 67018078 A G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known silent c.2577 p.E859 0.097 NULL 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 KDM2A HGNC ENSG00000173120 27 0 0 23 11 32.3529 RPS6KB2 0 genome.wustl.edu 37 11 67201891 67201891 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 67201891 67201891 G A SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.1091 p.R364Q 0.259 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 76 0 0 50 14 21.875 FAM86C2P 0 genome.wustl.edu 37 11 67564234 67564234 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 67564234 67564234 C T SNP FAM86C2P ENST00000525180 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC ENSG00000160172 89 0 0 100 12 10.7143 OLFML1 0 genome.wustl.edu 37 11 7530851 7530851 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 7530851 7530851 A G SNP OLFML1 ENST00000329293 human ensembl 74_37 +1 known missense c.641 p.Q214R 0.995 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 66 0 0 59 17 22.3684 GDPD4 0 genome.wustl.edu 37 11 76938960 76938960 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 76938960 76938960 G A SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known missense c.1474 p.R492W 0.344 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 104 0 0 83 22 20.9524 PDDC1 0 genome.wustl.edu 37 11 774114 774114 + Splice_Site SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 774114 774114 C A SNP PDDC1 ENST00000397472 human ensembl 74_37 -1 known splice_site c.142-1 e3-1 1.000 - - - no_errors PDDC1 HGNC ENSG00000177225 53 0 0 47 9 16.0714 KCTD21 0 genome.wustl.edu 37 11 77885448 77885448 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 77885448 77885448 A C SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known silent c.153 p.R51 0.220 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 56 0 0 48 17 26.1538 NLRP10 0 genome.wustl.edu 37 11 7982583 7982583 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 7982583 7982583 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known silent c.576 p.T192 0.002 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 64 0 0 50 6 10.7143 EIF3F 0 genome.wustl.edu 37 11 8009136 8009136 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 8009136 8009136 T C SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known silent c.282 p.G94 0.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 26 0 0 29 8 21.6216 ST5 0 genome.wustl.edu 37 11 8720766 8720766 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 8720766 8720766 C A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.2892 p.V964 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 ST5 HGNC ENSG00000166444 36 0 0 40 7 14.8936 PIWIL4 0 genome.wustl.edu 37 11 94320238 94320238 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 94320238 94320238 G A SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.739 p.A247T 0.877 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 135 0 0 113 21 15.6716 IPO7 0 genome.wustl.edu 37 11 9459747 9459747 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 9459747 9459747 C T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known silent c.2610 p.N870 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 127 0 0 108 23 17.5573 CLEC7A 0 genome.wustl.edu 37 12 10278042 10278042 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 10278042 10278042 G T SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.346 p.L116I 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 39 0 0 28 4 12.5 PAH 0 genome.wustl.edu 37 12 103246714 103246714 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 103246714 103246714 G A SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.721 p.R241C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 57 0 0 50 14 21.875 TMEM52B 0 genome.wustl.edu 37 12 10339021 10339021 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 10339021 10339021 T C SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.140 p.L47S 0.998 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 60 0 0 54 14 20.5882 BTBD11 0 genome.wustl.edu 37 12 108004005 108004005 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 108004005 108004005 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 101 0 0 122 28 18.6667 YBX3 0 genome.wustl.edu 37 12 10865891 10865891 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 10865891 10865891 A G SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known silent c.492 p.P164 0.332 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 128 0 0 145 24 14.2012 SELPLG 0 genome.wustl.edu 37 12 109017883 109017883 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 109017883 109017883 A C SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known silent c.201 p.T67 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 55 0 0 50 10 16.6667 DAO 0 genome.wustl.edu 37 12 109286789 109286789 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 109286789 109286789 C T SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.484 p.R162W 0.962 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 35 0 0 27 3 10 MMAB 0 genome.wustl.edu 37 12 109998868 109998868 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 109998868 109998868 G A SNP MMAB ENST00000545712 human ensembl 74_37 -1 known silent c.561 p.A187 0.916 pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like - no_errors MMAB HGNC ENSG00000139428 46 0 0 57 10 14.9254 TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 61 0 0 49 8 14.0351 TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 30 0 0 28 5 15.1515 TBX3 0 genome.wustl.edu 37 12 115114185 115114185 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 115114185 115114185 T C SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known silent c.1032 p.A344 0.002 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 81 0 0 74 17 18.6813 BCL7A 0 genome.wustl.edu 37 12 122468634 122468634 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 122468634 122468634 A G SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known missense c.121 p.T41A 1.000 pfam_BCL7 pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 70 0 0 78 12 13.3333 SBNO1 0 genome.wustl.edu 37 12 123810761 123810761 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 123810761 123810761 A G SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.1813 p.C605R 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 192 0 0 123 25 16.8919 DNAH10 0 genome.wustl.edu 37 12 124409684 124409684 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 124409684 124409684 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.11500 p.R3834C 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 62 0 0 52 7 11.8644 GPR19 0 genome.wustl.edu 37 12 12814881 12814881 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 12814881 12814881 C T SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.502 p.V168I 1.000 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_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 86 0 0 92 14 13.2075 CHFR 0 genome.wustl.edu 37 12 133438121 133438121 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 133438121 133438121 G A SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.719 p.A240V 0.002 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 86 0 0 94 16 14.5455 LMO3 0 genome.wustl.edu 37 12 16753742 16753742 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 16753742 16753742 C T SNP LMO3 ENST00000541295 human ensembl 74_37 -1 known missense c.107 p.R36Q 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 58 0 0 55 16 22.5352 ABCC9 0 genome.wustl.edu 37 12 21965082 21965082 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 21965082 21965082 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.4112 p.V1371A 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 87 0 0 40 9 18.3673 PKP2 0 genome.wustl.edu 37 12 33030839 33030839 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 33030839 33030839 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.975 p.A325 0.002 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 41 0 0 54 12 18.1818 RAPGEF3 0 genome.wustl.edu 37 12 48141517 48141517 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 48141517 48141517 G T SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known missense c.1451 p.P484H 0.997 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 32 0 0 47 11 18.9655 LMBR1L 0 genome.wustl.edu 37 12 49504458 49504458 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 49504458 49504458 C T SNP LMBR1L ENST00000548983 human ensembl 74_37 -1 known rna NULL NULL 0.065 - - - no_errors LMBR1L HGNC ENSG00000139636 10 0 0 11 4 26.6667 FMNL3 0 genome.wustl.edu 37 12 50048048 50048048 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 50048048 50048048 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.998 p.S333L 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 42 0 0 36 11 23.4043 CSRNP2 0 genome.wustl.edu 37 12 51461619 51461619 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 51461619 51461619 C T SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known missense c.545 p.R182Q 1.000 prints_Cys/Ser-rich_nuc_prot prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 111 0 0 111 26 18.9781 AMHR2 0 genome.wustl.edu 37 12 53818998 53818998 + Silent SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 53818998 53818998 C G SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known silent c.474 p.L158 0.063 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,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 AMHR2 HGNC ENSG00000135409 95 0 0 108 11 9.2437 NTF3 0 genome.wustl.edu 37 12 5603748 5603748 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 5603748 5603748 A G SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known missense c.407 p.Y136C 0.843 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 100 0 0 95 24 20.1681 ITGA7 0 genome.wustl.edu 37 12 56094925 56094925 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 56094925 56094925 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.428 p.R143Q 0.983 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 108 0 0 79 23 22.549 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 146 0 0 129 22 14.5695 ERBB3 0 genome.wustl.edu 37 12 56487212 56487212 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 56487212 56487212 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1358 p.R453H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_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 98 0 0 82 14 14.5833 NACA 0 genome.wustl.edu 37 12 57115159 57115159 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 57115159 57115159 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.155 p.A52V 0.004 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 26 0 0 30 5 14.2857 ARHGAP9 0 genome.wustl.edu 37 12 57869299 57869299 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 57869299 57869299 G A SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1468 p.P490S 0.155 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 9 0 0 26 4 13.3333 DTX3 0 genome.wustl.edu 37 12 58001201 58001201 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 58001201 58001201 C T SNP DTX3 ENST00000551632 human ensembl 74_37 +1 known silent c.564 p.C188 0.917 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 25 0 0 31 7 18.4211 NCAPD2 0 genome.wustl.edu 37 12 6619795 6619795 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 6619795 6619795 T C SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.263 p.V88A 1.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 77 0 0 55 11 16.6667 ZFC3H1 0 genome.wustl.edu 37 12 72026034 72026034 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 72026034 72026034 A C SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known silent c.3078 p.T1026 0.999 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 167 0 0 94 16 14.5455 CD163L1 0 genome.wustl.edu 37 12 7526069 7526069 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 7526069 7526069 T C SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.3577 p.S1193G 0.012 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 141 0 0 131 35 21.0843 NECAP1 0 genome.wustl.edu 37 12 8245509 8245509 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 8245509 8245509 T C SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known silent c.534 p.T178 0.297 NULL pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 178 0 0 170 37 17.8744 CCDC59 0 genome.wustl.edu 37 12 82750907 82750907 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 82750907 82750907 G A SNP CCDC59 ENST00000256151 human ensembl 74_37 -1 known missense c.296 p.A99V 1.000 prints_rRNA_processing pfam_rRNA_processing,prints_rRNA_processing - no_errors CCDC59 HGNC ENSG00000133773 130 0 0 114 30 20.8333 DCN 0 genome.wustl.edu 37 12 91546948 91546948 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 91546948 91546948 G A SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.671 p.T224M 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 66 0 0 49 9 15.5172 PLXNC1 0 genome.wustl.edu 37 12 94563012 94563012 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 94563012 94563012 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.1146 p.T382 0.981 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 77 0 0 58 13 18.3099 WNK1 0 genome.wustl.edu 37 12 977715 977715 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 977715 977715 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.3078 p.K1026 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 21 0 0 25 6 19.3548 TPP2 0 genome.wustl.edu 37 13 103288709 103288709 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 103288709 103288709 G A SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.1645 p.V549I 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 46 0 0 33 16 32.6531 BIVM 0 genome.wustl.edu 37 13 103459756 103459756 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 103459756 103459756 C T SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.139 p.P47S 0.389 NULL NULL - no_errors BIVM HGNC ENSG00000134897 58 0 0 59 8 11.9403 CARS2 0 genome.wustl.edu 37 13 111303398 111303398 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 111303398 111303398 C T SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.1037 p.R346Q 0.942 pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 79 0 0 97 17 14.9123 MCF2L 0 genome.wustl.edu 37 13 113742894 113742894 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 113742894 113742894 C T SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.2957 p.A986V 0.121 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 16 0 0 15 7 31.8182 PROZ 0 genome.wustl.edu 37 13 113812986 113812986 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 113812986 113812986 C T SNP PROZ ENST00000375547 human ensembl 74_37 +1 known silent c.12 p.C4 0.004 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 12 0 0 13 8 38.0952 GAS6 0 genome.wustl.edu 37 13 114535732 114535732 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 114535732 114535732 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.957 p.P319 0.015 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 67 0 0 94 14 12.963 CHAMP1 0 genome.wustl.edu 37 13 115090019 115090019 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 115090019 115090019 G A SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known silent c.702 p.P234 0.368 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 145 0 0 120 49 28.9941 XPO4 0 genome.wustl.edu 37 13 21417071 21417071 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 21417071 21417071 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known silent c.690 p.A230 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 46 0 0 24 7 22.5806 PAN3 0 genome.wustl.edu 37 13 28866563 28866563 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 28866563 28866563 T C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known silent c.2568 p.D856 0.954 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 55 0 0 50 25 33.3333 MTUS2 0 genome.wustl.edu 37 13 29600668 29600668 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 29600668 29600668 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.1863 p.S621 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 27 0 0 36 8 18.1818 EEF1DP3 0 genome.wustl.edu 37 13 32526924 32526924 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 32526924 32526924 G A SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors EEF1DP3 HGNC ENSG00000229715 12 0 0 16 4 20 STARD13 0 genome.wustl.edu 37 13 33701564 33701564 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 33701564 33701564 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.1868 p.R623H 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 25 0 0 28 8 22.2222 POSTN 0 genome.wustl.edu 37 13 38164611 38164611 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 38164611 38164611 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.339 p.T113 0.011 pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 31 0 0 30 9 23.0769 TRPC4 0 genome.wustl.edu 37 13 38357396 38357396 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 38357396 38357396 T C SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.75 p.A25 0.995 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 134 0 0 88 40 31.25 SPERT 0 genome.wustl.edu 37 13 46287396 46287396 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 46287396 46287396 G A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.236 p.R79Q 0.635 NULL NULL - no_errors SPERT HGNC ENSG00000174015 63 0 0 96 12 11.1111 ZC3H13 0 genome.wustl.edu 37 13 46542002 46542002 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 46542002 46542002 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.3958 p.Q1320* 0.997 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 70 0 0 68 22 24.4444 ATP7B 0 genome.wustl.edu 37 13 52518300 52518300 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 52518300 52518300 G A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.3188 p.A1063V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 51 0 0 47 19 28.7879 HNRNPA1L2 0 genome.wustl.edu 37 13 53216744 53216744 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 53216744 53216744 G A SNP HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known silent c.117 p.T39 0.976 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 62 0 0 48 7 12.7273 PCDH17 0 genome.wustl.edu 37 13 58299326 58299326 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 58299326 58299326 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3378 p.R1126S 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 242 0 0 205 51 19.9219 TBC1D4 0 genome.wustl.edu 37 13 76055811 76055811 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 76055811 76055811 T C SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.93 p.P31 0.263 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,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 TBC1D4 HGNC ENSG00000136111 24 0 0 16 11 40.7407 SLITRK6 0 genome.wustl.edu 37 13 86368486 86368486 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 86368486 86368486 T G SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2158 p.S720R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 249 0 0 261 15 5.43478 SLITRK5 0 genome.wustl.edu 37 13 88330473 88330473 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 88330473 88330473 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2830 p.D944N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 126 0 0 120 41 25.4658 SOX21 0 genome.wustl.edu 37 13 95364182 95364182 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 95364182 95364182 C T SNP SOX21 ENST00000376945 human ensembl 74_37 -1 known missense c.122 p.R41H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_Antifreeze_1 - no_errors SOX21 HGNC ENSG00000125285 82 0 0 123 18 12.766 CLDN10 0 genome.wustl.edu 37 13 96205057 96205057 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 96205057 96205057 G T SNP CLDN10 ENST00000299339 human ensembl 74_37 +1 known missense c.50 p.G17V 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin - no_errors CLDN10 HGNC ENSG00000134873 44 0 0 50 8 13.7931 FARP1 0 genome.wustl.edu 37 13 99093014 99093014 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 99093014 99093014 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2813 p.R938H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 36 0 0 38 5 11.6279 CYP46A1 0 genome.wustl.edu 37 14 100191749 100191749 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 100191749 100191749 C T SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.1198 p.R400W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 72 0 0 70 10 12.5 EML1 0 genome.wustl.edu 37 14 100377791 100377791 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 100377791 100377791 G A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1429 p.A477T 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 98 0 0 79 16 16.8421 CEP170B 0 genome.wustl.edu 37 14 105353081 105353081 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 105353081 105353081 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.2508 p.G836 0.007 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 46 0 0 52 8 13.3333 AHNAK2 0 genome.wustl.edu 37 14 105409804 105409804 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 105409804 105409804 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11984 p.A3995V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 293 0 0 304 49 13.881 OR5AU1 0 genome.wustl.edu 37 14 21623694 21623694 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 21623694 21623694 T C SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known missense c.491 p.Y164C 0.924 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 49 0 0 33 8 19.5122 MYH7 0 genome.wustl.edu 37 14 23886806 23886806 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 23886806 23886806 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4259 p.R1420L 1.000 pfam_Myosin_tail,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 129 0 0 117 27 18.75 NGDN 0 genome.wustl.edu 37 14 23945486 23945486 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 23945486 23945486 C T SNP NGDN ENST00000408901 human ensembl 74_37 +1 known nonsense c.583 p.R195* 1.000 NULL pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 65 0 0 50 16 24.2424 IPO4 0 genome.wustl.edu 37 14 24656743 24656743 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 24656743 24656743 C T SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.451 p.E151K 0.770 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 119 0 0 110 23 17.2932 PRKD1 0 genome.wustl.edu 37 14 30047479 30047479 + Splice_Site SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 30047479 30047479 A G SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known splice_site c.2520+2 e17+2 1.000 - - - no_errors PRKD1 HGNC ENSG00000184304 28 0 0 14 4 22.2222 HECTD1 0 genome.wustl.edu 37 14 31592134 31592134 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 31592134 31592134 A G SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.5101 p.Y1701H 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 131 0 0 114 13 10.2362 HECTD1 0 genome.wustl.edu 37 14 31619373 31619373 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 31619373 31619373 A G SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.1987 p.W663R 1.000 superfamily_ARM-type_fold pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 177 0 0 131 33 20.122 HEATR5A 0 genome.wustl.edu 37 14 31856542 31856542 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 31856542 31856542 G A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known silent c.955 p.L319 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 28 0 0 36 9 20 INSM2 0 genome.wustl.edu 37 14 36004422 36004422 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 36004422 36004422 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.964 p.A322T 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 46 0 0 56 11 16.4179 TRIM9 0 genome.wustl.edu 37 14 51561212 51561212 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 51561212 51561212 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.446 p.R149H 1.000 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 21 0 0 32 6 15.7895 SAMD4A 0 genome.wustl.edu 37 14 55203855 55203855 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 55203855 55203855 C T SNP SAMD4A ENST00000392067 human ensembl 74_37 +1 known nonsense c.829 p.R277* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 283 0 0 248 55 18.1518 SLC35F4 0 genome.wustl.edu 37 14 58038711 58038711 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 58038711 58038711 G A SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known silent c.942 p.T314 0.001 pfam_DMT,pfam_SLC35_F1/F2/F6 pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 24 0 0 11 4 26.6667 PCNXL4 0 genome.wustl.edu 37 14 60585059 60585059 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 60585059 60585059 C T SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.1591 p.R531C 0.952 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 14 0 0 15 6 28.5714 KCNH5 0 genome.wustl.edu 37 14 63269210 63269210 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 63269210 63269210 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.1659 p.L553 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 78 0 0 85 11 11.4583 ESR2 0 genome.wustl.edu 37 14 64749567 64749567 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 64749567 64749567 A G SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.137 p.M46T 0.984 pfam_Estrogen_rcpt_beta_N pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 89 0 0 91 15 14.1509 SRSF5 0 genome.wustl.edu 37 14 70237232 70237232 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 70237232 70237232 G A SNP SRSF5 ENST00000394366 human ensembl 74_37 +1 novel missense c.415 p.A139T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 62 0 0 34 10 22.7273 ADAM20 0 genome.wustl.edu 37 14 70990808 70990808 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 70990808 70990808 A G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.817 p.S273P 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 ADAM20 HGNC ENSG00000134007 40 0 0 24 4 14.2857 DCAF4 0 genome.wustl.edu 37 14 73422258 73422258 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 73422258 73422258 T C SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.1033 p.S345P 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 DCAF4 HGNC ENSG00000119599 189 0 0 171 24 12.3077 PAPLN 0 genome.wustl.edu 37 14 73721644 73721644 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 73721644 73721644 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.1545 p.P515 0.015 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 44 0 0 46 11 19.2982 YLPM1 0 genome.wustl.edu 37 14 75265236 75265236 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 75265236 75265236 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.3236 p.R1079Q 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 83 0 0 70 15 17.6471 TMED10 0 genome.wustl.edu 37 14 75614415 75614415 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 75614415 75614415 G A SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known silent c.363 p.L121 1.000 pfam_GOLD,pfscan_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 192 0 0 170 40 19.0476 IFT43 0 genome.wustl.edu 37 14 76548754 76548754 + RNA SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 76548754 76548754 A T SNP IFT43 ENST00000553438 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors IFT43 HGNC ENSG00000119650 103 0 0 63 23 26.7442 PSMC1 0 genome.wustl.edu 37 14 90734679 90734679 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 90734679 90734679 G A SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.803 p.R268Q 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 68 0 0 58 7 10.7692 TTC7B 0 genome.wustl.edu 37 14 91196513 91196513 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 91196513 91196513 T C SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.604 p.S202G 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 92 0 0 62 18 22.5 CCDC88C 0 genome.wustl.edu 37 14 91744409 91744409 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 91744409 91744409 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4915 p.G1639R 0.513 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 19 0 0 21 2 8.69565 ITPK1 0 genome.wustl.edu 37 14 93412766 93412766 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 93412766 93412766 G A SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known nonsense c.811 p.Q271* 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 95 0 0 107 13 10.8333 CLMN 0 genome.wustl.edu 37 14 95786068 95786068 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 95786068 95786068 A G SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.62 p.I21T 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 16 0 0 28 5 15.1515 BDKRB1 0 genome.wustl.edu 37 14 96730468 96730468 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 96730468 96730468 G A SNP BDKRB1 ENST00000216629 human ensembl 74_37 +1 known missense c.449 p.R150Q 0.024 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 82 0 0 115 29 20.1389 BCL11B 0 genome.wustl.edu 37 14 99641328 99641328 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 99641328 99641328 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.1845 p.A615 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 30 0 0 40 15 27.2727 DNM1P47 0 genome.wustl.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 102294715 102294715 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 12 0 0 13 7 35 SNHG14 0 genome.wustl.edu 37 15 25444530 25444530 + RNA SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 25444530 25444530 T C SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SNHG14 HGNC ENSG00000224078 111 0 0 109 8 6.83761 SPTBN5 0 genome.wustl.edu 37 15 42180139 42180139 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 42180139 42180139 T C SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.646 p.I216V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 14 0 0 21 3 12.5 PDIA3 0 genome.wustl.edu 37 15 44058951 44058951 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 44058951 44058951 C A SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.871 p.L291M 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 24 0 0 27 7 20.5882 FRMD5 0 genome.wustl.edu 37 15 44175999 44175999 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 44175999 44175999 A G SNP FRMD5 ENST00000417257 human ensembl 74_37 -1 known missense c.1037 p.M346T 1.000 pfam_FERM-adjacent pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD5 HGNC ENSG00000171877 90 0 0 91 11 10.7843 FBN1 0 genome.wustl.edu 37 15 48703398 48703398 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 48703398 48703398 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8405 p.G2802D 1.000 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 107 0 0 69 18 20.6897 SHC4 0 genome.wustl.edu 37 15 49254719 49254719 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 49254719 49254719 A C SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.494 p.L165R 0.088 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 SHC4 HGNC ENSG00000185634 49 0 0 66 9 12 MYO5A 0 genome.wustl.edu 37 15 52668649 52668649 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 52668649 52668649 C T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2315 p.R772Q 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,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 MYO5A HGNC ENSG00000197535 47 0 0 42 7 14.2857 ZNF280D 0 genome.wustl.edu 37 15 56968927 56968927 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 56968927 56968927 A C SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.1351 p.F451V 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 74 0 0 48 9 15.7895 TLN2 0 genome.wustl.edu 37 15 63029211 63029211 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 63029211 63029211 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.3493 p.A1165T 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 46 0 0 48 18 27.2727 SPG21 0 genome.wustl.edu 37 15 65273318 65273318 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 65273318 65273318 C T SNP SPG21 ENST00000204566 human ensembl 74_37 -1 known missense c.109 p.A37T 1.000 NULL pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 69 0 0 58 16 21.6216 MEGF11 0 genome.wustl.edu 37 15 66262946 66262946 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 66262946 66262946 G A SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known nonsense c.844 p.Q282* 1.000 pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 27 0 0 35 9 20.4545 LCTL 0 genome.wustl.edu 37 15 66850103 66850103 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 66850103 66850103 G T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known silent c.879 p.P293 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 154 0 0 147 10 6.36943 HCN4 0 genome.wustl.edu 37 15 73622033 73622033 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 73622033 73622033 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.1471 p.D491N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 80 0 0 90 18 16.6667 SCAMP2 0 genome.wustl.edu 37 15 75141038 75141038 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 75141038 75141038 C T SNP SCAMP2 ENST00000268099 human ensembl 74_37 -1 known missense c.637 p.D213N 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 31 0 0 26 5 16.129 PSMA4 0 genome.wustl.edu 37 15 78837238 78837238 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 78837238 78837238 A G SNP PSMA4 ENST00000044462 human ensembl 74_37 +1 known missense c.315 p.I105M 0.973 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 56 0 0 27 10 27.027 CHRNA3 0 genome.wustl.edu 37 15 78888987 78888987 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 78888987 78888987 C A SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known nonsense c.1477 p.G493* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC ENSG00000080644 45 0 0 48 9 15.7895 TMC3 0 genome.wustl.edu 37 15 81648919 81648919 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 81648919 81648919 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.760 p.R254C 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 10 0 0 11 4 26.6667 MEX3B 0 genome.wustl.edu 37 15 82336301 82336301 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 82336301 82336301 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.910 p.G304R 0.997 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 81 0 0 93 17 15.4545 AKAP13 0 genome.wustl.edu 37 15 86124026 86124026 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 86124026 86124026 T C SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.2727 p.T909 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 71 0 0 67 10 12.987 RLBP1 0 genome.wustl.edu 37 15 89758344 89758344 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 89758344 89758344 C T SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known missense c.472 p.V158I 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom - no_errors RLBP1 HGNC ENSG00000140522 126 0 0 98 11 10.0917 TICRR 0 genome.wustl.edu 37 15 90118931 90118931 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 90118931 90118931 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.114 p.F38 0.766 NULL NULL - no_errors TICRR HGNC ENSG00000140534 18 0 0 12 3 20 MAN2A2 0 genome.wustl.edu 37 15 91452612 91452612 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 91452612 91452612 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.1252 p.V418I 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl 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 MAN2A2 HGNC ENSG00000196547 53 0 0 54 10 15.625 SV2B 0 genome.wustl.edu 37 15 91769857 91769857 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 91769857 91769857 G A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.364 p.D122N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 61 0 0 50 5 9.09091 RHBDF1 0 genome.wustl.edu 37 16 114974 114974 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 114974 114974 G A SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.40 p.R14C 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 64 0 0 86 26 23.2143 MKL2 0 genome.wustl.edu 37 16 14355230 14355230 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 14355230 14355230 A G SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.3196 p.S1066G 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 77 0 0 71 11 13.4146 NOMO3 0 genome.wustl.edu 37 16 16349609 16349609 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 16349609 16349609 C T SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known silent c.996 p.T332 0.387 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 68 0 0 62 9 12.6761 TMC5 0 genome.wustl.edu 37 16 19451390 19451390 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 19451390 19451390 T C SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known silent c.30 p.S10 0.002 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 91 0 0 62 19 23.4568 DNAH3 0 genome.wustl.edu 37 16 20976519 20976519 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 20976519 20976519 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8687 p.R2896H 0.980 superfamily_Prefoldin 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 148 0 0 162 34 17.3469 ZP2 0 genome.wustl.edu 37 16 21210127 21210127 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 21210127 21210127 G T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.1984 p.L662M 0.607 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 38 0 0 32 6 15.7895 PKD1 0 genome.wustl.edu 37 16 2139989 2139989 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 2139989 2139989 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.12651 p.A4217 0.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 22 0 0 30 6 16.6667 HS3ST2 0 genome.wustl.edu 37 16 22926525 22926525 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 22926525 22926525 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.746 p.R249H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 141 0 0 164 23 12.2995 USP31 0 genome.wustl.edu 37 16 23091458 23091458 + Missense_Mutation SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 23091458 23091458 A T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.1985 p.V662D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 76 0 0 89 17 16.0377 CCNF 0 genome.wustl.edu 37 16 2505427 2505427 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 2505427 2505427 G T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.1747 p.G583C 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 31 0 0 31 5 13.8889 LCMT1 0 genome.wustl.edu 37 16 25137305 25137305 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 25137305 25137305 G A SNP LCMT1 ENST00000380962 human ensembl 74_37 +1 known missense c.134 p.R45Q 0.000 NULL NULL - no_errors LCMT1 HGNC ENSG00000205629 15 0 0 14 4 22.2222 AQP8 0 genome.wustl.edu 37 16 25228664 25228664 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 25228664 25228664 G T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.158 p.C53F 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 226 0 0 238 25 9.5057 TUFM 0 genome.wustl.edu 37 16 28855345 28855345 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 28855345 28855345 G A SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.1000 p.R334W 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 60 0 0 60 8 11.7647 SEPHS2 0 genome.wustl.edu 37 16 30455823 30455823 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30455823 30455823 T C SNP SEPHS2 ENST00000542752 human ensembl 74_37 -1 known missense c.1055 p.K352R 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 64 0 0 66 19 22.3529 ITGAL 0 genome.wustl.edu 37 16 30521775 30521775 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30521775 30521775 T G SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.2602 p.F868V 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 102 0 0 75 10 11.7647 PRR14 0 genome.wustl.edu 37 16 30666359 30666359 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30666359 30666359 A G SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known silent c.1068 p.R356 0.166 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 61 0 0 75 23 23.4694 PRR14 0 genome.wustl.edu 37 16 30666362 30666362 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30666362 30666362 A G SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known silent c.1071 p.P357 0.117 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 66 0 0 78 22 22 PRR14 0 genome.wustl.edu 37 16 30666716 30666716 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30666716 30666716 A G SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.1289 p.Q430R 0.996 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 92 0 0 69 12 14.8148 STX1B 0 genome.wustl.edu 37 16 31004445 31004445 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 31004445 31004445 G A SNP STX1B ENST00000565419 human ensembl 74_37 -1 putative silent c.792 p.S264 0.814 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 74 0 0 96 21 17.9487 FUS 0 genome.wustl.edu 37 16 31196405 31196405 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 31196405 31196405 C T SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.669 p.G223 0.710 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 13 0 0 16 5 23.8095 CREBBP 0 genome.wustl.edu 37 16 3778452 3778452 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 3778452 3778452 T A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.6596 p.Q2199L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 30 0 0 50 5 9.09091 C16orf78 0 genome.wustl.edu 37 16 49412460 49412460 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 49412460 49412460 G A SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.350 p.S117N 0.052 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 20 0 0 21 3 12.5 GPR114 0 genome.wustl.edu 37 16 57598979 57598979 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 57598979 57598979 G A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.463 p.V155I 0.079 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 123 0 0 101 22 17.8862 GPR56 0 genome.wustl.edu 37 16 57693479 57693479 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 57693479 57693479 C A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1459 p.L487I 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 101 0 0 114 17 12.9771 CNOT1 0 genome.wustl.edu 37 16 58576171 58576171 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 58576171 58576171 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.4644 p.Y1548 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 90 0 0 56 11 16.4179 CDH11 0 genome.wustl.edu 37 16 65006930 65006930 + Missense_Mutation SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 65006930 65006930 G C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1267 p.R423G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 55 0 0 35 7 16.6667 PDP2 0 genome.wustl.edu 37 16 66919107 66919107 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 66919107 66919107 G A SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known missense c.920 p.R307H 0.000 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 PDP2 HGNC ENSG00000172840 60 0 0 48 22 31.4286 HSF4 0 genome.wustl.edu 37 16 67200243 67200243 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 67200243 67200243 G A SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.506 p.R169Q 0.995 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 18 0 0 17 5 22.7273 EXOC3L1 0 genome.wustl.edu 37 16 67219046 67219046 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 67219046 67219046 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.1742 p.T581M 0.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 101 0 0 90 29 24.3697 CENPT 0 genome.wustl.edu 37 16 67862748 67862748 + Splice_Site SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 67862748 67862748 T G SNP CENPT ENST00000219172 human ensembl 74_37 -1 known splice_site c.1281-2 e11-2 0.866 - - - no_errors CENPT HGNC ENSG00000102901 76 0 0 87 10 10.3093 COG8 0 genome.wustl.edu 37 16 69369001 69369001 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 69369001 69369001 C T SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.836 p.R279H 1.000 pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 46 0 0 39 9 18.75 NFAT5 0 genome.wustl.edu 37 16 69660352 69660352 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 69660352 69660352 T C SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.174 p.S58 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 69 0 0 34 11 24.4444 WWP2 0 genome.wustl.edu 37 16 69942710 69942710 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 69942710 69942710 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.961 p.H321Y 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 93 0 0 95 21 18.1034 CLEC18A 0 genome.wustl.edu 37 16 69988310 69988310 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 69988310 69988310 C T SNP CLEC18A ENST00000449317 human ensembl 74_37 +1 known missense c.290 p.A97V 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18A HGNC ENSG00000157322 64 0 0 69 8 10.3896 PDPR 0 genome.wustl.edu 37 16 70176194 70176194 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 70176194 70176194 G A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.1373 p.R458H 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 87 0 0 83 7 7.77778 MARVELD3 0 genome.wustl.edu 37 16 71668202 71668202 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 71668202 71668202 C T SNP MARVELD3 ENST00000567501 human ensembl 74_37 +1 putative missense c.142 p.H48Y 0.996 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 141 0 0 139 27 16.2651 ZFHX3 0 genome.wustl.edu 37 16 72827613 72827613 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 72827613 72827613 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.8968 p.V2990I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 124 0 0 96 24 20 GLG1 0 genome.wustl.edu 37 16 74525092 74525092 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 74525092 74525092 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1256 p.C419Y 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 135 0 0 108 19 14.9606 ADAMTS18 0 genome.wustl.edu 37 16 77317937 77317937 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 77317937 77317937 C A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3582 p.W1194C 1.000 pfam_PLAC,pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS18 HGNC ENSG00000140873 102 0 0 61 14 18.6667 HAGHL 0 genome.wustl.edu 37 16 784510 784510 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 784510 784510 C T SNP HAGHL ENST00000569604 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC ENSG00000103253 10 0 0 11 4 26.6667 MSLN 0 genome.wustl.edu 37 16 815589 815589 + Missense_Mutation SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 815589 815589 G C SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.767 p.G256A 0.007 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 45 0 0 41 8 16.3265 PLCG2 0 genome.wustl.edu 37 16 81969978 81969978 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 81969978 81969978 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.3047 p.T1016M 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 54 0 0 49 4 7.54717 CPNE7 0 genome.wustl.edu 37 16 89653121 89653121 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 89653121 89653121 G A SNP CPNE7 ENST00000268720 human ensembl 74_37 +1 known missense c.1049 p.R350H 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 84 0 0 75 4 5.06329 DNAH9 0 genome.wustl.edu 37 17 11650994 11650994 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 11650994 11650994 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6521 p.R2174H 0.814 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH9 HGNC ENSG00000007174 86 0 0 80 21 20.7921 MYO1C 0 genome.wustl.edu 37 17 1386933 1386933 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 1386933 1386933 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known silent c.318 p.G106 0.066 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 17 0 0 13 4 23.5294 SCARF1 0 genome.wustl.edu 37 17 1548908 1548908 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 1548908 1548908 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.84 p.H28 0.956 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 27 0 0 19 8 29.6296 TRIM16 0 genome.wustl.edu 37 17 15534998 15534998 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 15534998 15534998 G A SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.1046 p.A349V 0.946 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 58 0 0 58 8 12.1212 MIEF2 0 genome.wustl.edu 37 17 18166044 18166044 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 18166044 18166044 T C SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known missense c.10 p.F4L 0.995 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 28 0 0 30 10 25 MAPK7 0 genome.wustl.edu 37 17 19286450 19286450 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 19286450 19286450 G A SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.2357 p.G786D 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 MAPK7 HGNC ENSG00000166484 85 0 0 79 18 18.5567 TSR1 0 genome.wustl.edu 37 17 2234242 2234242 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 2234242 2234242 T C SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.1658 p.E553G 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 52 0 0 39 13 25 KIAA0100 0 genome.wustl.edu 37 17 26958685 26958685 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 26958685 26958685 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4111 p.R1371W 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 37 0 0 36 7 16.2791 SUPT6H 0 genome.wustl.edu 37 17 27000493 27000493 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 27000493 27000493 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.74 p.R25Q 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 39 0 0 34 4 10.5263 FAM222B 0 genome.wustl.edu 37 17 27086626 27086626 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 27086626 27086626 G A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known silent c.351 p.D117 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 29 0 0 19 3 13.6364 SSH2 0 genome.wustl.edu 37 17 27957928 27957928 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 27957928 27957928 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.4203 p.H1401 0.990 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 172 0 0 144 47 24.6073 NF1 0 genome.wustl.edu 37 17 29576057 29576057 + Nonsense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 29576057 29576057 G T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.4030 p.E1344* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 123 0 0 76 17 18.2796 OR1D5 0 genome.wustl.edu 37 17 2966348 2966348 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 2966348 2966348 A C SNP OR1D5 ENST00000575751 human ensembl 74_37 -1 known missense c.554 p.L185R 0.637 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC ENSG00000262628 49 0 0 51 5 8.92857 ENSG00000263369 0 genome.wustl.edu 37 17 30433437 30433437 + RNA SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 30433437 30433437 T C SNP ENSG00000263369 ENST00000580412 human ensembl 74_37 -1 known rna NULL NULL 0.754 - - - no_errors RP11-640N20.9 Clone_based_vega_gene ENSG00000263369 42 0 0 22 9 29.0323 MYO1D 0 genome.wustl.edu 37 17 30821885 30821885 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 30821885 30821885 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known silent c.2913 p.S971 1.000 pfam_Myosin_tail_2 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 MYO1D HGNC ENSG00000176658 48 0 0 38 8 17.3913 TBC1D3 0 genome.wustl.edu 37 17 36339597 36339597 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 36339597 36339597 G T SNP TBC1D3 ENST00000354664 human ensembl 74_37 -1 known missense c.1060 p.Q354K 0.880 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3 HGNC ENSG00000197681 8 0 0 6 4 40 PSMD3 0 genome.wustl.edu 37 17 38151523 38151523 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 38151523 38151523 G A SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known silent c.1191 p.R397 0.434 pfam_PCI_dom,smart_PCI_dom pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 173 0 0 153 28 15.4696 KRT23 0 genome.wustl.edu 37 17 39092549 39092549 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 39092549 39092549 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.307 p.R103C 0.009 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 126 0 0 112 23 17.037 KRT23 0 genome.wustl.edu 37 17 39092832 39092832 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 39092832 39092832 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known silent c.24 p.S8 0.992 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 44 0 0 75 10 11.7647 ATP6V0A1 0 genome.wustl.edu 37 17 40652943 40652943 + Splice_Site SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 40652943 40652943 T C SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known splice_site c.1917+2 e15+2 1.000 - - - no_errors ATP6V0A1 HGNC ENSG00000033627 119 0 0 80 21 20.7921 TUBG1 0 genome.wustl.edu 37 17 40766300 40766300 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 40766300 40766300 C T SNP TUBG1 ENST00000251413 human ensembl 74_37 +1 known missense c.866 p.T289M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_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_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC ENSG00000131462 74 0 0 77 18 18.9474 ETV4 0 genome.wustl.edu 37 17 41606988 41606988 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 41606988 41606988 G A SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1012 p.R338W 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 131 0 0 114 22 16.1765 MEOX1 0 genome.wustl.edu 37 17 41719304 41719304 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 41719304 41719304 A G SNP MEOX1 ENST00000318579 human ensembl 74_37 -1 known missense c.739 p.S247P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 135 0 0 129 15 10.4167 NAGS 0 genome.wustl.edu 37 17 42082082 42082082 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 42082082 42082082 G A SNP NAGS ENST00000293404 human ensembl 74_37 +1 known silent c.51 p.P17 0.000 pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 18 0 0 16 8 33.3333 ASB16-AS1 0 genome.wustl.edu 37 17 42254018 42254018 + RNA SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 42254018 42254018 G T SNP ASB16-AS1 ENST00000585457 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB16-AS1 HGNC ENSG00000267080 118 0 0 98 27 21.6 GPATCH8 0 genome.wustl.edu 37 17 42478563 42478563 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 42478563 42478563 T C SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.882 p.P294 0.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 188 0 0 135 25 15.625 KANSL1 0 genome.wustl.edu 37 17 44172020 44172020 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 44172020 44172020 A G SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.1337 p.V446A 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 137 1 0.724638 127 26 16.9935 WNT3 0 genome.wustl.edu 37 17 44847252 44847252 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 44847252 44847252 G A SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known missense c.485 p.A162V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 44 0 0 43 9 17.3077 RPRML 0 genome.wustl.edu 37 17 45056149 45056149 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 45056149 45056149 C T SNP RPRML ENST00000322329 human ensembl 74_37 -1 known silent c.225 p.V75 1.000 NULL NULL - no_errors RPRML HGNC ENSG00000179673 15 0 0 25 6 19.3548 KPNB1 0 genome.wustl.edu 37 17 45750473 45750473 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 45750473 45750473 C T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.1637 p.A546V 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 77 0 0 49 12 19.6721 ZMYND15 0 genome.wustl.edu 37 17 4647391 4647391 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 4647391 4647391 T C SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1484 p.V495A 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 17 0 0 4 5 55.5556 HOXB1 0 genome.wustl.edu 37 17 46608028 46608028 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 46608028 46608028 G A SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.239 p.A80V 0.013 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 90 0 0 96 25 20.6612 ANKRD40 0 genome.wustl.edu 37 17 48777241 48777241 + Missense_Mutation SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 48777241 48777241 A T SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.297 p.D99E 0.396 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 32 0 0 25 8 24.2424 CA10 0 genome.wustl.edu 37 17 49713241 49713241 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 49713241 49713241 T G SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.782 p.K261T 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 64 0 0 40 6 13.0435 MRPS23 0 genome.wustl.edu 37 17 55917278 55917278 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 55917278 55917278 C T SNP MRPS23 ENST00000313608 human ensembl 74_37 -1 known missense c.439 p.V147I 0.000 NULL pfam_Ribosomal_S23/S25_mit - no_errors MRPS23 HGNC ENSG00000181610 84 0 0 56 12 17.6471 LPO 0 genome.wustl.edu 37 17 56324919 56324919 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 56324919 56324919 G A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.245 p.R82H 0.685 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 94 0 0 83 11 11.7021 RNF43 0 genome.wustl.edu 37 17 56434721 56434721 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 56434721 56434721 T C SNP RNF43 ENST00000581868 human ensembl 74_37 -1 putative missense c.2035 p.T679A 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 25 0 0 24 3 11.1111 RPS6KB1 0 genome.wustl.edu 37 17 58024111 58024111 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 58024111 58024111 A G SNP RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known missense c.1540 p.I514V 1.000 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 85 0 0 79 13 14.1304 ENSG00000267207 0 genome.wustl.edu 37 17 59147479 59147479 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 59147479 59147479 C T SNP ENSG00000267207 ENST00000588604 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-264B14.1 Clone_based_vega_gene ENSG00000267207 111 0 0 91 13 12.5 ACE 0 genome.wustl.edu 37 17 61557711 61557711 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 61557711 61557711 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.669 p.T223 0.078 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 93 0 0 71 8 10.1266 MAP3K3 0 genome.wustl.edu 37 17 61712155 61712155 + Missense_Mutation SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 61712155 61712155 A T SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.213 p.K71N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP3K3 HGNC ENSG00000198909 109 0 0 73 18 19.7802 ERN1 0 genome.wustl.edu 37 17 62131738 62131738 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 62131738 62131738 C T SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known missense c.1825 p.A609T 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_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 18 0 0 15 5 25 CACNG1 0 genome.wustl.edu 37 17 65040929 65040929 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 65040929 65040929 C T SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known silent c.153 p.F51 0.660 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 54 0 0 57 11 16.1765 HELZ 0 genome.wustl.edu 37 17 65199438 65199438 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 65199438 65199438 G T SNP HELZ ENST00000358691 human ensembl 74_37 -1 known silent c.369 p.S123 0.999 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 100 1 0.990099 77 10 11.4943 PSMD12 0 genome.wustl.edu 37 17 65344745 65344745 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 65344745 65344745 C T SNP PSMD12 ENST00000356126 human ensembl 74_37 -1 known missense c.431 p.R144Q 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 68 0 0 60 7 10.4478 ABCA6 0 genome.wustl.edu 37 17 67099024 67099024 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 67099024 67099024 A C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.2826 p.T942 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 37 0 0 16 4 20 ABCA10 0 genome.wustl.edu 37 17 67183901 67183901 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 67183901 67183901 G T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.2251 p.L751I 0.988 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 80 0 0 70 17 19.5402 BCL6B 0 genome.wustl.edu 37 17 6930865 6930865 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 6930865 6930865 G A SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.1367 p.R456Q 1.000 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 BCL6B HGNC ENSG00000161940 63 0 0 72 20 21.7391 SDK2 0 genome.wustl.edu 37 17 71346827 71346827 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 71346827 71346827 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.5861 p.R1954Q 1.000 NULL 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 71 0 0 66 10 13.1579 PHF23 0 genome.wustl.edu 37 17 7140781 7140781 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7140781 7140781 G A SNP PHF23 ENST00000320316 human ensembl 74_37 -1 known missense c.82 p.R28W 0.447 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 152 0 0 74 17 18.6813 TMEM104 0 genome.wustl.edu 37 17 72781738 72781738 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 72781738 72781738 A G SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.163 p.M55V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 48 0 0 45 14 23.7288 TMEM104 0 genome.wustl.edu 37 17 72832492 72832492 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 72832492 72832492 G A SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.1157 p.R386H 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 148 0 0 131 28 17.6101 C17orf74 0 genome.wustl.edu 37 17 7329699 7329699 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7329699 7329699 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.389 p.R130H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 104 0 0 128 26 16.8831 TMEM102 0 genome.wustl.edu 37 17 7339811 7339811 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7339811 7339811 T C SNP TMEM102 ENST00000323206 human ensembl 74_37 +1 known silent c.513 p.R171 0.000 NULL NULL - no_errors TMEM102 HGNC ENSG00000181284 83 0 0 65 12 15.5844 GALR2 0 genome.wustl.edu 37 17 74072970 74072970 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 74072970 74072970 G A SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 35 0 0 40 7 14.8936 KDM6B 0 genome.wustl.edu 37 17 7756403 7756403 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7756403 7756403 C A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.4696 p.R1566S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 60 0 0 39 11 22 CCDC40 0 genome.wustl.edu 37 17 78059814 78059814 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 78059814 78059814 G T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2248 p.G750W 0.994 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 87 0 0 78 11 12.3596 CHD3 0 genome.wustl.edu 37 17 7813796 7813796 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7813796 7813796 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.5641 p.R1881C 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 97 0 0 92 13 12.381 SLC26A11 0 genome.wustl.edu 37 17 78210884 78210884 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 78210884 78210884 C A SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known silent c.894 p.S298 0.995 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 42 0 0 53 10 15.873 ENDOV 0 genome.wustl.edu 37 17 78395647 78395647 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 78395647 78395647 G A SNP ENDOV ENST00000518137 human ensembl 74_37 +1 known missense c.248 p.R83H 0.930 pfam_Endonuclease-V pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 14 0 0 16 5 23.8095 GUCY2D 0 genome.wustl.edu 37 17 7915595 7915595 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 7915595 7915595 A G SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.1883 p.Q628R 0.882 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 93 0 0 80 12 13.0435 ACTG1 0 genome.wustl.edu 37 17 79477815 79477815 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 79477815 79477815 G A SNP ACTG1 ENST00000331925 human ensembl 74_37 -1 known silent c.1029 p.G343 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG1 HGNC ENSG00000184009 132 0 0 112 25 18.2482 P4HB 0 genome.wustl.edu 37 17 79804412 79804412 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 79804412 79804412 G A SNP P4HB ENST00000331483 human ensembl 74_37 -1 known missense c.949 p.L317F 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 91 0 0 98 14 12.5 FASN 0 genome.wustl.edu 37 17 80045689 80045689 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 80045689 80045689 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.2915 p.P972L 0.001 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 51 0 0 37 10 21.2766 PER1 0 genome.wustl.edu 37 17 8047100 8047100 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 8047100 8047100 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known silent c.2556 p.A852 0.524 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 30 0 0 40 9 18.3673 ARHGEF15 0 genome.wustl.edu 37 17 8218518 8218518 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 8218518 8218518 C A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1183 p.L395M 0.951 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 25 0 0 40 9 18.3673 ARHGEF15 0 genome.wustl.edu 37 17 8221918 8221918 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 8221918 8221918 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1810 p.R604C 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 63 0 0 59 14 19.1781 RIOK3 0 genome.wustl.edu 37 18 21044006 21044006 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 21044006 21044006 G A SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known silent c.255 p.Q85 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 89 0 0 68 17 20 C18orf8 0 genome.wustl.edu 37 18 21095895 21095895 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 21095895 21095895 G A SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.484 p.E162K 1.000 superfamily_WD40_repeat_dom pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 118 0 0 97 18 15.6522 DSC2 0 genome.wustl.edu 37 18 28654723 28654723 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 28654723 28654723 C T SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.1814 p.G605D 0.947 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 31 0 0 34 6 15 ZSCAN30 0 genome.wustl.edu 37 18 32844198 32844198 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 32844198 32844198 T G SNP ZSCAN30 ENST00000333206 human ensembl 74_37 -1 known missense c.119 p.N40T 0.000 superfamily_Retrov_capsid_C 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 ZSCAN30 HGNC ENSG00000186814 54 0 0 63 8 11.2676 TGIF1 0 genome.wustl.edu 37 18 3452168 3452168 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 3452168 3452168 C T SNP TGIF1 ENST00000330513 human ensembl 74_37 +1 known missense c.191 p.P64L 0.000 NULL pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 62 0 0 91 20 18.018 SLC14A2 0 genome.wustl.edu 37 18 43204714 43204714 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 43204714 43204714 A G SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.85 p.S29G 0.101 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 111 0 0 85 17 16.6667 CXXC1 0 genome.wustl.edu 37 18 47810401 47810401 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 47810401 47810401 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1288 p.G430S 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 88 0 0 96 24 20 ENSG00000173213 0 genome.wustl.edu 37 18 48112 48112 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 48112 48112 C T SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.613 p.E205K 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_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 107 0 0 101 18 15.1261 ALPK2 0 genome.wustl.edu 37 18 56184321 56184321 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 56184321 56184321 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.5759 p.T1920M 1.000 superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,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 ALPK2 HGNC ENSG00000198796 98 0 0 81 18 18.1818 PHLPP1 0 genome.wustl.edu 37 18 60645706 60645706 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 60645706 60645706 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.4196 p.A1399V 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 14 0 0 25 5 16.6667 PARD6G 0 genome.wustl.edu 37 18 77917987 77917987 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 77917987 77917987 C T SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known silent c.798 p.S266 0.002 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 27 0 0 28 11 28.2051 ABCA7 0 genome.wustl.edu 37 19 1049320 1049320 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 1049320 1049320 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.2436 p.L812 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 121 0 0 110 22 16.6667 SLC44A2 0 genome.wustl.edu 37 19 10738649 10738649 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 10738649 10738649 G A SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.214 p.E72K 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 40 0 0 34 4 10.5263 KANK2 0 genome.wustl.edu 37 19 11303908 11303908 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 11303908 11303908 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.848 p.A283V 0.976 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 KANK2 HGNC ENSG00000197256 45 0 0 53 10 15.873 RGL3 0 genome.wustl.edu 37 19 11508131 11508131 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 11508131 11508131 C T SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1907 p.R636Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 71 0 0 85 18 17.4757 ZNF441 0 genome.wustl.edu 37 19 11891996 11891996 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 11891996 11891996 G A SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1357 p.G453R 1.000 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 ZNF441 HGNC ENSG00000197044 67 0 0 38 8 17.3913 ZNF563 0 genome.wustl.edu 37 19 12430297 12430297 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 12430297 12430297 C T SNP ZNF563 ENST00000293725 human ensembl 74_37 -1 known missense c.542 p.R181H 0.005 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 ZNF563 HGNC ENSG00000188868 128 0 0 95 24 20.1681 PRDX2 0 genome.wustl.edu 37 19 12911023 12911023 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 12911023 12911023 G A SNP PRDX2 ENST00000301522 human ensembl 74_37 -1 known silent c.348 p.G116 0.535 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 104 0 0 90 23 20.354 MAST1 0 genome.wustl.edu 37 19 12979551 12979551 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 12979551 12979551 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known silent c.2661 p.A887 0.040 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 150 0 0 164 12 6.81818 LPHN1 0 genome.wustl.edu 37 19 14270398 14270398 + Splice_Site SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 14270398 14270398 T G SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known splice_site c.1855-2 e10-2 1.000 - - - no_errors LPHN1 HGNC ENSG00000072071 80 0 0 76 10 11.6279 NWD1 0 genome.wustl.edu 37 19 16926067 16926067 + Missense_Mutation SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 16926067 16926067 A T SNP NWD1 ENST00000339803 human ensembl 74_37 +1 known missense c.4217 p.D1406V 0.753 NULL 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 59 0 0 56 5 8.19672 CPAMD8 0 genome.wustl.edu 37 19 17088319 17088319 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 17088319 17088319 G T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1758 p.D586E 0.408 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 49 0 0 43 3 6.52174 MYO9B 0 genome.wustl.edu 37 19 17213299 17213299 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 17213299 17213299 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.772 p.A258T 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 18 0 0 35 6 14.6341 UNC13A 0 genome.wustl.edu 37 19 17783305 17783305 + Splice_Site SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 17783305 17783305 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known splice_site c.417-1 e5-1 1.000 - - - no_errors UNC13A HGNC ENSG00000130477 43 0 0 35 7 16.6667 CCDC124 0 genome.wustl.edu 37 19 18047384 18047384 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 18047384 18047384 G A SNP CCDC124 ENST00000445755 human ensembl 74_37 +1 known missense c.155 p.R52H 1.000 NULL pfam_DUF1014,superfamily_HMG_box_dom - no_errors CCDC124 HGNC ENSG00000007080 15 0 0 12 3 20 KIAA1683 0 genome.wustl.edu 37 19 18378125 18378125 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 18378125 18378125 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.225 p.A75 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 81 0 0 99 26 20.8 KLHL26 0 genome.wustl.edu 37 19 18778628 18778628 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 18778628 18778628 G A SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.421 p.V141M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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 KLHL26 HGNC ENSG00000167487 63 0 0 90 11 10.8911 HAPLN4 0 genome.wustl.edu 37 19 19371714 19371714 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 19371714 19371714 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.392 p.R131H 0.996 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 76 0 0 84 8 8.69565 ZNF208 0 genome.wustl.edu 37 19 22154923 22154923 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 22154923 22154923 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2913 p.K971N 0.844 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 ZNF208 HGNC ENSG00000160321 26 0 0 19 5 20.8333 ZNF729 0 genome.wustl.edu 37 19 22499436 22499436 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 22499436 22499436 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3217 p.E1073K 1.000 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 ZNF729 HGNC ENSG00000196350 39 0 0 23 7 23.3333 ZNF99 0 genome.wustl.edu 37 19 22941044 22941044 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 22941044 22941044 T A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1394 p.K465M 0.011 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 ZNF99 HGNC ENSG00000213973 36 0 0 32 4 11.1111 SPPL2B 0 genome.wustl.edu 37 19 2353033 2353033 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 2353033 2353033 G A SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors SPPL2B HGNC ENSG00000005206 34 0 0 33 2 5.71429 ZNF536 0 genome.wustl.edu 37 19 30935211 30935211 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 30935211 30935211 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.742 p.V248I 0.623 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 16 0 0 20 5 20 CHST8 0 genome.wustl.edu 37 19 34263898 34263898 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 34263898 34263898 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.998 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 37 0 0 45 12 21.0526 MAG 0 genome.wustl.edu 37 19 35800998 35800998 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 35800998 35800998 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1453 p.R485C 0.994 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 58 0 0 86 6 6.52174 RBM42 0 genome.wustl.edu 37 19 36128361 36128361 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36128361 36128361 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.1348 p.R450C 0.966 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 68 0 0 86 15 14.8515 IGFLR1 0 genome.wustl.edu 37 19 36232025 36232025 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36232025 36232025 C T SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known silent c.57 p.P19 0.000 NULL superfamily_DEATH-like_dom - no_errors IGFLR1 HGNC ENSG00000126246 27 0 0 23 4 14.8148 ARHGAP33 0 genome.wustl.edu 37 19 36279053 36279053 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36279053 36279053 C A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.3586 p.R1196S 0.665 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 80 0 0 79 21 21 ALKBH6 0 genome.wustl.edu 37 19 36505089 36505089 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36505089 36505089 T C SNP ALKBH6 ENST00000378875 human ensembl 74_37 -1 known missense c.47 p.D16G 0.436 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH6 HGNC ENSG00000239382 75 0 0 88 6 6.38298 CLIP3 0 genome.wustl.edu 37 19 36510166 36510166 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36510166 36510166 C T SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.961 p.G321S 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 44 0 0 39 14 26.4151 GGN 0 genome.wustl.edu 37 19 38877092 38877092 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 38877092 38877092 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.810 p.G270 0.648 NULL NULL - no_errors GGN HGNC ENSG00000179168 45 0 0 48 14 22.5806 GGN 0 genome.wustl.edu 37 19 38877558 38877558 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 38877558 38877558 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.344 p.A115V 0.274 NULL NULL - no_errors GGN HGNC ENSG00000179168 8 0 0 11 5 31.25 RYR1 0 genome.wustl.edu 37 19 38949887 38949887 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 38949887 38949887 C A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2269 p.R757S 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 37 0 0 47 13 21.6667 RYR1 0 genome.wustl.edu 37 19 38990283 38990283 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 38990283 38990283 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7036 p.V2346M 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 46 0 0 32 8 20 IFNL2 0 genome.wustl.edu 37 19 39759369 39759369 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 39759369 39759369 C T SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known silent c.63 p.T21 0.001 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 75 0 0 55 6 9.83607 ZNF780A 0 genome.wustl.edu 37 19 40581804 40581804 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 40581804 40581804 T C SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.548 p.Q183R 0.065 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 ZNF780A HGNC ENSG00000197782 63 0 0 46 5 9.80392 AKT2 0 genome.wustl.edu 37 19 40741932 40741932 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 40741932 40741932 C T SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.1040 p.R347H 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 79 0 0 74 13 14.9425 SPTBN4 0 genome.wustl.edu 37 19 41071344 41071344 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 41071344 41071344 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.5931 p.V1977 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 SPTBN4 HGNC ENSG00000160460 83 0 0 81 7 7.95455 SNRPA 0 genome.wustl.edu 37 19 41265514 41265514 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 41265514 41265514 C T SNP SNRPA ENST00000243563 human ensembl 74_37 +1 known missense c.425 p.P142L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 22 0 0 34 16 32 CYP2A13 0 genome.wustl.edu 37 19 41596364 41596364 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 41596364 41596364 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known silent c.549 p.S183 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 128 0 0 130 23 15.0327 AXL 0 genome.wustl.edu 37 19 41726615 41726615 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 41726615 41726615 C A SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.160 p.L54I 0.985 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 AXL HGNC ENSG00000167601 30 0 0 21 7 25 EBI3 0 genome.wustl.edu 37 19 4233238 4233238 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 4233238 4233238 A G SNP EBI3 ENST00000221847 human ensembl 74_37 +1 known missense c.313 p.N105D 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EBI3 HGNC ENSG00000105246 59 0 0 71 4 5.33333 ZNF574 0 genome.wustl.edu 37 19 42584303 42584303 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 42584303 42584303 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.1815 p.R605 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 341 0 0 357 69 16.1972 PRR19 0 genome.wustl.edu 37 19 42814313 42814313 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 42814313 42814313 C T SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known missense c.577 p.R193W 0.277 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 74 0 0 64 18 21.9512 IRGQ 0 genome.wustl.edu 37 19 44099118 44099118 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 44099118 44099118 C T SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.373 p.A125T 0.002 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 52 0 0 48 10 17.2414 CHAF1A 0 genome.wustl.edu 37 19 4433428 4433428 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 4433428 4433428 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known silent c.2565 p.S855 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 62 0 0 107 13 10.8333 ZNF285 0 genome.wustl.edu 37 19 44891368 44891368 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 44891368 44891368 C T SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.1039 p.D347N 0.002 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 ZNF285 HGNC ENSG00000267508 79 0 0 56 13 18.8406 CLPTM1 0 genome.wustl.edu 37 19 45493811 45493811 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 45493811 45493811 C A SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known missense c.1291 p.L431I 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 130 0 0 124 23 15.6463 SEMA6B 0 genome.wustl.edu 37 19 4550161 4550161 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 4550161 4550161 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.1245 p.A415 0.683 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,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 45 0 0 47 7 12.963 NOVA2 0 genome.wustl.edu 37 19 46443245 46443245 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 46443245 46443245 G A SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.1355 p.T452M 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 NOVA2 HGNC ENSG00000104967 147 0 0 152 33 17.8378 ARHGAP35 0 genome.wustl.edu 37 19 47425372 47425372 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 47425372 47425372 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.3440 p.R1147H 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 55 0 0 44 9 16.9811 ARHGAP35 0 genome.wustl.edu 37 19 47492890 47492890 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 47492890 47492890 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.3994 p.L1332 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 150 0 0 150 23 13.2948 ARHGAP35 0 genome.wustl.edu 37 19 47492913 47492913 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 47492913 47492913 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.4017 p.I1339 0.012 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 161 0 0 145 33 18.5393 GLTSCR1 0 genome.wustl.edu 37 19 48198197 48198197 + Missense_Mutation SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 48198197 48198197 C G SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known missense c.2936 p.A979G 0.014 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 25 0 0 32 3 8.57143 KCNJ14 0 genome.wustl.edu 37 19 48967762 48967762 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 48967762 48967762 C T SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known missense c.1039 p.R347C 1.000 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 - no_errors KCNJ14 HGNC ENSG00000182324 49 0 0 43 7 14 SNORD35A 0 genome.wustl.edu 37 19 49994454 49994454 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 49994454 49994454 C T SNP SNORD35A ENST00000363389 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD35A HGNC ENSG00000200259 130 1 0.763359 114 19 14.2857 EMC10 0 genome.wustl.edu 37 19 50985148 50985148 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 50985148 50985148 C T SNP EMC10 ENST00000376918 human ensembl 74_37 +1 known missense c.709 p.L237F 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 18 0 0 14 5 26.3158 EMC10 0 genome.wustl.edu 37 19 50985202 50985202 + Nonstop_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 50985202 50985202 T C SNP EMC10 ENST00000376918 human ensembl 74_37 +1 known nonstop c.763 p.*255R 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 20 0 0 21 9 30 SIGLEC8 0 genome.wustl.edu 37 19 51955752 51955752 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 51955752 51955752 G A SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known nonsense c.1381 p.Q461* 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 99 0 0 73 22 23.1579 ZNF534 0 genome.wustl.edu 37 19 52941489 52941489 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 52941489 52941489 A G SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.815 p.Q272R 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 ZNF534 HGNC ENSG00000198633 48 0 0 22 5 18.5185 ZNF765 0 genome.wustl.edu 37 19 53911570 53911570 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 53911570 53911570 G A SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known silent c.762 p.S254 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 ZNF765 HGNC ENSG00000196417 85 0 0 68 6 8.10811 CACNG8 0 genome.wustl.edu 37 19 54483177 54483177 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 54483177 54483177 G A SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known missense c.424 p.G142R 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 30 0 0 30 6 16.6667 OSCAR 0 genome.wustl.edu 37 19 54600440 54600440 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 54600440 54600440 A G SNP OSCAR ENST00000356532 human ensembl 74_37 -1 known missense c.94 p.S32P 0.792 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 79 0 0 60 16 21.0526 LILRB5 0 genome.wustl.edu 37 19 54760025 54760025 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 54760025 54760025 A G SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.509 p.L170P 0.737 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 71 0 0 80 13 13.9785 BRSK1 0 genome.wustl.edu 37 19 55814186 55814186 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 55814186 55814186 G T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.1027 p.G343C 1.000 pfscan_UBA/transl_elong_EF1B_N_euk 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 77 0 0 75 14 15.7303 ZNF587 0 genome.wustl.edu 37 19 58367595 58367595 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 58367595 58367595 T A SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.157 p.S53T 0.276 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 ZNF587 HGNC ENSG00000198466 90 0 0 52 19 26.7606 ZNF606 0 genome.wustl.edu 37 19 58491210 58491210 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 58491210 58491210 C T SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.838 p.A280T 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 ZNF606 HGNC ENSG00000166704 100 0 0 56 8 12.5 ZSCAN18 0 genome.wustl.edu 37 19 58596660 58596660 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 58596660 58596660 G T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.1093 p.P365T 0.002 NULL pfam_Tscrpt_reg_SCAN,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 ZSCAN18 HGNC ENSG00000121413 26 0 0 39 5 11.3636 ZBTB45 0 genome.wustl.edu 37 19 59027859 59027859 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 59027859 59027859 G A SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.1182 p.R394 0.008 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 ZBTB45 HGNC ENSG00000119574 31 0 0 22 9 29.0323 POLRMT 0 genome.wustl.edu 37 19 618551 618551 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 618551 618551 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.3359 p.P1120L 0.995 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 30 0 0 36 10 21.7391 ARHGEF18 0 genome.wustl.edu 37 19 7528734 7528734 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 7528734 7528734 A G SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.2102 p.Q701R 0.063 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 15 0 0 11 10 47.619 FBN3 0 genome.wustl.edu 37 19 8161800 8161800 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 8161800 8161800 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5378 p.R1793Q 0.068 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 104 0 0 92 16 14.8148 FBN3 0 genome.wustl.edu 37 19 8176580 8176580 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 8176580 8176580 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.4036 p.R1346C 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 55 0 0 53 10 15.873 ANAPC1 0 genome.wustl.edu 37 2 112578910 112578910 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 112578910 112578910 G A SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known nonsense c.3112 p.R1038* 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 17 0 0 9 3 25 PQLC3 0 genome.wustl.edu 37 2 11312071 11312071 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 11312071 11312071 C T SNP PQLC3 ENST00000295083 human ensembl 74_37 +1 known silent c.375 p.S125 0.599 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC ENSG00000162976 96 0 0 70 16 18.6047 SLC35F5 0 genome.wustl.edu 37 2 114500441 114500441 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 114500441 114500441 C T SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.578 p.R193H 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 66 0 0 49 14 22.2222 TFCP2L1 0 genome.wustl.edu 37 2 122000030 122000030 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 122000030 122000030 G A SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known missense c.673 p.R225W 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 140 0 0 140 23 14.1104 TUBA3E 0 genome.wustl.edu 37 2 130949655 130949655 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 130949655 130949655 G A SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known silent c.1102 p.L368 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_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 - no_errors TUBA3E HGNC ENSG00000152086 86 0 0 60 17 22.0779 POTEJ 0 genome.wustl.edu 37 2 131414158 131414158 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 131414158 131414158 C T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.1825 p.H609Y 0.011 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 45 0 0 40 5 11.1111 CACNB4 0 genome.wustl.edu 37 2 152695680 152695680 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 152695680 152695680 G A SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known nonsense c.1516 p.R506* 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 41 0 0 21 8 27.5862 BAZ2B 0 genome.wustl.edu 37 2 160242867 160242867 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 160242867 160242867 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.3468 p.Y1156 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 59 0 0 40 9 18.3673 RBMS1 0 genome.wustl.edu 37 2 161159865 161159865 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 161159865 161159865 G A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.536 p.T179I 0.997 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 80 0 0 60 17 22.0779 FAP 0 genome.wustl.edu 37 2 163074649 163074649 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 163074649 163074649 C A SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.609 p.E203D 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 47 0 0 44 10 18.5185 CSRNP3 0 genome.wustl.edu 37 2 166536162 166536162 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 166536162 166536162 A G SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1657 p.I553V 0.929 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 127 0 0 96 24 20 HOXD11 0 genome.wustl.edu 37 2 176972292 176972292 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 176972292 176972292 G A SNP HOXD11 ENST00000249504 human ensembl 74_37 +1 known missense c.209 p.R70H 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 19 0 0 36 6 14.2857 TTN 0 genome.wustl.edu 37 2 179425103 179425103 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 179425103 179425103 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78052 p.I26018V 0.511 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 44 0 0 35 7 16.6667 TTN 0 genome.wustl.edu 37 2 179469726 179469726 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 179469726 179469726 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46474 p.V15492I 0.998 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 184 0 0 125 20 13.7931 TTN 0 genome.wustl.edu 37 2 179518602 179518602 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 179518602 179518602 G A SNP TTN ENST00000589042 human ensembl 74_37 -1 putative silent c.38487 p.A12829 0.001 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 55 0 0 48 6 11.1111 TTN 0 genome.wustl.edu 37 2 179542916 179542916 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 179542916 179542916 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.30198 p.K10066N 0.552 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 96 0 0 61 14 18.6667 TTN 0 genome.wustl.edu 37 2 179577126 179577126 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 179577126 179577126 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.23791 p.T7931A 0.140 pfam_Ig_I-set,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 139 0 0 113 16 12.4031 MFSD6 0 genome.wustl.edu 37 2 191300954 191300954 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 191300954 191300954 G A SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.199 p.D67N 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 87 0 0 73 14 16.092 COQ10B 0 genome.wustl.edu 37 2 198327368 198327368 + Nonsense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 198327368 198327368 T G SNP COQ10B ENST00000263960 human ensembl 74_37 +1 known nonsense c.360 p.Y120* 0.998 pfam_Polyket_cyc pfam_Polyket_cyc - no_errors COQ10B HGNC ENSG00000115520 62 0 0 39 5 11.3636 C2orf69 0 genome.wustl.edu 37 2 200789976 200789976 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 200789976 200789976 A C SNP C2orf69 ENST00000319974 human ensembl 74_37 +1 known silent c.525 p.P175 0.998 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 87 0 0 60 19 24.0506 CYP27A1 0 genome.wustl.edu 37 2 219677014 219677014 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 219677014 219677014 G A SNP CYP27A1 ENST00000445971 human ensembl 74_37 +1 known missense c.325 p.A109T 0.000 NULL NULL - no_errors CYP27A1 HGNC ENSG00000135929 148 0 0 139 25 15.2439 OBSL1 0 genome.wustl.edu 37 2 220421238 220421238 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 220421238 220421238 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4274 p.D1425G 0.984 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,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 163 0 0 128 31 19.4969 SLC4A3 0 genome.wustl.edu 37 2 220502442 220502442 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 220502442 220502442 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2756 p.T919M 1.000 pfam_HCO3_transpt_C,prints_Anion_exchange,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 73 0 0 73 18 19.7802 AGAP1 0 genome.wustl.edu 37 2 236949398 236949398 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 236949398 236949398 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1804 p.R602W 1.000 NULL 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 46 0 0 48 9 15.7895 KIF1A 0 genome.wustl.edu 37 2 241706365 241706365 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 241706365 241706365 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1651 p.V551I 0.992 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 21 0 0 21 8 27.5862 HDLBP 0 genome.wustl.edu 37 2 242181952 242181952 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 242181952 242181952 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2092 p.D698N 0.640 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 47 0 0 47 7 12.963 OTOF 0 genome.wustl.edu 37 2 26684616 26684616 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 26684616 26684616 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.5481 p.R1827 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 129 0 0 129 25 16.2338 DPYSL5 0 genome.wustl.edu 37 2 27157457 27157457 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 27157457 27157457 C T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.802 p.L268 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 175 0 0 148 34 18.6813 C2orf16 0 genome.wustl.edu 37 2 27804551 27804551 + Silent SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 27804551 27804551 T A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known silent c.5112 p.G1704 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 317 0 0 263 62 19.0769 LTBP1 0 genome.wustl.edu 37 2 33567940 33567940 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 33567940 33567940 A C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.3769 p.S1257R 0.996 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_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 76 0 0 56 9 13.8462 LTBP1 0 genome.wustl.edu 37 2 33588554 33588554 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 33588554 33588554 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.4371 p.T1457 0.992 smart_EGF-like_Ca-bd_dom,smart_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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 98 0 0 59 16 21.3333 LHCGR 0 genome.wustl.edu 37 2 48874192 48874192 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 48874192 48874192 G A SNP LHCGR ENST00000420913 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LHCGR HGNC ENSG00000138039 25 0 0 19 7 26.9231 TSPYL6 0 genome.wustl.edu 37 2 54482990 54482990 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 54482990 54482990 G A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.299 p.A100V 0.006 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 74 0 0 68 24 26.087 MEIS1 0 genome.wustl.edu 37 2 66798629 66798629 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 66798629 66798629 A G SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.1366 p.S456G 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 10 0 0 6 5 45.4545 PCYOX1 0 genome.wustl.edu 37 2 70502099 70502099 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 70502099 70502099 G A SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known missense c.503 p.R168H 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 81 0 0 57 4 6.55738 ADD2 0 genome.wustl.edu 37 2 70903863 70903863 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 70903863 70903863 C A SNP ADD2 ENST00000430656 human ensembl 74_37 -1 known missense c.1706 p.G569V 0.067 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 16 0 0 19 6 24 MPHOSPH10 0 genome.wustl.edu 37 2 71361861 71361861 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 71361861 71361861 A G SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known silent c.1032 p.T344 0.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 104 0 0 60 15 20 DYSF 0 genome.wustl.edu 37 2 71795404 71795404 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 71795404 71795404 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2839 p.D947Y 1.000 smart_Peroxin/Ferlin 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 446 0 0 434 70 13.8889 DYSF 0 genome.wustl.edu 37 2 71909668 71909668 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 71909668 71909668 A G SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.6158 p.D2053G 1.000 superfamily_MFS_dom_general_subst_transpt 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 120 0 0 129 15 10.4167 TET3 0 genome.wustl.edu 37 2 74273836 74273836 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 74273836 74273836 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.387 p.R129 0.868 NULL NULL - no_errors TET3 HGNC ENSG00000187605 100 1 0.990099 91 14 13.3333 INO80B 0 genome.wustl.edu 37 2 74683363 74683363 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 74683363 74683363 G T SNP INO80B ENST00000452361 human ensembl 74_37 +1 known missense c.504 p.K168N 1.000 NULL pfam_INO80B_C,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 93 0 0 57 15 20.8333 LOXL3 0 genome.wustl.edu 37 2 74761728 74761728 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 74761728 74761728 G T SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.1753 p.H585N 1.000 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 LOXL3 HGNC ENSG00000115318 63 0 0 41 6 12.766 ANKRD20A8P 0 genome.wustl.edu 37 2 95494773 95494773 + RNA SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 95494773 95494773 C A SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 122 0 0 71 13 15.4762 ZAP70 0 genome.wustl.edu 37 2 98340609 98340609 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 98340609 98340609 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.110 p.R37H 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_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 ZAP70 HGNC ENSG00000115085 12 0 0 15 3 16.6667 KIF16B 0 genome.wustl.edu 37 20 16359990 16359990 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 16359990 16359990 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2657 p.T886M 0.003 NULL 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 127 0 0 85 16 15.8416 NKX2-2 0 genome.wustl.edu 37 20 21492693 21492693 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 21492693 21492693 C T SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.690 p.A230 0.916 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 50 0 0 56 12 17.6471 SSTR4 0 genome.wustl.edu 37 20 23016705 23016705 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 23016705 23016705 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known silent c.585 p.A195 0.236 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 70 0 0 112 16 12.5 HCK 0 genome.wustl.edu 37 20 30672331 30672331 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 30672331 30672331 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.820 p.G274R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 63 0 0 58 8 12.1212 ASXL1 0 genome.wustl.edu 37 20 30956840 30956840 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 30956840 30956840 C A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.166 p.L56I 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 69 0 0 63 9 12.5 ASXL1 0 genome.wustl.edu 37 20 31022318 31022318 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 31022318 31022318 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.1803 p.T601 0.952 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 70 0 0 60 14 18.9189 LZTS3 0 genome.wustl.edu 37 20 3145154 3145154 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 3145154 3145154 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known silent c.1968 p.E656 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 81 0 0 89 20 18.3486 BPIFB6 0 genome.wustl.edu 37 20 31619462 31619462 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 31619462 31619462 G A SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known silent c.9 p.R3 0.758 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_C - no_errors BPIFB6 HGNC ENSG00000167104 27 0 0 22 5 18.5185 BPIFA3 0 genome.wustl.edu 37 20 31813012 31813012 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 31813012 31813012 C T SNP BPIFA3 ENST00000375454 human ensembl 74_37 +1 known silent c.495 p.C165 0.057 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA3 HGNC ENSG00000131059 106 0 0 100 20 16.6667 ITPA 0 genome.wustl.edu 37 20 3204042 3204042 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 3204042 3204042 C T SNP ITPA ENST00000380113 human ensembl 74_37 +1 known silent c.519 p.N173 0.001 pfam_Ham1p-like,tigrfam_Ham1p-like pfam_Ham1p-like,tigrfam_Ham1p-like - no_errors ITPA HGNC ENSG00000125877 45 0 0 42 9 17.6471 NCOA6 0 genome.wustl.edu 37 20 33330813 33330813 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 33330813 33330813 G A SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known nonsense c.3247 p.Q1083* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 115 0 0 127 20 13.6054 NCOA6 0 genome.wustl.edu 37 20 33331122 33331122 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 33331122 33331122 G A SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known nonsense c.2938 p.Q980* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 86 0 0 79 16 16.8421 NCOA6 0 genome.wustl.edu 37 20 33345720 33345720 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 33345720 33345720 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.831 p.Q277 0.932 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 36 0 0 57 6 9.52381 GGT7 0 genome.wustl.edu 37 20 33442648 33442648 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 33442648 33442648 T C SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.1181 p.N394S 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 38 0 0 68 5 6.84932 C20orf194 0 genome.wustl.edu 37 20 3362033 3362033 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 3362033 3362033 T C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.276 p.V92 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 42 0 0 45 5 10 ERGIC3 0 genome.wustl.edu 37 20 34143892 34143892 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 34143892 34143892 C T SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.851 p.A284V 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 175 1 0.568182 175 30 14.6341 RBM39 0 genome.wustl.edu 37 20 34313012 34313012 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 34313012 34313012 G A SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.482 p.A161V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 106 0 0 87 12 12.1212 SNX21 0 genome.wustl.edu 37 20 44470412 44470412 + RNA SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 44470412 44470412 T C SNP SNX21 ENST00000344780 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNX21 HGNC ENSG00000124104 10 0 0 9 2 18.1818 SNORD12C 0 genome.wustl.edu 37 20 47895511 47895511 + RNA SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 47895511 47895511 T C SNP SNORD12C ENST00000386307 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD12C HGNC ENSG00000209042 49 0 0 37 12 24.4898 KCNB1 0 genome.wustl.edu 37 20 47991220 47991220 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 47991220 47991220 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.877 p.R293C 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 76 0 0 78 17 17.8947 ZNF217 0 genome.wustl.edu 37 20 52192367 52192367 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 52192367 52192367 T A SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.2936 p.D979V 0.123 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 63 0 0 61 12 16.4384 DOK5 0 genome.wustl.edu 37 20 53205319 53205319 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 53205319 53205319 C T SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.383 p.A128V 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 72 0 0 49 11 18.3333 GMEB2 0 genome.wustl.edu 37 20 62221599 62221599 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 62221599 62221599 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.1436 p.T479M 0.998 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 41 0 0 60 9 13.0435 ZGPAT 0 genome.wustl.edu 37 20 62364695 62364695 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 62364695 62364695 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.709 p.R237C 0.881 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 33 0 0 31 6 16.2162 KRTAP11-1 0 genome.wustl.edu 37 21 32253379 32253379 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 32253379 32253379 G A SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known silent c.465 p.C155 0.012 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 91 0 0 108 21 16.2791 TIAM1 0 genome.wustl.edu 37 21 32617947 32617947 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 32617947 32617947 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1441 p.G481S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 38 0 0 30 6 16.6667 GART 0 genome.wustl.edu 37 21 34882226 34882226 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 34882226 34882226 A G SNP GART ENST00000381815 human ensembl 74_37 -1 known silent c.2316 p.G772 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 38 0 0 22 11 33.3333 GART 0 genome.wustl.edu 37 21 34903066 34903066 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 34903066 34903066 T C SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.722 p.Q241R 1.000 pfam_PRibGlycinamid_synth_ATP-grasp,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 58 0 0 48 10 17.2414 TTC3 0 genome.wustl.edu 37 21 38522411 38522411 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 38522411 38522411 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.2152 p.C718R 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 43 0 0 31 8 20.5128 UMODL1 0 genome.wustl.edu 37 21 43531464 43531464 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 43531464 43531464 A C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.2132 p.E711A 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 30 0 0 34 5 12.8205 POFUT2 0 genome.wustl.edu 37 21 46689763 46689763 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 46689763 46689763 C T SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known missense c.1003 p.V335I 0.513 pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 51 0 0 57 9 13.6364 COL6A1 0 genome.wustl.edu 37 21 47401807 47401807 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 47401807 47401807 T C SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.43 p.C15R 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 21 0 0 12 9 42.8571 COL6A2 0 genome.wustl.edu 37 21 47552160 47552160 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 47552160 47552160 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.2754 p.G918 0.082 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 18 0 0 28 5 15.1515 PCNT 0 genome.wustl.edu 37 21 47841889 47841889 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 47841889 47841889 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.7030 p.G2344S 0.023 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 88 0 0 76 13 14.6067 CCT8L2 0 genome.wustl.edu 37 22 17072813 17072813 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 17072813 17072813 C T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.628 p.G210R 0.004 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 109 0 0 99 16 13.913 SLC25A18 0 genome.wustl.edu 37 22 18072980 18072980 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 18072980 18072980 G A SNP SLC25A18 ENST00000327451 human ensembl 74_37 +1 known missense c.926 p.R309H 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 143 0 0 121 28 18.7919 DGCR14 0 genome.wustl.edu 37 22 19130370 19130370 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 19130370 19130370 T G SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.173 p.D58A 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 161 0 0 140 24 14.6341 CLDN5 0 genome.wustl.edu 37 22 19511290 19511290 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 19511290 19511290 C T SNP CLDN5 ENST00000403084 human ensembl 74_37 -1 known silent c.744 p.A248 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5 - no_errors CLDN5 HGNC ENSG00000184113 12 0 0 20 5 20 TBX1 0 genome.wustl.edu 37 22 19748693 19748693 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 19748693 19748693 G A SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known silent c.300 p.P100 1.000 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 TBX1 HGNC ENSG00000184058 14 0 0 21 6 22.2222 COMT 0 genome.wustl.edu 37 22 19951207 19951207 + Silent SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 19951207 19951207 C G SNP COMT ENST00000361682 human ensembl 74_37 +1 known silent c.408 p.L136 0.490 pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 51 0 0 36 5 12.1951 ARVCF 0 genome.wustl.edu 37 22 19961272 19961272 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 19961272 19961272 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known silent c.2133 p.L711 0.996 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 111 0 0 114 35 23.4899 RTN4R 0 genome.wustl.edu 37 22 20230301 20230301 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 20230301 20230301 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.355 p.R119W 0.159 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 44 0 0 39 16 29.0909 PPM1F 0 genome.wustl.edu 37 22 22279923 22279923 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 22279923 22279923 C T SNP PPM1F ENST00000397495 human ensembl 74_37 -1 novel missense c.1004 p.R335Q 0.000 smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 26 0 0 24 6 20 GNAZ 0 genome.wustl.edu 37 22 23438138 23438138 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 23438138 23438138 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.256 p.R86W 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I 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 245 0 0 232 46 16.5468 CABIN1 0 genome.wustl.edu 37 22 24572175 24572175 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 24572175 24572175 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.6137 p.P2046L 0.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 17 0 0 15 3 16.6667 CABIN1 0 genome.wustl.edu 37 22 24574128 24574128 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 24574128 24574128 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.6627 p.S2209 0.577 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 62 0 0 63 11 14.8649 GGT1 0 genome.wustl.edu 37 22 25024064 25024064 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 25024064 25024064 G A SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known silent c.1353 p.S451 0.043 pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 105 0 0 112 22 16.4179 CRYBB3 0 genome.wustl.edu 37 22 25601264 25601264 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 25601264 25601264 C T SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known silent c.405 p.D135 0.965 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_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 CRYBB3 HGNC ENSG00000100053 39 0 0 31 12 27.907 HPS4 0 genome.wustl.edu 37 22 26860585 26860585 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 26860585 26860585 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.1050 p.R350 0.001 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 86 0 0 84 16 16 MN1 0 genome.wustl.edu 37 22 28193443 28193443 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 28193443 28193443 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3089 p.G1030D 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 86 0 0 117 19 13.9706 RHBDD3 0 genome.wustl.edu 37 22 29656437 29656437 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 29656437 29656437 C T SNP RHBDD3 ENST00000216085 human ensembl 74_37 -1 known silent c.861 p.P287 0.000 NULL pfam_Peptidase_S54_rhomboid_dom,superfamily_UBA-like - no_errors RHBDD3 HGNC ENSG00000100263 15 0 0 24 6 20 NEFH 0 genome.wustl.edu 37 22 29879422 29879422 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 29879422 29879422 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known silent c.942 p.A314 0.118 pfam_IF pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 195 0 0 166 34 17 OSBP2 0 genome.wustl.edu 37 22 31091509 31091509 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 31091509 31091509 G A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.613 p.V205M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 124 0 0 114 23 16.7883 LIMK2 0 genome.wustl.edu 37 22 31674530 31674530 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 31674530 31674530 C T SNP LIMK2 ENST00000467301 human ensembl 74_37 +1 known rna NULL NULL 0.296 - - - no_errors LIMK2 HGNC ENSG00000182541 19 0 0 29 5 14.7059 DEPDC5 0 genome.wustl.edu 37 22 32200851 32200851 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 32200851 32200851 T C SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known silent c.1167 p.R389 0.060 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 166 0 0 153 32 17.2973 MYH9 0 genome.wustl.edu 37 22 36714278 36714278 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 36714278 36714278 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1201 p.V401I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 181 0 0 145 26 15.2047 IL2RB 0 genome.wustl.edu 37 22 37524763 37524763 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 37524763 37524763 C T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known silent c.1029 p.V343 0.000 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 55 0 0 51 5 8.92857 GGA1 0 genome.wustl.edu 37 22 38016860 38016860 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 38016860 38016860 C A SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.468 p.T156 0.109 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 GGA1 HGNC ENSG00000100083 123 0 0 97 20 17.094 PLA2G6 0 genome.wustl.edu 37 22 38531068 38531068 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 38531068 38531068 A G SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.821 p.M274T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 52 0 0 43 5 10.4167 CBX6 0 genome.wustl.edu 37 22 39263058 39263058 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 39263058 39263058 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.395 p.R132H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 16 0 0 25 11 30.5556 XPNPEP3 0 genome.wustl.edu 37 22 41310311 41310311 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 41310311 41310311 G A SNP XPNPEP3 ENST00000357137 human ensembl 74_37 +1 known silent c.1038 p.T346 0.707 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 76 0 0 66 11 14.2857 EP300 0 genome.wustl.edu 37 22 41566520 41566520 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 41566520 41566520 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4397 p.W1466L 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 72 0 0 61 16 20.7792 POLDIP3 0 genome.wustl.edu 37 22 42998873 42998873 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 42998873 42998873 C T SNP POLDIP3 ENST00000252115 human ensembl 74_37 -1 known missense c.353 p.R118Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 150 0 0 124 32 20.5128 SCUBE1 0 genome.wustl.edu 37 22 43617179 43617179 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 43617179 43617179 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1549 p.D517Y 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 - no_errors SCUBE1 HGNC ENSG00000159307 41 0 0 39 8 17.0213 EFCAB6 0 genome.wustl.edu 37 22 43924750 43924750 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 43924750 43924750 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.4489 p.R1497W 0.135 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 73 0 0 64 19 22.8916 GTSE1 0 genome.wustl.edu 37 22 46704465 46704465 + Silent SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 46704465 46704465 T A SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known silent c.387 p.P129 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 70 0 0 90 16 15.0943 BRD1 0 genome.wustl.edu 37 22 50187724 50187724 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 50187724 50187724 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.2317 p.E773K 0.846 NULL 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 54 0 0 60 11 15.493 PANX2 0 genome.wustl.edu 37 22 50615792 50615792 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 50615792 50615792 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.651 p.R217 0.307 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 16 0 0 21 4 16 PANX2 0 genome.wustl.edu 37 22 50617461 50617461 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 50617461 50617461 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.1789 p.A597T 0.005 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 21 0 0 29 9 23.6842 PLXNB2 0 genome.wustl.edu 37 22 50722652 50722652 + RNA SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 50722652 50722652 A C SNP PLXNB2 ENST00000496720 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLXNB2 HGNC ENSG00000196576 55 0 0 82 17 17.1717 SBF1 0 genome.wustl.edu 37 22 50885994 50885994 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 50885994 50885994 G T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.5408 p.P1803H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 37 0 0 42 7 14.2857 GPR128 0 genome.wustl.edu 37 3 100413765 100413765 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 100413765 100413765 C T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.2314 p.R772C 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 88 0 0 57 13 18.5714 IMPG2 0 genome.wustl.edu 37 3 101038523 101038523 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 101038523 101038523 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.239 p.R80Q 0.074 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 110 1 0.900901 92 17 15.5963 ZNF80 0 genome.wustl.edu 37 3 113955576 113955576 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 113955576 113955576 G A SNP ZNF80 ENST00000308095 human ensembl 74_37 -1 known missense c.346 p.R116C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 53 0 0 34 15 30.6122 ZBTB20 0 genome.wustl.edu 37 3 114069871 114069871 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 114069871 114069871 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1054 p.E352K 0.998 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 ZBTB20 HGNC ENSG00000181722 67 0 0 77 24 23.7624 POLQ 0 genome.wustl.edu 37 3 121200437 121200437 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 121200437 121200437 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known nonsense c.6193 p.Q2065* 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 58 0 0 53 8 13.1148 GOLGB1 0 genome.wustl.edu 37 3 121415133 121415133 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 121415133 121415133 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.4222 p.V1408I 0.899 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 133 0 0 97 21 17.7966 MCM2 0 genome.wustl.edu 37 3 127335840 127335840 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 127335840 127335840 C T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.1652 p.A551V 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 146 0 0 141 25 15.0602 TMCC1 0 genome.wustl.edu 37 3 129389916 129389916 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 129389916 129389916 G A SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known silent c.768 p.D256 0.993 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 196 0 0 179 28 13.5266 A4GNT 0 genome.wustl.edu 37 3 137843319 137843319 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 137843319 137843319 G A SNP A4GNT ENST00000236709 human ensembl 74_37 -1 known silent c.810 p.R270 0.169 pfam_A1-4-GlycosylTfrase_dom pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ENSG00000118017 82 0 0 57 14 19.7183 ZIC4 0 genome.wustl.edu 37 3 147108882 147108882 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 147108882 147108882 C T SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known silent c.990 p.S330 0.988 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 55 0 0 55 17 23.6111 HLTF 0 genome.wustl.edu 37 3 148802525 148802525 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 148802525 148802525 C T SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.172 p.V58I 0.958 NULL 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 70 0 0 30 13 30.2326 HPS3 0 genome.wustl.edu 37 3 148872966 148872966 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 148872966 148872966 G A SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.1473 p.V491 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 75 0 0 40 6 13.0435 SIAH2 0 genome.wustl.edu 37 3 150460061 150460061 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 150460061 150460061 C T SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.842 p.R281H 0.999 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 79 0 0 49 17 25.7576 MED12L 0 genome.wustl.edu 37 3 151082765 151082765 + Splice_Site SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 151082765 151082765 A C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known splice_site c.2853-2 e20-2 1.000 - - - no_errors MED12L HGNC ENSG00000144893 100 0 0 92 18 16.3636 SI 0 genome.wustl.edu 37 3 164716334 164716334 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 164716334 164716334 T A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4534 p.I1512F 0.924 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 83 0 0 78 23 22.7723 SLC7A14 0 genome.wustl.edu 37 3 170185060 170185060 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 170185060 170185060 T C SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.2099 p.D700G 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 54 0 0 46 14 23.3333 SLC7A14 0 genome.wustl.edu 37 3 170201151 170201151 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 170201151 170201151 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1067 p.P356L 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 81 0 0 87 16 15.534 USP13 0 genome.wustl.edu 37 3 179459997 179459997 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 179459997 179459997 G A SNP USP13 ENST00000263966 human ensembl 74_37 +1 known missense c.1393 p.G465S 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 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 47 0 0 37 12 24.4898 FXR1 0 genome.wustl.edu 37 3 180666221 180666221 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 180666221 180666221 A G SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known silent c.357 p.K119 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 41 0 0 36 9 20 HTR3E 0 genome.wustl.edu 37 3 183822019 183822019 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 183822019 183822019 T C SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.374 p.I125T 0.232 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 28 0 0 21 4 16 DVL3 0 genome.wustl.edu 37 3 183883972 183883972 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 183883972 183883972 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.822 p.G274 0.168 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 103 0 0 74 14 15.9091 EIF4G1 0 genome.wustl.edu 37 3 184035263 184035263 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 184035263 184035263 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.323 p.G108V 0.998 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 EIF4G1 HGNC ENSG00000114867 84 0 0 75 13 14.7727 EIF4G1 0 genome.wustl.edu 37 3 184040486 184040486 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 184040486 184040486 A G SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.1784 p.Q595R 1.000 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 EIF4G1 HGNC ENSG00000114867 62 0 0 46 9 16.3636 MASP1 0 genome.wustl.edu 37 3 186953630 186953630 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 186953630 186953630 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.2029 p.R677C 0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 59 0 0 49 11 18.3333 TPRG1 0 genome.wustl.edu 37 3 189038571 189038571 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 189038571 189038571 C T SNP TPRG1 ENST00000345063 human ensembl 74_37 +1 known missense c.790 p.L264F 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 35 0 0 17 5 22.7273 TP63 0 genome.wustl.edu 37 3 189349368 189349368 + Splice_Site SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 189349368 189349368 T C SNP TP63 ENST00000264731 human ensembl 74_37 +1 known splice_site c.62+2 e1+2 1.000 - - - no_errors TP63 HGNC ENSG00000073282 141 1 0.704225 112 16 12.5 MUC4 0 genome.wustl.edu 37 3 195481147 195481147 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 195481147 195481147 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15265 p.V5089I 0.009 smart_EG-like_dom 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 87 0 0 107 13 10.8333 LMLN 0 genome.wustl.edu 37 3 197751625 197751625 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 197751625 197751625 T C SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1622 p.L541P 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 145 0 0 83 21 20.1923 LINC00691 0 genome.wustl.edu 37 3 24138673 24138673 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 24138673 24138673 C T SNP LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.143 - - - no_errors LINC00691 HGNC ENSG00000224074 34 0 0 23 6 20.6897 OSBPL10 0 genome.wustl.edu 37 3 31705656 31705656 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 31705656 31705656 C T SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.2165 p.R722Q 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 93 0 0 115 21 15.4412 VILL 0 genome.wustl.edu 37 3 38039115 38039115 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 38039115 38039115 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.703 p.R235C 0.305 NULL 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 54 0 0 58 9 13.4328 ACVR2B 0 genome.wustl.edu 37 3 38524694 38524694 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 38524694 38524694 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known silent c.1410 p.S470 0.004 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 ACVR2B HGNC ENSG00000114739 135 0 0 125 32 20.3822 ZNF620 0 genome.wustl.edu 37 3 40557930 40557930 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 40557930 40557930 G A SNP ZNF620 ENST00000314529 human ensembl 74_37 +1 known missense c.845 p.C282Y 0.988 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 ZNF620 HGNC ENSG00000177842 80 0 0 69 8 10.3896 SUMF1 0 genome.wustl.edu 37 3 4452611 4452611 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 4452611 4452611 C T SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known missense c.892 p.A298T 0.464 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 127 0 0 90 24 21.0526 TGM4 0 genome.wustl.edu 37 3 44929185 44929185 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 44929185 44929185 G A SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known silent c.198 p.P66 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 51 0 0 44 6 12 CDCP1 0 genome.wustl.edu 37 3 45132792 45132792 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 45132792 45132792 G A SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known silent c.1866 p.D622 0.963 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 92 0 0 96 17 15.0442 CCR9 0 genome.wustl.edu 37 3 45942873 45942873 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 45942873 45942873 G A SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.593 p.C198Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 72 0 0 67 9 11.8421 ITPR1 0 genome.wustl.edu 37 3 4683889 4683889 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 4683889 4683889 G T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.479 p.W160L 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 34 0 0 23 9 28.125 NBEAL2 0 genome.wustl.edu 37 3 47040832 47040832 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 47040832 47040832 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.3571 p.R1191W 1.000 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 18 0 0 22 2 8.33333 ITPR1 0 genome.wustl.edu 37 3 4821278 4821278 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 4821278 4821278 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.6291 p.H2097 0.986 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 100 0 0 100 14 12.2807 LAMB2 0 genome.wustl.edu 37 3 49168514 49168514 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 49168514 49168514 G T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.784 p.P262T 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 78 0 0 75 12 13.7931 RBM6 0 genome.wustl.edu 37 3 50099450 50099450 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 50099450 50099450 A G SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2495 p.E832G 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 49 0 0 48 13 21.3115 DOCK3 0 genome.wustl.edu 37 3 51101994 51101994 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 51101994 51101994 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.431 p.R144Q 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 76 0 0 76 22 22.449 PCBP4 0 genome.wustl.edu 37 3 51993974 51993974 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 51993974 51993974 C T SNP PCBP4 ENST00000395014 human ensembl 74_37 -1 known silent c.516 p.T172 0.009 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 104 0 0 84 21 20 NISCH 0 genome.wustl.edu 37 3 52522496 52522496 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 52522496 52522496 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2988 p.R996 0.103 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 78 0 0 79 14 15.0538 EDEM1 0 genome.wustl.edu 37 3 5255177 5255177 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 5255177 5255177 T C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known silent c.1854 p.H618 0.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 35 0 0 28 8 22.2222 PBRM1 0 genome.wustl.edu 37 3 52702537 52702537 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 52702537 52702537 T A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.361 p.N121Y 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 22 0 0 13 5 27.7778 PBRM1 0 genome.wustl.edu 37 3 52702554 52702554 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 52702554 52702554 T A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.344 p.D115V 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 27 0 0 16 5 23.8095 CACNA1D 0 genome.wustl.edu 37 3 53736702 53736702 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 53736702 53736702 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.1255 p.R419W 0.984 prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 51 0 0 40 11 21.5686 FLNB 0 genome.wustl.edu 37 3 58141780 58141780 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 58141780 58141780 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.6866 p.R2289H 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like 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 FLNB HGNC ENSG00000136068 56 0 0 64 5 7.24638 PTPRG 0 genome.wustl.edu 37 3 62258636 62258636 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 62258636 62258636 A C SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.3198 p.R1066S 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_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 51 0 0 40 7 14.8936 GRM7 0 genome.wustl.edu 37 3 7721878 7721878 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 7721878 7721878 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.2594 p.A865V 1.000 NULL 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 69 0 0 45 14 23.7288 COL8A1 0 genome.wustl.edu 37 3 99514770 99514770 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 99514770 99514770 G T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.2025 p.W675C 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 65 0 0 56 14 20 SLC9B1 0 genome.wustl.edu 37 4 103822279 103822279 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 103822279 103822279 G T SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.1543 p.H515N 0.200 NULL pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 116 0 0 93 12 11.4286 TET2 0 genome.wustl.edu 37 4 106157081 106157081 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 106157081 106157081 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1982 p.H661R 0.088 NULL NULL - no_errors TET2 HGNC ENSG00000168769 60 0 0 47 13 21.6667 CCDC109B 0 genome.wustl.edu 37 4 110606496 110606496 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 110606496 110606496 C T SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known silent c.906 p.Y302 1.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 33 0 0 27 4 12.9032 NDST4 0 genome.wustl.edu 37 4 115858656 115858656 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 115858656 115858656 G A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.1225 p.H409Y 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 45 0 0 47 13 21.6667 KIAA1109 0 genome.wustl.edu 37 4 123202741 123202741 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 123202741 123202741 C A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.8849 p.T2950N 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 55 0 0 47 10 17.5439 KIAA1109 0 genome.wustl.edu 37 4 123237962 123237962 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 123237962 123237962 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.10615 p.R3539C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 66 0 0 44 14 24.1379 TBC1D9 0 genome.wustl.edu 37 4 141543721 141543721 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 141543721 141543721 G A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.3429 p.N1143 0.894 NULL 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 TBC1D9 HGNC ENSG00000109436 104 0 0 95 23 19.4915 DCLK2 0 genome.wustl.edu 37 4 151000236 151000236 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 151000236 151000236 G A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known silent c.57 p.P19 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 26 0 0 17 6 26.087 PET112 0 genome.wustl.edu 37 4 152629223 152629223 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 152629223 152629223 G A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.794 p.S265F 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 56 0 0 49 8 14.0351 LRAT 0 genome.wustl.edu 37 4 155665737 155665737 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 155665737 155665737 C T SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.259 p.R87C 0.417 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 50 0 0 57 11 16.1765 NPY2R 0 genome.wustl.edu 37 4 156135336 156135336 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 156135336 156135336 G A SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.245 p.R82H 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 51 0 0 46 8 14.8148 GRIA2 0 genome.wustl.edu 37 4 158233993 158233993 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 158233993 158233993 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.632 p.C211Y 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 GRIA2 HGNC ENSG00000120251 141 0 0 85 19 18.2692 FAM198B 0 genome.wustl.edu 37 4 159091771 159091771 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 159091771 159091771 C T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.757 p.A253T 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 41 0 0 47 15 24.1935 RXFP1 0 genome.wustl.edu 37 4 159493936 159493936 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 159493936 159493936 C T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.136 p.H46Y 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 104 0 0 103 16 13.4454 RXFP1 0 genome.wustl.edu 37 4 159526258 159526258 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 159526258 159526258 A G SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.431 p.D144G 0.956 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 39 0 0 19 4 17.3913 DDX60L 0 genome.wustl.edu 37 4 169336605 169336605 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 169336605 169336605 A C SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.2933 p.V978G 0.006 superfamily_P-loop_NTPase 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 - no_errors DDX60L HGNC ENSG00000181381 38 0 0 22 5 18.5185 ADAM29 0 genome.wustl.edu 37 4 175898136 175898136 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 175898136 175898136 G A SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1460 p.C487Y 0.041 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 101 0 0 84 26 23.6364 NEIL3 0 genome.wustl.edu 37 4 178262784 178262784 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 178262784 178262784 A G SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.857 p.H286R 0.000 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 23 0 0 23 5 17.8571 LCORL 0 genome.wustl.edu 37 4 17847433 17847433 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 17847433 17847433 G A SNP LCORL ENST00000326877 human ensembl 74_37 -1 known missense c.868 p.R290C 1.000 NULL NULL - no_errors LCORL HGNC ENSG00000178177 119 0 0 72 13 15.2941 TENM3 0 genome.wustl.edu 37 4 183267894 183267894 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 183267894 183267894 G T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.323 p.R108I 1.000 pfam_Ten_N 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 22 0 0 22 5 18.5185 STOX2 0 genome.wustl.edu 37 4 184930580 184930580 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 184930580 184930580 G A SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.589 p.D197N 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 92 0 0 88 25 22.1239 ZFP42 0 genome.wustl.edu 37 4 188924176 188924176 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 188924176 188924176 A G SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.215 p.Y72C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 70 0 0 54 13 19.403 TRIML1 0 genome.wustl.edu 37 4 189068025 189068025 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 189068025 189068025 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known silent c.906 p.S302 0.076 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 180 0 0 140 24 14.6341 HSP90AA4P 0 genome.wustl.edu 37 4 190394377 190394377 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 190394377 190394377 C T SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 35 0 0 32 6 15.7895 SEL1L3 0 genome.wustl.edu 37 4 25849008 25849008 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 25849008 25849008 G T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.641 p.P214H 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 64 0 0 39 8 17.0213 PCDH7 0 genome.wustl.edu 37 4 30724711 30724711 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 30724711 30724711 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1667 p.T556M 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 62 0 0 51 12 19.0476 HGFAC 0 genome.wustl.edu 37 4 3451076 3451076 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 3451076 3451076 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1898 p.R633H 0.791 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 59 0 0 74 19 20.4301 KLB 0 genome.wustl.edu 37 4 39408583 39408583 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 39408583 39408583 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.14 p.C5Y 0.997 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 31 0 0 22 6 21.4286 KLB 0 genome.wustl.edu 37 4 39448221 39448221 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 39448221 39448221 C T SNP KLB ENST00000257408 human ensembl 74_37 +1 known silent c.1875 p.C625 0.994 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 64 0 0 72 19 20.8791 NFXL1 0 genome.wustl.edu 37 4 47901013 47901013 + Silent SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 47901013 47901013 A T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known silent c.951 p.L317 0.936 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 83 0 0 43 13 23.2143 SPATA18 0 genome.wustl.edu 37 4 52943184 52943184 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 52943184 52943184 G A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.998 p.R333Q 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 22 0 0 21 6 22.2222 PDGFRA 0 genome.wustl.edu 37 4 55138612 55138612 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 55138612 55138612 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1289 p.G430E 0.679 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 - no_errors PDGFRA HGNC ENSG00000134853 56 0 0 57 12 17.3913 EXOC1 0 genome.wustl.edu 37 4 56736875 56736875 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 56736875 56736875 A G SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.635 p.K212R 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 66 0 0 45 7 13.4615 EPHA5 0 genome.wustl.edu 37 4 66467570 66467570 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 66467570 66467570 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.699 p.C233 1.000 pfam_Ephrin_rcpt_lig-bd_dom,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_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 52 0 0 44 9 16.9811 MFSD7 0 genome.wustl.edu 37 4 678306 678306 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 678306 678306 A G SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.809 p.L270P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 121 0 0 104 25 19.3798 TMPRSS11A 0 genome.wustl.edu 37 4 68784721 68784721 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 68784721 68784721 T C SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.931 p.I311V 0.832 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 117 0 0 81 28 25.6881 PCGF3 0 genome.wustl.edu 37 4 727522 727522 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 727522 727522 G A SNP PCGF3 ENST00000362003 human ensembl 74_37 +1 known missense c.53 p.R18H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 104 0 0 94 20 17.5439 AFAP1 0 genome.wustl.edu 37 4 7776532 7776532 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 7776532 7776532 G A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1996 p.R666W 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 83 0 0 63 16 20.2532 FRAS1 0 genome.wustl.edu 37 4 79373470 79373470 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 79373470 79373470 A C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.6725 p.Q2242P 0.999 superfamily_Cadherin-like pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 35 0 0 45 6 11.7647 SH3TC1 0 genome.wustl.edu 37 4 8233879 8233879 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 8233879 8233879 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.3127 p.E1043K 0.997 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 20 0 0 22 6 21.4286 THAP9 0 genome.wustl.edu 37 4 83839452 83839452 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 83839452 83839452 G T SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.2087 p.W696L 0.979 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 144 0 0 110 6 5.17241 GRID2 0 genome.wustl.edu 37 4 94032058 94032058 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 94032058 94032058 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.689 p.A230V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 89 0 0 72 5 6.49351 PDLIM5 0 genome.wustl.edu 37 4 95539205 95539205 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 95539205 95539205 G A SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.971 p.R324Q 0.023 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 43 0 0 36 14 28 SLCO6A1 0 genome.wustl.edu 37 5 101834417 101834417 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 101834417 101834417 G A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.132 p.P44 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 228 0 0 293 59 16.7614 STARD4 0 genome.wustl.edu 37 5 110836635 110836635 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 110836635 110836635 C A SNP STARD4 ENST00000502322 human ensembl 74_37 -1 putative missense c.462 p.W154C 0.000 NULL pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 34 0 0 29 6 17.1429 MCC 0 genome.wustl.edu 37 5 112399732 112399732 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 112399732 112399732 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1592 p.A531V 0.994 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 78 0 0 115 20 14.8148 SLC12A2 0 genome.wustl.edu 37 5 127487003 127487003 + Silent SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 127487003 127487003 A T SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known silent c.2178 p.V726 0.996 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 116 0 0 75 18 19.3548 ADAMTS19 0 genome.wustl.edu 37 5 129037216 129037216 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 129037216 129037216 G T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3072 p.K1024N 0.993 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 79 0 0 75 15 16.6667 TERT 0 genome.wustl.edu 37 5 1294681 1294681 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 1294681 1294681 G T SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.320 p.A107D 0.001 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 15 0 0 15 6 28.5714 PDLIM4 0 genome.wustl.edu 37 5 131606734 131606734 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 131606734 131606734 G A SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.454 p.E152K 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 195 0 0 170 59 25.7642 RAD50 0 genome.wustl.edu 37 5 131973851 131973851 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 131973851 131973851 G A SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.3554 p.R1185Q 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 71 0 0 48 18 27.2727 KIF3A 0 genome.wustl.edu 37 5 132061858 132061858 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 132061858 132061858 G A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.472 p.R158C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 36 0 0 36 5 12.1951 DNAH5 0 genome.wustl.edu 37 5 13729585 13729585 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 13729585 13729585 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11846 p.L3949R 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 DNAH5 HGNC ENSG00000039139 109 0 0 71 17 19.3182 GFRA3 0 genome.wustl.edu 37 5 137599951 137599951 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 137599951 137599951 A G SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.378 p.L126 0.997 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 90 0 0 69 10 12.6582 GFRA3 0 genome.wustl.edu 37 5 137599991 137599991 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 137599991 137599991 C T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.338 p.C113Y 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 85 0 0 73 10 12.0482 KDM3B 0 genome.wustl.edu 37 5 137708479 137708479 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 137708479 137708479 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known silent c.309 p.D103 0.979 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 67 0 0 55 8 12.6984 PCDHA7 0 genome.wustl.edu 37 5 140215698 140215698 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140215698 140215698 T C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1730 p.V577A 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 131 0 0 155 37 19.2708 PCDHA8 0 genome.wustl.edu 37 5 140222458 140222458 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140222458 140222458 T C SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1552 p.Y518H 0.904 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 PCDHA8 HGNC ENSG00000204962 171 0 0 273 57 17.2727 PCDHA11 0 genome.wustl.edu 37 5 140249249 140249249 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140249249 140249249 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.561 p.K187 0.000 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 PCDHA11 HGNC ENSG00000249158 86 0 0 71 5 6.57895 PCDHA12 0 genome.wustl.edu 37 5 140256404 140256404 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140256404 140256404 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1347 p.N449 0.986 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 PCDHA12 HGNC ENSG00000251664 182 0 0 222 52 18.9781 PCDHA12 0 genome.wustl.edu 37 5 140257030 140257030 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140257030 140257030 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1973 p.A658V 0.005 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 77 0 0 78 11 12.3596 PCDHAC2 0 genome.wustl.edu 37 5 140346798 140346798 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140346798 140346798 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.447 p.P149 0.994 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 34 0 0 58 13 18.3099 PCDHB2 0 genome.wustl.edu 37 5 140474496 140474496 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140474496 140474496 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.122 p.T41M 0.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 76 0 0 63 10 13.6986 PCDHB3 0 genome.wustl.edu 37 5 140480564 140480564 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140480564 140480564 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known nonsense c.331 p.Q111* 0.668 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 114 1 0.869565 83 24 22.4299 PCDHB3 0 genome.wustl.edu 37 5 140482112 140482112 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140482112 140482112 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1879 p.A627T 0.027 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 115 0 0 192 42 17.9487 ENSG00000255622 0 genome.wustl.edu 37 5 140536905 140536905 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140536905 140536905 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1329 p.S443 0.917 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 176 0 0 188 43 18.6147 PCDHB16 0 genome.wustl.edu 37 5 140564388 140564388 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140564388 140564388 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.2254 p.E752K 0.994 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 133 0 0 176 37 17.3709 PCDHB11 0 genome.wustl.edu 37 5 140580935 140580935 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140580935 140580935 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1588 p.R530C 0.000 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 PCDHB11 HGNC ENSG00000197479 150 0 0 182 49 21.2121 PCDHB12 0 genome.wustl.edu 37 5 140590609 140590609 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140590609 140590609 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.2130 p.A710 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 211 0 0 253 66 20.6897 PCDHB15 0 genome.wustl.edu 37 5 140626606 140626606 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140626606 140626606 C A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1460 p.T487N 0.949 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 PCDHB15 HGNC ENSG00000113248 166 0 0 207 44 17.5299 PCDHGB3 0 genome.wustl.edu 37 5 140751609 140751609 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140751609 140751609 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1648 p.V550M 0.035 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 PCDHGB3 HGNC ENSG00000262209 56 0 0 60 5 7.69231 PCDHGA7 0 genome.wustl.edu 37 5 140764749 140764749 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140764749 140764749 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.2283 p.A761 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 173 0 0 163 28 14.6597 PCDHGA9 0 genome.wustl.edu 37 5 140783914 140783914 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140783914 140783914 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known silent c.1395 p.N465 0.008 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 50 0 0 44 16 26.6667 PCDHGB8P 0 genome.wustl.edu 37 5 140807542 140807542 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140807542 140807542 C T SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.865 - - - no_errors PCDHGB8P HGNC ENSG00000248449 55 0 0 70 9 11.3924 PCDHGB8P 0 genome.wustl.edu 37 5 140807650 140807650 + RNA SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140807650 140807650 C A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 49 0 0 60 10 14.2857 PCDHGC5 0 genome.wustl.edu 37 5 140870540 140870540 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140870540 140870540 G A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.1733 p.R578H 0.998 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 71 0 0 76 15 16.4835 TRIO 0 genome.wustl.edu 37 5 14498708 14498708 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 14498708 14498708 A C SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.8291 p.D2764A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 126 0 0 123 29 19.0789 FBXO38 0 genome.wustl.edu 37 5 147778563 147778563 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 147778563 147778563 T C SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.130 p.Y44H 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 54 0 0 68 6 8.10811 GLRA1 0 genome.wustl.edu 37 5 151239373 151239373 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 151239373 151239373 C T SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 61 0 0 51 11 17.7419 RNF145 0 genome.wustl.edu 37 5 158586021 158586021 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 158586021 158586021 G A SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.1739 p.T580M 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 64 0 0 46 10 17.8571 CCNJL 0 genome.wustl.edu 37 5 159686753 159686753 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 159686753 159686753 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.450 p.H150 0.004 superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 86 0 0 84 20 19.2308 STK10 0 genome.wustl.edu 37 5 171488254 171488254 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 171488254 171488254 T G SNP STK10 ENST00000176763 human ensembl 74_37 -1 known missense c.2101 p.K701Q 0.924 pfam_PKK pfam_PKK,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 STK10 HGNC ENSG00000072786 149 0 0 147 25 14.5349 SH3PXD2B 0 genome.wustl.edu 37 5 171821626 171821626 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 171821626 171821626 G A SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known nonsense c.250 p.R84* 0.246 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 21 0 0 27 4 12.9032 DUSP1 0 genome.wustl.edu 37 5 172195896 172195896 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 172195896 172195896 C T SNP DUSP1 ENST00000239223 human ensembl 74_37 -1 known missense c.973 p.A325T 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 81 0 0 87 15 14.7059 CLTB 0 genome.wustl.edu 37 5 175824994 175824994 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 175824994 175824994 T C SNP CLTB ENST00000310418 human ensembl 74_37 -1 known missense c.289 p.T97A 0.999 pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C - no_errors CLTB HGNC ENSG00000175416 108 0 0 157 27 14.6739 PDLIM7 0 genome.wustl.edu 37 5 176916516 176916516 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 176916516 176916516 C T SNP PDLIM7 ENST00000356618 human ensembl 74_37 -1 known missense c.685 p.G229S 0.541 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 11 0 0 17 4 19.0476 HNRNPH1 0 genome.wustl.edu 37 5 179045188 179045188 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 179045188 179045188 C A SNP HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known nonsense c.673 p.G225* 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 159 0 0 136 23 14.4654 TBC1D9B 0 genome.wustl.edu 37 5 179290716 179290716 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 179290716 179290716 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3485 p.T1162M 0.947 NULL 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 96 0 0 117 19 13.9706 TBC1D9B 0 genome.wustl.edu 37 5 179305416 179305416 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 179305416 179305416 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1675 p.R559C 1.000 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,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 12 0 0 21 8 27.5862 C5orf42 0 genome.wustl.edu 37 5 37183092 37183092 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 37183092 37183092 C A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known nonsense c.5191 p.E1731* 0.726 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 87 0 0 48 11 18.6441 RICTOR 0 genome.wustl.edu 37 5 38960545 38960545 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 38960545 38960545 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known silent c.1806 p.T602 0.951 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 115 0 0 78 18 18.75 NIM1 0 genome.wustl.edu 37 5 43280418 43280418 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 43280418 43280418 C T SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known nonsense c.898 p.R300* 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 NIM1 Uniprot_gn ENSG00000177453 107 0 0 76 24 24 ADAMTS16 0 genome.wustl.edu 37 5 5232586 5232586 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 5232586 5232586 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1807 p.G603R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS 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 107 0 0 110 12 9.83607 ADAMTS16 0 genome.wustl.edu 37 5 5303727 5303727 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 5303727 5303727 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3034 p.A1012T 0.970 pfam_Thrombospondin_1_rpt,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 60 0 0 62 16 20.5128 ADAMTS16 0 genome.wustl.edu 37 5 5306762 5306762 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 5306762 5306762 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.3332 p.P1111L 0.015 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 47 0 0 38 6 13.6364 PDE4D 0 genome.wustl.edu 37 5 59284456 59284456 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 59284456 59284456 C T SNP PDE4D ENST00000502484 human ensembl 74_37 -1 known missense c.131 p.R44H 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 111 0 0 82 22 21.1538 HTR1A 0 genome.wustl.edu 37 5 63257400 63257400 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 63257400 63257400 G A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.147 p.C49 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 46 0 0 66 6 8.33333 CEP72 0 genome.wustl.edu 37 5 634017 634017 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 634017 634017 A G SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known missense c.646 p.S216G 0.002 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 125 0 0 136 29 17.5758 ZNF366 0 genome.wustl.edu 37 5 71756924 71756924 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 71756924 71756924 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.400 p.V134M 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 164 0 0 159 28 14.9733 GFM2 0 genome.wustl.edu 37 5 74034388 74034388 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 74034388 74034388 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known missense c.1159 p.R387C 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 74 0 0 67 11 14.1026 PDE8B 0 genome.wustl.edu 37 5 76704735 76704735 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 76704735 76704735 T C SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known silent c.1383 p.N461 0.974 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 79 0 0 74 12 13.9535 AP3B1 0 genome.wustl.edu 37 5 77563404 77563404 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 77563404 77563404 C A SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.144 p.K48N 0.999 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 32 0 0 21 3 12.5 MTRR 0 genome.wustl.edu 37 5 7900236 7900236 + RNA SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 7900236 7900236 A G SNP MTRR ENST00000506115 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MTRR HGNC ENSG00000124275 20 0 0 16 4 20 SEMA5A 0 genome.wustl.edu 37 5 9122806 9122806 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 9122806 9122806 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.1743 p.Q581 0.714 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 SEMA5A HGNC ENSG00000112902 75 0 0 70 27 27.8351 TTC37 0 genome.wustl.edu 37 5 94852450 94852450 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 94852450 94852450 A G SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.2441 p.L814P 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 41 0 0 18 7 28 PRDM13 0 genome.wustl.edu 37 6 100062567 100062567 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 100062567 100062567 G T SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.2056 p.V686L 1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 58 0 0 61 25 29.0698 SYCP2L 0 genome.wustl.edu 37 6 10961554 10961554 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 10961554 10961554 C T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.2272 p.R758C 0.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 49 0 0 35 5 12.5 NEDD9 0 genome.wustl.edu 37 6 11193859 11193859 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 11193859 11193859 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.526 p.V176I 0.995 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 64 0 0 46 10 17.8571 LAMA4 0 genome.wustl.edu 37 6 112493824 112493824 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 112493824 112493824 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1540 p.R514W 1.000 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 58 0 0 44 16 26.6667 FAM162B 0 genome.wustl.edu 37 6 117086316 117086316 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 117086316 117086316 C T SNP FAM162B ENST00000368557 human ensembl 74_37 -1 known missense c.275 p.R92Q 0.000 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 65 0 0 72 18 20 GOPC 0 genome.wustl.edu 37 6 117894635 117894635 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 117894635 117894635 C A SNP GOPC ENST00000368498 human ensembl 74_37 -1 known missense c.811 p.G271C 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 48 0 0 58 14 19.4444 CEP85L 0 genome.wustl.edu 37 6 118886986 118886986 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 118886986 118886986 G A SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.735 p.A245 0.997 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 101 0 0 80 23 22.3301 SERINC1 0 genome.wustl.edu 37 6 122768329 122768329 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 122768329 122768329 T G SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known missense c.932 p.Q311P 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 158 0 0 104 22 17.4603 STX7 0 genome.wustl.edu 37 6 132792740 132792740 + Splice_Site SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 132792740 132792740 C T SNP STX7 ENST00000367941 human ensembl 74_37 -1 known splice_site c.250-1 e4-1 1.000 - - - no_errors STX7 HGNC ENSG00000079950 101 0 0 68 16 19.0476 IL20RA 0 genome.wustl.edu 37 6 137329814 137329814 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 137329814 137329814 C T SNP IL20RA ENST00000316649 human ensembl 74_37 -1 known missense c.646 p.V216I 0.007 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 91 0 0 107 28 20.7407 HEBP2 0 genome.wustl.edu 37 6 138727266 138727266 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 138727266 138727266 G T SNP HEBP2 ENST00000607197 human ensembl 74_37 +1 known missense c.397 p.A133S 0.983 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 199 0 0 134 25 15.7233 RNF182 0 genome.wustl.edu 37 6 13977703 13977703 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 13977703 13977703 T C SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known missense c.353 p.L118P 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 59 0 0 54 13 19.403 HIVEP2 0 genome.wustl.edu 37 6 143094969 143094969 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 143094969 143094969 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.907 p.L303 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 90 0 0 71 11 13.4146 STX11 0 genome.wustl.edu 37 6 144507947 144507947 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 144507947 144507947 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known silent c.183 p.D61 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 21 0 0 42 11 20.7547 ULBP1 0 genome.wustl.edu 37 6 150290471 150290471 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 150290471 150290471 C T SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known silent c.600 p.Y200 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 121 0 0 108 20 15.625 SYNE1 0 genome.wustl.edu 37 6 152472791 152472791 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 152472791 152472791 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24347 p.A8116V 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 37 0 0 23 9 28.125 SYNE1 0 genome.wustl.edu 37 6 152560775 152560775 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 152560775 152560775 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.19960 p.F6654L 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 64 0 0 57 12 17.3913 WTAP 0 genome.wustl.edu 37 6 160176302 160176302 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 160176302 160176302 C T SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.850 p.R284C 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 60 0 0 60 13 17.8082 WTAP 0 genome.wustl.edu 37 6 160176303 160176303 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 160176303 160176303 G A SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.851 p.R284H 0.965 NULL NULL - no_errors WTAP HGNC ENSG00000146457 61 0 0 62 9 12.6761 PLG 0 genome.wustl.edu 37 6 161173964 161173964 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 161173964 161173964 G T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.2304 p.E768D 0.998 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 48 0 0 49 10 16.9492 DLL1 0 genome.wustl.edu 37 6 170597853 170597853 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 170597853 170597853 C T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.376 p.A126T 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 130 0 0 86 13 13.1313 TBP 0 genome.wustl.edu 37 6 170878836 170878836 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 170878836 170878836 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known missense c.814 p.G272S 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 37 0 0 25 4 13.7931 KAAG1 0 genome.wustl.edu 37 6 24358064 24358064 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 24358064 24358064 C T SNP KAAG1 ENST00000274766 human ensembl 74_37 +1 known missense c.197 p.A66V 0.000 NULL NULL - no_errors KAAG1 HGNC ENSG00000146049 34 0 0 63 21 25 TRIM26 0 genome.wustl.edu 37 6 30153714 30153714 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 30153714 30153714 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.1559 p.R520Q 0.002 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_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 32 0 0 35 8 18.6047 MDC1 0 genome.wustl.edu 37 6 30671952 30671952 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 30671952 30671952 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5008 p.V1670I 0.138 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 143 1 0.694444 127 23 15.3333 GTF2H4 0 genome.wustl.edu 37 6 30877746 30877746 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 30877746 30877746 C T SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known missense c.280 p.R94W 1.000 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 129 0 0 129 28 17.8344 BPHL 0 genome.wustl.edu 37 6 3127585 3127585 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 3127585 3127585 C T SNP BPHL ENST00000380379 human ensembl 74_37 +1 known silent c.321 p.R107 0.825 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors BPHL HGNC ENSG00000137274 132 0 0 93 21 18.4211 LY6G6F 0 genome.wustl.edu 37 6 31683367 31683367 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 31683367 31683367 G A SNP LY6G6F ENST00000556581 human ensembl 74_37 +1 known silent c.891 p.Q297 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY6G6F HGNC ENSG00000204424 73 0 0 52 8 13.3333 VWA7 0 genome.wustl.edu 37 6 31734394 31734394 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 31734394 31734394 G T SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.2030 p.P677H 0.796 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 49 0 0 55 6 9.83607 HSPA1L 0 genome.wustl.edu 37 6 31778622 31778622 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 31778622 31778622 C T SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.1128 p.A376 0.335 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 73 0 0 79 20 20.202 RNF5 0 genome.wustl.edu 37 6 32146317 32146317 + Missense_Mutation SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 32146317 32146317 G C SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.29 p.G10A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 28 0 0 46 4 8 NOTCH4 0 genome.wustl.edu 37 6 32166740 32166740 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 32166740 32166740 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4498 p.R1500C 0.929 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,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,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 172 0 0 180 43 19.2825 DAXX 0 genome.wustl.edu 37 6 33288764 33288764 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 33288764 33288764 C T SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.788 p.R263H 1.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 111 0 0 90 26 22.4138 ITPR3 0 genome.wustl.edu 37 6 33652577 33652577 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 33652577 33652577 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5164 p.A1722T 0.835 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 90 0 0 109 29 21.0145 ITPR3 0 genome.wustl.edu 37 6 33656440 33656440 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 33656440 33656440 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.6576 p.P2192 0.384 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 25 0 0 23 12 34.2857 ITPR3 0 genome.wustl.edu 37 6 33660616 33660616 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 33660616 33660616 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7570 p.R2524C 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 75 0 0 65 6 8.4507 PPARD 0 genome.wustl.edu 37 6 35389648 35389648 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 35389648 35389648 C T SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 59 0 0 72 11 13.253 TEAD3 0 genome.wustl.edu 37 6 35443481 35443481 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 35443481 35443481 G A SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel silent c.723 p.A241 0.480 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 87 0 0 90 19 17.4312 CPNE5 0 genome.wustl.edu 37 6 36714354 36714354 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 36714354 36714354 C A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known missense c.1019 p.G340V 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 43 0 0 43 11 20.3704 FAM50B 0 genome.wustl.edu 37 6 3850301 3850301 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 3850301 3850301 C T SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.256 p.R86W 0.982 NULL pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 19 0 0 25 4 13.7931 DAAM2 0 genome.wustl.edu 37 6 39835355 39835355 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 39835355 39835355 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known silent c.498 p.H166 0.181 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 109 1 0.909091 124 20 13.8889 GLTSCR1L 0 genome.wustl.edu 37 6 42796577 42796577 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 42796577 42796577 C T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.506 p.T169M 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 174 0 0 134 16 10.6667 PEX6 0 genome.wustl.edu 37 6 42942631 42942631 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 42942631 42942631 C T SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known missense c.1028 p.R343Q 0.796 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 128 0 0 123 24 16.3265 CUL7 0 genome.wustl.edu 37 6 43020028 43020028 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 43020028 43020028 T C SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.655 p.M219V 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 71 0 0 48 14 22.5806 SRF 0 genome.wustl.edu 37 6 43141756 43141756 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 43141756 43141756 G A SNP SRF ENST00000265354 human ensembl 74_37 +1 known missense c.685 p.D229N 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 67 0 0 61 11 15.2778 RSPH9 0 genome.wustl.edu 37 6 43612854 43612854 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 43612854 43612854 C A SNP RSPH9 ENST00000372165 human ensembl 74_37 +1 known missense c.19 p.L7M 0.419 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 42 0 0 43 17 28.3333 AARS2 0 genome.wustl.edu 37 6 44275066 44275066 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 44275066 44275066 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known silent c.960 p.A320 0.146 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 20 0 0 26 5 16.129 CLIC5 0 genome.wustl.edu 37 6 45922893 45922893 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 45922893 45922893 A G SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.629 p.V210A 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 55 0 0 53 9 14.5161 BAI3 0 genome.wustl.edu 37 6 69349254 69349254 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 69349254 69349254 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known nonsense c.687 p.C229* 1.000 NULL 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_CUB_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 BAI3 HGNC ENSG00000135298 52 0 0 34 6 15 RREB1 0 genome.wustl.edu 37 6 7230882 7230882 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 7230882 7230882 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2550 p.C850 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 21 0 0 28 5 15.1515 MYO6 0 genome.wustl.edu 37 6 76599952 76599952 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 76599952 76599952 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2837 p.R946H 0.459 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 64 0 0 41 8 16.3265 HTR1B 0 genome.wustl.edu 37 6 78172950 78172950 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 78172950 78172950 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.171 p.A57 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 198 0 0 169 32 15.9204 IBTK 0 genome.wustl.edu 37 6 82933168 82933168 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 82933168 82933168 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.1113 p.K371 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 43 0 0 44 9 16.9811 C6orf165 0 genome.wustl.edu 37 6 88126423 88126423 + Missense_Mutation SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 88126423 88126423 G C SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.509 p.G170A 0.784 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 34 0 0 30 4 11.7647 MDN1 0 genome.wustl.edu 37 6 90428228 90428228 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 90428228 90428228 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.6440 p.W2147* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 88 0 0 71 17 19.3182 MDN1 0 genome.wustl.edu 37 6 90428637 90428637 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 90428637 90428637 T G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.6170 p.Q2057P 1.000 superfamily_P-loop_NTPase,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 78 0 0 78 17 17.8947 MDN1 0 genome.wustl.edu 37 6 90453398 90453398 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 90453398 90453398 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4214 p.A1405V 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 113 0 0 85 14 14.1414 NYAP1 0 genome.wustl.edu 37 7 100086950 100086950 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 100086950 100086950 A C SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.1606 p.S536R 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 27 0 0 24 9 27.2727 MUC17 0 genome.wustl.edu 37 7 100687017 100687017 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 100687017 100687017 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12320 p.T4107M 0.022 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 114 0 0 100 18 15.2542 CUX1 0 genome.wustl.edu 37 7 101926330 101926330 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 101926330 101926330 A G SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1985 p.H662R 1.000 NULL pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 41 0 0 55 5 8.33333 POLR2J 0 genome.wustl.edu 37 7 102114856 102114856 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 102114856 102114856 G A SNP POLR2J ENST00000393794 human ensembl 74_37 -1 known silent c.270 p.A90 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer - no_errors POLR2J HGNC ENSG00000005075 151 0 0 150 25 14.2857 RELN 0 genome.wustl.edu 37 7 103130255 103130255 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 103130255 103130255 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9697 p.K3233E 1.000 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom 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 37 0 0 49 4 7.54717 PRKAR2B 0 genome.wustl.edu 37 7 106797730 106797730 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 106797730 106797730 G A SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.1084 p.A362T 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 35 0 0 29 9 23.6842 SLC26A4 0 genome.wustl.edu 37 7 107303783 107303783 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 107303783 107303783 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.207 p.V69 0.995 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 94 0 0 66 14 17.5 LAMB4 0 genome.wustl.edu 37 7 107703425 107703425 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 107703425 107703425 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3076 p.A1026T 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 36 0 0 35 7 16.6667 LAMB4 0 genome.wustl.edu 37 7 107706317 107706317 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 107706317 107706317 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.2726 p.R909H 0.145 pfam_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 119 0 0 82 16 16.3265 LRRN3 0 genome.wustl.edu 37 7 110763995 110763995 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 110763995 110763995 G A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1167 p.M389I 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 61 0 0 53 9 14.5161 C7orf60 0 genome.wustl.edu 37 7 112462157 112462157 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 112462157 112462157 G A SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known missense c.860 p.A287V 1.000 pfam_DUF3321 pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 84 0 0 54 17 23.9437 PPP1R3A 0 genome.wustl.edu 37 7 113519374 113519374 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 113519374 113519374 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known nonsense c.1773 p.W591* 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 130 0 0 99 13 11.6071 THSD7A 0 genome.wustl.edu 37 7 11675888 11675888 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 11675888 11675888 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.891 p.R297 0.619 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 96 0 0 99 12 10.8108 GRM8 0 genome.wustl.edu 37 7 126544078 126544078 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 126544078 126544078 C A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.966 p.E322D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 117 0 0 97 25 20.4918 FAM71F1 0 genome.wustl.edu 37 7 128359092 128359092 + Missense_Mutation SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 128359092 128359092 C G SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.642 p.H214Q 1.000 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 124 0 0 107 16 13.0081 FAM71F1 0 genome.wustl.edu 37 7 128370103 128370103 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 128370103 128370103 C A SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.1001 p.P334Q 0.958 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 119 0 0 141 20 12.4224 NRF1 0 genome.wustl.edu 37 7 129317486 129317486 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 129317486 129317486 C T SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.353 p.T118M 1.000 pfam_Nrf1_NLS/DNA-bd_dimer pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 91 0 0 76 14 15.5556 AKR1B1 0 genome.wustl.edu 37 7 134135550 134135550 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 134135550 134135550 C T SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known silent c.339 p.P113 0.000 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 AKR1B1 HGNC ENSG00000085662 39 0 0 52 11 17.4603 CHRM2 0 genome.wustl.edu 37 7 136700458 136700458 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 136700458 136700458 C T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.846 p.S282 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 66 0 0 45 10 18.1818 KIAA1549 0 genome.wustl.edu 37 7 138603675 138603675 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 138603675 138603675 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.697 p.R233W 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 130 0 0 119 27 18.4932 DENND2A 0 genome.wustl.edu 37 7 140301723 140301723 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 140301723 140301723 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.475 p.V159M 0.999 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 115 0 0 112 27 19.4245 EPHA1 0 genome.wustl.edu 37 7 143096874 143096874 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 143096874 143096874 C T SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.705 p.A235 0.040 pirsf_Tyr_kinase_ephrin_rcpt 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_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHA1 HGNC ENSG00000146904 27 0 0 23 6 20.6897 CNTNAP2 0 genome.wustl.edu 37 7 147675027 147675027 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 147675027 147675027 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2329 p.R777C 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 57 0 0 58 9 13.4328 CUL1 0 genome.wustl.edu 37 7 148454198 148454198 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 148454198 148454198 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.439 p.R147C 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 CUL1 HGNC ENSG00000055130 92 0 0 45 11 19.6429 KMT2C 0 genome.wustl.edu 37 7 151960144 151960144 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 151960144 151960144 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1256 p.Q419R 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger 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 91 0 0 59 10 14.4928 ITGB8 0 genome.wustl.edu 37 7 20449534 20449534 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 20449534 20449534 G A SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.2224 p.V742I 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 77 0 0 58 10 14.7059 ELMO1 0 genome.wustl.edu 37 7 36910077 36910077 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 36910077 36910077 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1826 p.P609L 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 63 0 0 49 8 14.0351 ELMO1 0 genome.wustl.edu 37 7 37136283 37136283 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 37136283 37136283 C T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1241 p.G414D 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 70 0 0 56 5 8.19672 SDK1 0 genome.wustl.edu 37 7 4051851 4051851 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 4051851 4051851 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2404 p.R802C 0.075 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 154 0 0 120 26 17.8082 C7orf10 0 genome.wustl.edu 37 7 40900113 40900113 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 40900113 40900113 C T SNP C7orf10 ENST00000464028 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C7orf10 HGNC ENSG00000175600 27 0 0 24 8 25 GLI3 0 genome.wustl.edu 37 7 42005555 42005555 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 42005555 42005555 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3116 p.A1039V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 28 0 0 64 8 11.1111 SDK1 0 genome.wustl.edu 37 7 4285315 4285315 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 4285315 4285315 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.6259 p.P2087S 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 54 0 0 45 6 11.7647 PSMA2 0 genome.wustl.edu 37 7 42957428 42957428 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 42957428 42957428 A G SNP PSMA2 ENST00000223321 human ensembl 74_37 -1 known silent c.537 p.N179 0.999 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA2 HGNC ENSG00000106588 61 0 0 31 10 24.3902 ADCY1 0 genome.wustl.edu 37 7 45699644 45699644 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 45699644 45699644 G T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1311 p.K437N 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 73 0 0 54 12 18.1818 IKZF1 0 genome.wustl.edu 37 7 50468038 50468038 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 50468038 50468038 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1273 p.G425R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 35 0 0 63 6 8.69565 TNRC18 0 genome.wustl.edu 37 7 5427330 5427330 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 5427330 5427330 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.2125 p.R709C 0.991 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 102 0 0 122 7 5.42636 LINC00174 0 genome.wustl.edu 37 7 65842408 65842408 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 65842408 65842408 C T SNP LINC00174 ENST00000421767 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors LINC00174 HGNC ENSG00000179406 10 0 0 6 4 40 WBSCR17 0 genome.wustl.edu 37 7 70853304 70853304 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 70853304 70853304 T C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.506 p.L169P 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 69 0 0 61 15 19.7368 POM121 0 genome.wustl.edu 37 7 72416706 72416706 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 72416706 72416706 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3683 p.A1228V 0.980 NULL NULL - no_errors POM121 HGNC ENSG00000196313 74 0 0 56 7 11.1111 BAZ1B 0 genome.wustl.edu 37 7 72892375 72892375 + Silent SNP A A T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 72892375 72892375 A T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.1416 p.P472 0.985 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 82 0 0 72 10 12.1951 ELN 0 genome.wustl.edu 37 7 73462021 73462021 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 73462021 73462021 C A SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.660 p.P220 1.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 113 0 0 80 16 16.6667 GTF2I 0 genome.wustl.edu 37 7 74129222 74129222 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 74129222 74129222 C T SNP GTF2I ENST00000324896 human ensembl 74_37 +1 known missense c.809 p.S270L 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 115 0 0 84 12 12.5 HIP1 0 genome.wustl.edu 37 7 75203108 75203108 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 75203108 75203108 G A SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.703 p.L235F 1.000 pfam_ANTH_dom,superfamily_ARM-type_fold pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 68 0 0 60 10 14.2857 ENSG00000228829 0 genome.wustl.edu 37 7 75804881 75804881 + RNA SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 75804881 75804881 G A SNP ENSG00000228829 ENST00000437494 human ensembl 74_37 +1 known rna NULL NULL 0.050 - - - no_errors AC005077.5 Clone_based_vega_gene ENSG00000228829 40 0 0 32 8 20 MIR489 0 genome.wustl.edu 37 7 93113314 93113314 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 93113314 93113314 C T SNP MIR489 ENST00000384923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR489 HGNC ENSG00000207656 70 0 0 49 16 24.6154 LMTK2 0 genome.wustl.edu 37 7 97822238 97822238 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 97822238 97822238 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.2461 p.E821K 0.000 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 LMTK2 HGNC ENSG00000164715 146 0 0 112 32 22.2222 TRRAP 0 genome.wustl.edu 37 7 98559064 98559064 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 98559064 98559064 T C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.6649 p.S2217P 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 98 0 0 87 16 15.534 STAG3 0 genome.wustl.edu 37 7 99796140 99796140 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 99796140 99796140 C T SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.1287 p.V429 0.996 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 92 0 0 103 6 5.50459 VPS13B 0 genome.wustl.edu 37 8 100148975 100148975 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 100148975 100148975 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.1646 p.G549D 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 118 0 0 96 13 11.9266 NCALD 0 genome.wustl.edu 37 8 102731539 102731539 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 102731539 102731539 T C SNP NCALD ENST00000311028 human ensembl 74_37 -1 known missense c.319 p.M107V 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 142 0 0 148 29 16.3842 ODF1 0 genome.wustl.edu 37 8 103564043 103564043 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 103564043 103564043 G A SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known missense c.88 p.E30K 0.979 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 148 1 0.671141 165 33 16.6667 RIMS2 0 genome.wustl.edu 37 8 105235928 105235928 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 105235928 105235928 C A SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known missense c.49 p.Q17K 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 17 0 0 29 8 21.6216 LRP12 0 genome.wustl.edu 37 8 105601048 105601048 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 105601048 105601048 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.78 p.Y26 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,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 13 0 0 30 5 14.2857 SOX7 0 genome.wustl.edu 37 8 10584161 10584161 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 10584161 10584161 G A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.410 p.A137V 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 30 0 0 48 9 15.7895 TMEM74 0 genome.wustl.edu 37 8 109796921 109796921 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 109796921 109796921 G T SNP TMEM74 ENST00000297459 human ensembl 74_37 -1 known missense c.407 p.P136H 0.002 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 72 0 0 89 14 13.5922 PKHD1L1 0 genome.wustl.edu 37 8 110439310 110439310 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 110439310 110439310 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.2925 p.T975 0.583 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 53 0 0 82 23 21.9048 PKHD1L1 0 genome.wustl.edu 37 8 110477120 110477120 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 110477120 110477120 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.8059 p.R2687 1.000 smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 86 0 0 77 21 21.4286 EXT1 0 genome.wustl.edu 37 8 118830694 118830694 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 118830694 118830694 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1612 p.V538I 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 129 0 0 167 32 16.0804 TRMT12 0 genome.wustl.edu 37 8 125464402 125464402 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 125464402 125464402 G A SNP TRMT12 ENST00000328599 human ensembl 74_37 +1 known missense c.1234 p.G412R 0.981 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 48 0 0 47 9 16.0714 POU5F1B 0 genome.wustl.edu 37 8 128429156 128429156 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 128429156 128429156 G A SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.1045 p.V349I 0.214 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 16 0 0 14 7 33.3333 GSDMC 0 genome.wustl.edu 37 8 130764944 130764944 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 130764944 130764944 C T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.844 p.E282K 0.009 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 43 0 0 46 7 13.2075 ST3GAL1 0 genome.wustl.edu 37 8 134472060 134472060 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 134472060 134472060 C T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.970 p.V324M 0.754 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 154 0 0 174 25 12.5628 ST3GAL1 0 genome.wustl.edu 37 8 134472082 134472082 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 134472082 134472082 G A SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known silent c.948 p.H316 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 168 0 0 192 26 11.9266 FAM135B 0 genome.wustl.edu 37 8 139164495 139164495 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 139164495 139164495 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.2223 p.S741 0.227 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 37 0 0 45 5 10 SLC45A4 0 genome.wustl.edu 37 8 142228396 142228396 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 142228396 142228396 A G SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1343 p.L448P 0.985 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 53 0 0 102 16 13.5593 TSNARE1 0 genome.wustl.edu 37 8 143412317 143412317 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 143412317 143412317 G A SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.838 p.R280W 0.630 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 35 0 0 55 8 12.6984 ZNF623 0 genome.wustl.edu 37 8 144732141 144732141 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 144732141 144732141 G A SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known silent c.99 p.T33 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 84 0 0 68 14 17.0732 EPPK1 0 genome.wustl.edu 37 8 144942153 144942153 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 144942153 144942153 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.5269 p.L1757 0.257 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 73 0 0 92 16 14.8148 PLEC 0 genome.wustl.edu 37 8 144993942 144993942 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 144993942 144993942 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.10458 p.T3486 0.134 smart_Plectin_repeat 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 70 0 0 84 13 13.4021 PLEC 0 genome.wustl.edu 37 8 144994298 144994298 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 144994298 144994298 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10102 p.R3368C 0.233 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 69 0 0 108 17 13.6 SLC39A4 0 genome.wustl.edu 37 8 145637935 145637935 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 145637935 145637935 T C SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.1931 p.D644G 0.002 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 185 0 0 189 32 14.4796 ARHGAP39 0 genome.wustl.edu 37 8 145763109 145763109 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 145763109 145763109 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.2610 p.P870 0.988 pfscan_MyTH4_dom 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 79 0 0 110 18 14.0625 TUSC3 0 genome.wustl.edu 37 8 15480617 15480617 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 15480617 15480617 T C SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.167 p.L56P 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 54 0 0 50 13 20.6349 SLC7A2 0 genome.wustl.edu 37 8 17401103 17401103 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 17401103 17401103 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.375 p.C125 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 77 0 0 73 13 15.1163 XPO7 0 genome.wustl.edu 37 8 21827021 21827021 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 21827021 21827021 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.193 p.T65A 1.000 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 XPO7 HGNC ENSG00000130227 29 0 0 32 4 11.1111 FGF17 0 genome.wustl.edu 37 8 21905676 21905676 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 21905676 21905676 C T SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known silent c.567 p.A189 0.049 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 27 0 0 45 8 15.0943 NUDT18 0 genome.wustl.edu 37 8 21965188 21965188 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 21965188 21965188 C T SNP NUDT18 ENST00000309188 human ensembl 74_37 -1 known missense c.595 p.A199T 0.021 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 44 0 0 69 14 16.8675 SLC39A14 0 genome.wustl.edu 37 8 22273425 22273425 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 22273425 22273425 G A SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known silent c.894 p.A298 0.013 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 130 0 0 156 23 12.8492 ADRA1A 0 genome.wustl.edu 37 8 26721669 26721669 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 26721669 26721669 G A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.818 p.T273M 1.000 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_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 32 0 0 54 9 14.2857 PTK2B 0 genome.wustl.edu 37 8 27293788 27293788 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 27293788 27293788 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.1264 p.R422C 0.992 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 163 0 0 170 34 16.6667 NRG1 0 genome.wustl.edu 37 8 32621514 32621514 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 32621514 32621514 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1541 p.A514V 0.038 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 64 0 0 79 14 15.0538 UNC5D 0 genome.wustl.edu 37 8 35647984 35647984 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 35647984 35647984 T G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2765 p.L922R 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain 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 79 0 0 73 18 19.7802 CHRNB3 0 genome.wustl.edu 37 8 42565570 42565570 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 42565570 42565570 T C SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.242 p.L81P 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 42 0 0 36 5 12.1951 PRKDC 0 genome.wustl.edu 37 8 48772214 48772214 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 48772214 48772214 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6162 p.S2054R 0.997 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 140 0 0 167 22 11.6402 RGS20 0 genome.wustl.edu 37 8 54791937 54791937 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 54791937 54791937 C T SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known silent c.285 p.P95 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 130 0 0 143 42 22.7027 TRIM55 0 genome.wustl.edu 37 8 67039509 67039509 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 67039509 67039509 C T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known silent c.6 p.S2 0.913 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 TRIM55 HGNC ENSG00000147573 70 0 0 81 10 10.989 CSPP1 0 genome.wustl.edu 37 8 68105705 68105705 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 68105705 68105705 A G SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.3322 p.S1108G 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 66 0 0 55 12 17.9104 PREX2 0 genome.wustl.edu 37 8 68864748 68864748 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 68864748 68864748 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.119 p.G40D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 23 0 0 31 6 16.2162 PREX2 0 genome.wustl.edu 37 8 68972999 68972999 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 68972999 68972999 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1324 p.G442R 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 61 0 0 54 23 29.8701 SULF1 0 genome.wustl.edu 37 8 70533371 70533371 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 70533371 70533371 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1479 p.Y493 0.998 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 68 0 0 84 16 16 NCOA2 0 genome.wustl.edu 37 8 71036947 71036947 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 71036947 71036947 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.4070 p.A1357V 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 50 0 0 54 7 11.4754 ZFHX4 0 genome.wustl.edu 37 8 77618450 77618450 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 77618450 77618450 T C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.2127 p.T709 1.000 smart_Znf_U1,smart_Znf_C2H2-like 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 40 0 0 44 4 8.33333 ZFHX4 0 genome.wustl.edu 37 8 77767199 77767199 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 77767199 77767199 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8042 p.R2681Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 60 0 0 99 6 5.71429 FAM86B3P 0 genome.wustl.edu 37 8 8098832 8098832 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 8098832 8098832 C T SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors FAM86B3P HGNC ENSG00000173295 22 0 0 29 8 21.6216 TNKS 0 genome.wustl.edu 37 8 9564436 9564436 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 9564436 9564436 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.1385 p.T462I 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_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 28 0 0 46 6 11.5385 ESRP1 0 genome.wustl.edu 37 8 95690487 95690487 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 95690487 95690487 G A SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1708 p.A570T 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 53 0 0 51 7 12.069 PLEKHF2 0 genome.wustl.edu 37 8 96166659 96166659 + Missense_Mutation SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 96166659 96166659 T G SNP PLEKHF2 ENST00000315367 human ensembl 74_37 +1 known missense c.387 p.C129W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 119 0 0 93 25 21.1864 GDF6 0 genome.wustl.edu 37 8 97157634 97157634 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 97157634 97157634 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known silent c.525 p.A175 0.481 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 10 0 0 9 3 25 TSPYL5 0 genome.wustl.edu 37 8 98289667 98289667 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 98289667 98289667 G T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.406 p.P136T 0.059 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 62 0 0 73 15 17.0455 GALNT12 0 genome.wustl.edu 37 9 101602364 101602364 + Silent SNP T T G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 101602364 101602364 T G SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known silent c.1293 p.T431 0.963 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 145 0 0 124 22 15.0685 COL15A1 0 genome.wustl.edu 37 9 101810227 101810227 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 101810227 101810227 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.2738 p.R913H 1.000 pfam_Collagen,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 29 0 0 31 10 24.3902 PPP3R2 0 genome.wustl.edu 37 9 104357179 104357179 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 104357179 104357179 C T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known missense c.34 p.A12T 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 95 0 0 94 18 16.0714 KLF4 0 genome.wustl.edu 37 9 110250239 110250239 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 110250239 110250239 A C SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.436 p.S146A 0.871 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 8 0 0 4 3 42.8571 ACTL7B 0 genome.wustl.edu 37 9 111617074 111617074 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 111617074 111617074 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.1137 p.S379 0.360 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 77 0 0 92 21 18.5841 IKBKAP 0 genome.wustl.edu 37 9 111656285 111656285 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 111656285 111656285 C A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2798 p.R933L 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 40 0 0 19 3 13.6364 CTNNAL1 0 genome.wustl.edu 37 9 111705293 111705293 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 111705293 111705293 A G SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known missense c.2087 p.M696T 1.000 superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 36 0 0 21 5 19.2308 PTPN3 0 genome.wustl.edu 37 9 112199206 112199206 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 112199206 112199206 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.632 p.A211V 0.994 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,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,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 66 0 0 36 6 14.2857 KIAA1958 0 genome.wustl.edu 37 9 115421571 115421571 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 115421571 115421571 T A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1457 p.L486H 0.987 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 89 0 0 102 19 15.7025 CDC26 0 genome.wustl.edu 37 9 116029574 116029574 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 116029574 116029574 C T SNP CDC26 ENST00000374206 human ensembl 74_37 -1 known missense c.227 p.R76H 0.998 pfam_APC_suCDC26 pfam_APC_suCDC26 - no_errors CDC26 HGNC ENSG00000176386 57 0 0 42 10 19.2308 AKNA 0 genome.wustl.edu 37 9 117124787 117124787 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 117124787 117124787 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.1815 p.H605 0.414 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 24 0 0 15 5 25 TNC 0 genome.wustl.edu 37 9 117808794 117808794 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 117808794 117808794 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.5020 p.T1674A 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 TNC HGNC ENSG00000041982 150 0 0 127 36 22.0859 ASTN2 0 genome.wustl.edu 37 9 119739005 119739005 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 119739005 119739005 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1651 p.R551C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 72 0 0 67 9 11.8421 CDK5RAP2 0 genome.wustl.edu 37 9 123292371 123292371 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 123292371 123292371 A G SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.710 p.I237T 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 103 0 0 82 12 12.766 MVB12B 0 genome.wustl.edu 37 9 129157978 129157978 + Splice_Site SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 129157978 129157978 T C SNP MVB12B ENST00000361171 human ensembl 74_37 +1 known splice_site c.662+2 e6+2 1.000 - - - no_errors MVB12B HGNC ENSG00000196814 113 0 0 108 21 16.2791 SLC2A8 0 genome.wustl.edu 37 9 130165962 130165962 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 130165962 130165962 G A SNP SLC2A8 ENST00000373371 human ensembl 74_37 +1 known silent c.747 p.R249 0.962 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 58 0 0 62 13 17.3333 SLC25A25 0 genome.wustl.edu 37 9 130869723 130869723 + Nonstop_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 130869723 130869723 A G SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known nonstop c.1548 p.*516W 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 117 1 0.847458 120 27 18.3673 SLC27A4 0 genome.wustl.edu 37 9 131122642 131122642 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 131122642 131122642 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.1804 p.R602W 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 132 0 0 106 24 18.4615 SET 0 genome.wustl.edu 37 9 131454979 131454979 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 131454979 131454979 C T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.352 p.H118Y 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 62 0 0 48 9 15.7895 LAMC3 0 genome.wustl.edu 37 9 133914404 133914404 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 133914404 133914404 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.1130 p.R377Q 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,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 LAMC3 HGNC ENSG00000050555 55 0 0 43 15 25.8621 TTF1 0 genome.wustl.edu 37 9 135271838 135271838 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 135271838 135271838 A G SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1838 p.V613A 0.993 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 42 0 0 32 10 23.8095 DDX31 0 genome.wustl.edu 37 9 135493777 135493777 + Nonsense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 135493777 135493777 G A SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known nonsense c.2080 p.Q694* 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 DDX31 HGNC ENSG00000125485 97 0 0 98 14 12.5 RALGDS 0 genome.wustl.edu 37 9 135984212 135984212 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 135984212 135984212 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.839 p.S280L 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 24 0 0 29 2 6.45161 ABCA2 0 genome.wustl.edu 37 9 139903448 139903448 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 139903448 139903448 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known silent c.6885 p.D2295 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 40 0 0 40 10 20 TPRN 0 genome.wustl.edu 37 9 140087050 140087050 + Missense_Mutation SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 140087050 140087050 C G SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1819 p.E607Q 0.014 NULL NULL - no_errors TPRN HGNC ENSG00000176058 44 0 0 24 11 31.4286 TPRN 0 genome.wustl.edu 37 9 140093702 140093702 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 140093702 140093702 C T SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1462 p.G488R 0.001 NULL NULL - no_errors TPRN HGNC ENSG00000176058 63 0 0 60 9 13.0435 EHMT1 0 genome.wustl.edu 37 9 140669655 140669655 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 140669655 140669655 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.1742 p.R581H 1.000 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 EHMT1 HGNC ENSG00000181090 53 0 0 59 11 15.7143 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 168 0 0 145 10 6.45161 BNC2 0 genome.wustl.edu 37 9 16419583 16419583 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 16419583 16419583 C A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2704 p.D902Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 106 0 0 102 17 14.2857 ACER2 0 genome.wustl.edu 37 9 19446317 19446317 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 19446317 19446317 C T SNP ACER2 ENST00000340967 human ensembl 74_37 +1 known missense c.542 p.S181L 1.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER2 HGNC ENSG00000177076 136 0 0 140 30 17.6471 PRSS3 0 genome.wustl.edu 37 9 33799074 33799074 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 33799074 33799074 G T SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known missense c.811 p.V271F 0.998 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 PRSS3 HGNC ENSG00000010438 115 0 0 115 20 14.8148 KIAA1161 0 genome.wustl.edu 37 9 34371332 34371332 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 34371332 34371332 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1508 p.A503V 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 26 0 0 35 9 20.4545 KIAA1045 0 genome.wustl.edu 37 9 34971465 34971465 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 34971465 34971465 A G SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.170 p.E57G 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 75 0 0 121 10 7.63359 FANCG 0 genome.wustl.edu 37 9 35079503 35079503 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 35079503 35079503 A C SNP FANCG ENST00000378643 human ensembl 74_37 -1 known missense c.19 p.S7A 0.000 NULL superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 78 0 0 92 25 21.3675 OR13J1 0 genome.wustl.edu 37 9 35869820 35869820 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 35869820 35869820 C T SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known silent c.579 p.S193 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 52 0 0 61 10 14.0845 CNTNAP3 0 genome.wustl.edu 37 9 39171366 39171366 + Missense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 39171366 39171366 C A SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1333 p.G445C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 178 0 0 120 30 20 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 82 0 0 67 8 10.6667 ALDH1A1 0 genome.wustl.edu 37 9 75545879 75545879 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 75545879 75545879 C T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known silent c.228 p.P76 0.961 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 68 0 0 73 11 13.0952 NMRK1 0 genome.wustl.edu 37 9 77697922 77697922 + RNA SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 77697922 77697922 C T SNP NMRK1 ENST00000466137 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors NMRK1 HGNC ENSG00000106733 22 0 0 12 3 20 PCSK5 0 genome.wustl.edu 37 9 78686670 78686670 + Silent SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 78686670 78686670 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.750 p.T250 0.006 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 150 0 0 145 29 16.6667 SPATA31D5P 0 genome.wustl.edu 37 9 84530387 84530387 + RNA SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 84530387 84530387 C A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors SPATA31D5P HGNC ENSG00000240632 17 0 0 33 8 19.5122 UBQLN1 0 genome.wustl.edu 37 9 86292653 86292653 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 86292653 86292653 G T SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.1094 p.P365H 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 37 0 0 42 6 12.5 S1PR3 0 genome.wustl.edu 37 9 91616794 91616794 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 91616794 91616794 C T SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known missense c.679 p.R227C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_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 82 0 0 65 19 22.619 IARS 0 genome.wustl.edu 37 9 95043054 95043054 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 95043054 95043054 G A SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.719 p.P240L 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 56 0 0 29 6 17.1429 FGD3 0 genome.wustl.edu 37 9 95768325 95768325 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 95768325 95768325 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.700 p.G234R 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 FGD3 HGNC ENSG00000127084 135 0 0 136 34 20 XKRX 0 genome.wustl.edu 37 X 100183284 100183284 + Missense_Mutation SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 100183284 100183284 C G SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.49 p.V17L 1.000 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 263 0 0 218 37 14.5098 IL1RAPL2 0 genome.wustl.edu 37 X 104984565 104984565 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 104984565 104984565 A C SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.929 p.K310T 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 113 0 0 80 15 15.7895 IRS4 0 genome.wustl.edu 37 X 107976159 107976159 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 107976159 107976159 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3416 p.A1139V 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 112 0 0 165 48 22.5352 KIAA1210 0 genome.wustl.edu 37 X 118223525 118223525 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 118223525 118223525 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.1668 p.S556 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 190 0 0 182 31 14.554 AKAP14 0 genome.wustl.edu 37 X 119053878 119053878 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 119053878 119053878 C T SNP AKAP14 ENST00000371431 human ensembl 74_37 +1 known missense c.446 p.A149V 0.000 NULL NULL - no_errors AKAP14 HGNC ENSG00000186471 108 0 0 80 14 14.8936 RHOXF2 0 genome.wustl.edu 37 X 119293200 119293200 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 119293200 119293200 G A SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known missense c.359 p.R120H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 19 0 0 26 9 25.7143 TENM1 0 genome.wustl.edu 37 X 123556188 123556188 + Missense_Mutation SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 123556188 123556188 A G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4405 p.Y1469H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 131 0 0 112 31 21.6783 TLR7 0 genome.wustl.edu 37 X 12906073 12906073 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 12906073 12906073 G T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known missense c.2446 p.G816W 0.361 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 136 0 0 108 15 12.1951 MBNL3 0 genome.wustl.edu 37 X 131524939 131524939 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 131524939 131524939 G A SNP MBNL3 ENST00000370853 human ensembl 74_37 -1 known missense c.707 p.A236V 1.000 NULL smart_Znf_CCCH - no_errors MBNL3 HGNC ENSG00000076770 113 0 0 92 16 14.8148 MBNL3 0 genome.wustl.edu 37 X 131540407 131540407 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 131540407 131540407 C T SNP MBNL3 ENST00000370853 human ensembl 74_37 -1 known missense c.191 p.R64Q 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL3 HGNC ENSG00000076770 50 0 0 58 19 24.6753 MTMR1 0 genome.wustl.edu 37 X 149919511 149919511 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 149919511 149919511 G A SNP MTMR1 ENST00000451863 human ensembl 74_37 +1 known missense c.1666 p.A556T 0.005 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 16 0 0 13 5 27.7778 ATP2B3 0 genome.wustl.edu 37 X 152818528 152818528 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 152818528 152818528 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1859 p.R620Q 0.973 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 ATP2B3 HGNC ENSG00000067842 58 0 0 83 6 6.74157 ASB11 0 genome.wustl.edu 37 X 15306058 15306058 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 15306058 15306058 C T SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known silent c.792 p.A264 0.006 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 84 0 0 78 13 14.2857 F8 0 genome.wustl.edu 37 X 154091411 154091411 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 154091411 154091411 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.6521 p.H2174R 0.280 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom 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 128 0 0 68 21 23.5955 F8 0 genome.wustl.edu 37 X 154194217 154194217 + RNA SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 154194217 154194217 C A SNP F8 ENST00000483822 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors F8 HGNC ENSG00000185010 76 0 0 54 13 19.403 BEND2 0 genome.wustl.edu 37 X 18198717 18198717 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 18198717 18198717 C T SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.1342 p.V448I 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 100 0 0 82 21 20.3883 SCML2 0 genome.wustl.edu 37 X 18274983 18274983 + Missense_Mutation SNP C C G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 18274983 18274983 C G SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known missense c.1441 p.D481H 0.143 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 137 0 0 103 18 14.876 DHRSX 0 genome.wustl.edu 37 X 2139163 2139163 + Silent SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 2139163 2139163 G A SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known silent c.912 p.H304 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 121 0 0 108 21 16.2791 PTCHD1 0 genome.wustl.edu 37 X 23353224 23353224 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 23353224 23353224 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.232 p.R78C 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 62 0 0 69 17 19.7674 MXRA5 0 genome.wustl.edu 37 X 3235238 3235238 + Nonsense_Mutation SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 3235238 3235238 C A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known nonsense c.6484 p.G2162* 0.163 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 31 0 0 26 7 21.2121 CXorf22 0 genome.wustl.edu 37 X 36007458 36007458 + Silent SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 36007458 36007458 A C SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.2736 p.S912 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 51 0 0 26 5 16.129 ZNF182 0 genome.wustl.edu 37 X 47836703 47836703 + Silent SNP A A G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 47836703 47836703 A G SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known silent c.783 p.P261 0.637 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 ZNF182 HGNC ENSG00000147118 106 0 0 59 16 21.3333 ZNF182 0 genome.wustl.edu 37 X 47837005 47837005 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 47837005 47837005 C T SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.481 p.E161K 0.100 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 ZNF182 HGNC ENSG00000147118 60 0 0 32 15 31.9149 AKAP4 0 genome.wustl.edu 37 X 49958568 49958568 + Missense_Mutation SNP G G C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 49958568 49958568 G C SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.796 p.P266A 0.578 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 92 0 0 76 9 10.5882 PHF8 0 genome.wustl.edu 37 X 53966872 53966872 + Missense_Mutation SNP T T A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 53966872 53966872 T A SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.2835 p.Q945H 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 PHF8 HGNC ENSG00000172943 28 0 0 22 4 15.3846 GNL3L 0 genome.wustl.edu 37 X 54585017 54585017 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 54585017 54585017 C T SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.1595 p.T532M 0.931 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 36 0 0 43 5 10.4167 APEX2 0 genome.wustl.edu 37 X 55026949 55026949 + Missense_Mutation SNP G G A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 55026949 55026949 G A SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.94 p.V32M 0.007 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 28 0 0 27 3 10 FAAH2 0 genome.wustl.edu 37 X 57318993 57318993 + Silent SNP C C A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 57318993 57318993 C A SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known silent c.255 p.I85 1.000 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 110 0 0 61 14 18.6667 SPIN4 0 genome.wustl.edu 37 X 62570006 62570006 + Missense_Mutation SNP G G T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 62570006 62570006 G T SNP SPIN4 ENST00000335144 human ensembl 74_37 -1 known missense c.693 p.F231L 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN4 HGNC ENSG00000186767 81 0 0 77 18 18.9474 HEPH 0 genome.wustl.edu 37 X 65423338 65423338 + Missense_Mutation SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 65423338 65423338 T C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2372 p.I791T 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 58 0 0 49 4 7.54717 MED12 0 genome.wustl.edu 37 X 70356310 70356310 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 70356310 70356310 C T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.5205 p.R1735 0.007 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 48 0 0 32 7 17.9487 NLGN3 0 genome.wustl.edu 37 X 70367958 70367958 + Missense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 70367958 70367958 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.359 p.P120L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 70 0 0 75 18 19.3548 LPAR4 0 genome.wustl.edu 37 X 78010799 78010799 + Nonsense_Mutation SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 78010799 78010799 C T SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known nonsense c.433 p.R145* 1.000 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_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 118 0 0 89 21 19.0909 CYLC1 0 genome.wustl.edu 37 X 83128372 83128372 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 83128372 83128372 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.656 p.N219T 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 29 0 0 16 5 23.8095 DACH2 0 genome.wustl.edu 37 X 85404095 85404095 + Silent SNP C C T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 85404095 85404095 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.471 p.T157 0.975 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 46 0 0 46 8 14.8148 TGIF2LX 0 genome.wustl.edu 37 X 89177210 89177210 + Missense_Mutation SNP A A C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 89177210 89177210 A C SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.126 p.R42S 0.017 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 61 0 0 62 16 20.5128 SYTL4 0 genome.wustl.edu 37 X 99943432 99943432 + Silent SNP T T C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 99943432 99943432 T C SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known silent c.927 p.E309 0.801 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 37 0 0 28 8 22.2222 HIAT1 0 genome.wustl.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 100534122 100534122 T - DEL HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_del c.799 p.L269fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 114 0 0 69 10 12.6582 AMY2B 0 genome.wustl.edu 37 1 104112876 104112876 + RNA DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 104112876 104112876 C - DEL AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 38 0 0 33 5 13.1579 ATXN7L2 0 genome.wustl.edu 37 1 110035319 110035319 + RNA DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 110035319 110035319 T - DEL ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 34 0 0 51 12 19.0476 SLC16A4 0 genome.wustl.edu 37 1 110906427 110906427 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 110906427 110906427 A - DEL SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_del c.1425 p.F475fs 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 SLC16A4 HGNC ENSG00000168679 66 0 0 40 27 40.2985 CEPT1 0 genome.wustl.edu 37 1 111690320 111690320 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 111690320 111690320 A - DEL CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 32 0 0 26 6 18.75 SYCP1 0 genome.wustl.edu 37 1 115469133 115469134 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 115469133 115469134 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.1875_1876 p.G628fs 0.992:1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 22 0 0 11 2 15.3846 ADAM30 0 genome.wustl.edu 37 1 120437094 120437095 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 120437094 120437095 - T INS ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_ins c.1866_1865 p.N622fs 0.003:0.000 smart_ADAM_Cys-rich 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 88 0 0 75 14 15.7303 AADACL3 0 genome.wustl.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 12785494 12785494 G - DEL AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_del c.584 p.C195fs 0.040 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 210 0 0 156 19 10.8571 ADAMTSL4 0 genome.wustl.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 150530506 150530506 G - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2332 p.G780fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,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 103 0 0 162 29 15.1832 LYSMD1 0 genome.wustl.edu 37 1 151134215 151134215 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 151134215 151134215 T - DEL LYSMD1 ENST00000368908 human ensembl 74_37 -1 known frame_shift_del c.542 p.N181fs 0.030 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD1 HGNC ENSG00000163155 147 0 0 152 26 14.6067 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 125 0 0 102 16 13.5593 ATP1A4 0 genome.wustl.edu 37 1 160124898 160124898 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 160124898 160124898 C - DEL ATP1A4 ENST00000368081 human ensembl 74_37 +1 known frame_shift_del c.271 p.T93fs 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 124 1 0.8 96 19 16.5217 ADCY10 0 genome.wustl.edu 37 1 167865906 167865906 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 167865906 167865906 G - DEL ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_del c.666 p.N223fs 0.005 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 198 0 0 109 32 22.695 SEC16B 0 genome.wustl.edu 37 1 177927333 177927333 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 177927333 177927333 G - DEL SEC16B ENST00000308284 human ensembl 74_37 -1 known frame_shift_del c.1299 p.S434fs 0.033 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 45 0 0 41 7 14.5833 NCF2 0 genome.wustl.edu 37 1 183533129 183533129 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 183533129 183533129 A - DEL NCF2 ENST00000469280 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors NCF2 HGNC ENSG00000116701 233 0 0 153 15 8.92857 HMCN1 0 genome.wustl.edu 37 1 185897784 185897784 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 185897784 185897784 T - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.1537 p.F514fs 0.999 smart_Ig_sub,pfscan_Ig-like_dom 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 138 0 0 108 20 15.625 ASPM 0 genome.wustl.edu 37 1 197070524 197070524 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 197070524 197070524 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.7857 p.K2619fs 0.001 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 24 0 0 15 3 16.6667 PLEKHA6 0 genome.wustl.edu 37 1 204228512 204228512 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 204228512 204228512 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.881 p.G294fs 0.453 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 143 0 0 135 20 12.9032 LRRN2 0 genome.wustl.edu 37 1 204587829 204587829 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 35 0 0 37 7 15.9091 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 146 0 0 126 16 11.2676 TGFB2 0 genome.wustl.edu 37 1 218609371 218609371 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 218609371 218609371 A - DEL TGFB2 ENST00000366929 human ensembl 74_37 +1 known frame_shift_del c.898 p.N302fs 1.000 pirsf_TGF-beta,prints_TGFb2 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 53 0 0 69 10 12.6582 TP53BP2 0 genome.wustl.edu 37 1 223991931 223991931 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 223991931 223991931 T - DEL TP53BP2 ENST00000343537 human ensembl 74_37 -1 known frame_shift_del c.594 p.V199fs 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 188 0 0 166 27 13.9896 TMEM63A 0 genome.wustl.edu 37 1 226034781 226034788 + Frame_Shift_Del DEL CTCTGCGC CTCTGCGC - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTCTGCGC CTCTGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 226034781 226034788 CTCTGCGC - DEL TMEM63A ENST00000366835 human ensembl 74_37 -1 known frame_shift_del c.2384_2377 p.A793fs 0.000:0.001:0.002:0.004:0.006:0.000:0.002:0.003 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 115 0 0 112 19 14.5038 ACBD3 0 genome.wustl.edu 37 1 226352491 226352491 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 226352491 226352491 T - DEL ACBD3 ENST00000366812 human ensembl 74_37 -1 known frame_shift_del c.568 p.R190fs 1.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 74 0 0 37 9 19.5652 JMJD4 0 genome.wustl.edu 37 1 227921298 227921299 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 227921298 227921299 - G INS JMJD4 ENST00000366758 human ensembl 74_37 -1 known frame_shift_ins c.777_776 p.G260fs 0.134:0.995 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 37 0 0 36 7 16.2791 GREM2 0 genome.wustl.edu 37 1 240656607 240656613 + Frame_Shift_Del DEL GGCTGGA GGCTGGA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GGCTGGA GGCTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 240656607 240656613 GGCTGGA - DEL GREM2 ENST00000318160 human ensembl 74_37 -1 known frame_shift_del c.169_163 p.S55fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_DAN,pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 67 0 0 73 11 13.0952 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 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 OR14C36 HGNC ENSG00000177174 58 0 0 61 11 15.2778 OR2G6 0 genome.wustl.edu 37 1 248685798 248685798 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 248685798 248685798 T - DEL OR2G6 ENST00000343414 human ensembl 74_37 +1 known frame_shift_del c.851 p.L285fs 0.187 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 OR2G6 HGNC ENSG00000188558 58 0 0 44 7 13.7255 ARID1A 0 genome.wustl.edu 37 1 27097751 27097751 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 27097751 27097751 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3340 p.P1115fs 1.000 superfamily_ARID/BRIGHT_DNA-bd 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 67 0 0 60 9 13.0435 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 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 123 0 0 132 8 5.71429 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 18 0 0 11 6 35.2941 ZMYM4 0 genome.wustl.edu 37 1 35825031 35825031 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 35825031 35825031 T - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.591 p.F199fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 32 0 0 28 8 22.2222 ZMYM4 0 genome.wustl.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 35846959 35846960 - A INS ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_ins c.1281_1282 p.P430fs 0.987:1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 65 0 0 51 6 10.5263 TRIT1 0 genome.wustl.edu 37 1 40307382 40307384 + RNA DEL CCA CCA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 40307382 40307384 CCA - DEL TRIT1 ENST00000491865 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors TRIT1 HGNC ENSG00000043514 304 0 0 262 29 9.96564 SLC5A9 0 genome.wustl.edu 37 1 48698101 48698101 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 50 0 0 46 6 11.5385 SPATA6 0 genome.wustl.edu 37 1 48821382 48821382 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 48821382 48821382 T - DEL SPATA6 ENST00000371847 human ensembl 74_37 -1 known frame_shift_del c.1154 p.N385fs 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 87 0 0 66 7 9.58904 DMRTB1 0 genome.wustl.edu 37 1 53930350 53930351 + In_Frame_Ins INS - - GCCGCC TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 53930350 53930351 - GCCGCC INS DMRTB1 ENST00000371445 human ensembl 74_37 +1 known in_frame_ins c.791_792 p.268in_frame_insPP 0.012:0.001 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 49 0 0 71 7 8.97436 USP1 0 genome.wustl.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 58 0 0 35 15 30 C1orf173 0 genome.wustl.edu 37 1 75072496 75072498 + In_Frame_Del DEL CTT CTT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 75072496 75072498 CTT - DEL C1orf173 ENST00000326665 human ensembl 74_37 -1 known in_frame_del c.1278_1276 p.K426in_frame_del 0.000:0.029:0.027 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 143 0 0 113 19 14.3939 LPAR3 0 genome.wustl.edu 37 1 85331665 85331665 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 85331665 85331665 A - DEL LPAR3 ENST00000370611 human ensembl 74_37 -1 known frame_shift_del c.139 p.S47fs 1.000 pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 102 1 0.970874 105 19 15.3226 AGRN 0 genome.wustl.edu 37 1 981861 981861 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 1 981861 981861 C - DEL AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_del c.2996 p.G1002fs 0.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 20 0 0 29 6 17.1429 PDCD11 0 genome.wustl.edu 37 10 105173019 105173019 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 105173019 105173019 T - DEL PDCD11 ENST00000369797 human ensembl 74_37 +1 known frame_shift_del c.1125 p.F377fs 0.915 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 101 0 0 87 6 6.45161 TCF7L2 0 genome.wustl.edu 37 10 114849205 114849206 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 114849205 114849206 - C INS TCF7L2 ENST00000355717 human ensembl 74_37 +1 known frame_shift_ins c.530_531 p.S180fs 0.998:1.000 pfam_CTNNB1-bd_N 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 55 0 0 53 6 10.1695 CPXM2 0 genome.wustl.edu 37 10 125514247 125514248 + Frame_Shift_Del DEL TC TC - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 125514247 125514248 TC - DEL CPXM2 ENST00000241305 human ensembl 74_37 -1 known frame_shift_del c.1949_1948 p.D650fs 0.998:1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 149 0 0 112 18 13.8462 MKI67 0 genome.wustl.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 129913974 129913974 T - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.698 p.N233fs 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 59 0 0 35 9 20.4545 TTC40 0 genome.wustl.edu 37 10 134752167 134752167 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 134752167 134752167 G - DEL TTC40 ENST00000368582 human ensembl 74_37 -1 known frame_shift_del c.462 p.S155fs 1.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 125 0 0 102 24 19.0476 DLG5 0 genome.wustl.edu 37 10 79601948 79601948 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 79601948 79601948 A - DEL DLG5 ENST00000372391 human ensembl 74_37 -1 known frame_shift_del c.1128 p.F376fs 0.941 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 94 0 0 99 20 16.8067 GATA3 0 genome.wustl.edu 37 10 8100425 8100425 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 8100425 8100425 C - DEL GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_del c.399 p.P135fs 0.942 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 139 0 0 165 24 12.6984 TMEM254 0 genome.wustl.edu 37 10 81850718 81850719 + RNA INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 81850718 81850719 - T INS TMEM254 ENST00000463029 human ensembl 74_37 +1 known rna NULL NULL 0.070:0.071 - - - no_errors TMEM254 HGNC ENSG00000133678 68 0 0 59 13 18.0556 BTAF1 0 genome.wustl.edu 37 10 93756247 93756247 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 70 0 0 51 10 16.3934 PIK3AP1 0 genome.wustl.edu 37 10 98469337 98469337 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 98469337 98469337 T - DEL PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known frame_shift_del c.417 p.A140fs 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 121 0 0 116 23 16.5468 MMS19 0 genome.wustl.edu 37 10 99229436 99229437 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 10 99229436 99229437 - A INS MMS19 ENST00000370782 human ensembl 74_37 -1 known frame_shift_ins c.891_890 p.L298fs 1.000:1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 43 0 0 41 9 18 ACAT1 0 genome.wustl.edu 37 11 108004588 108004588 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 108004588 108004588 T - DEL ACAT1 ENST00000265838 human ensembl 74_37 +1 known frame_shift_del c.162 p.L56fs 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 70 0 0 68 11 13.9241 RDX 0 genome.wustl.edu 37 11 110104137 110104137 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 110104137 110104137 G - DEL RDX ENST00000530749 human ensembl 74_37 -1 known frame_shift_del c.1412 p.P471fs 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_N pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 128 0 0 103 17 14.1667 CADM1 0 genome.wustl.edu 37 11 115080311 115080312 + In_Frame_Ins INS - - TGG TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 115080311 115080312 - TGG INS CADM1 ENST00000452722 human ensembl 74_37 -1 known in_frame_ins c.1061_1060 p.354in_frame_insT 0.999:1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 63 0 0 55 14 20.2899 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 276 0 0 210 35 14.2857 PRDM10 0 genome.wustl.edu 37 11 129780429 129780431 + In_Frame_Del DEL CTG CTG - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 129780429 129780431 CTG - DEL PRDM10 ENST00000358825 human ensembl 74_37 -1 known in_frame_del c.3117_3115 p.Q1039in_frame_del 0.107:0.998:1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 44 0 0 64 13 16.8831 KCNC1 0 genome.wustl.edu 37 11 17794004 17794004 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 17794004 17794004 A - DEL KCNC1 ENST00000265969 human ensembl 74_37 +1 known frame_shift_del c.1363 p.K457fs 1.000 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 88 0 0 84 16 16 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 105 0 0 74 11 12.9412 HIPK3 0 genome.wustl.edu 37 11 33358692 33358693 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 33358692 33358693 - T INS HIPK3 ENST00000303296 human ensembl 74_37 +1 known frame_shift_ins c.1293_1294 p.C433fs 1.000:1.000 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,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 HIPK3 HGNC ENSG00000110422 30 0 0 27 4 12.9032 TRIM68 0 genome.wustl.edu 37 11 4621796 4621796 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 4621796 4621796 G - DEL TRIM68 ENST00000300747 human ensembl 74_37 -1 known frame_shift_del c.1168 p.H390fs 0.160 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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 58 0 0 50 11 18.0328 SPI1 0 genome.wustl.edu 37 11 47399861 47399861 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 47399861 47399861 G - DEL SPI1 ENST00000227163 human ensembl 74_37 -1 known frame_shift_del c.44 p.P15fs 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPI1 HGNC ENSG00000066336 31 0 0 33 4 10.8108 TUT1 0 genome.wustl.edu 37 11 62348879 62348881 + In_Frame_Del DEL CCT CCT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 62348879 62348881 CCT - DEL TUT1 ENST00000308436 human ensembl 74_37 -1 known in_frame_del c.682_680 p.E227in_frame_del 1.000:1.000:1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 42 0 0 43 10 18.8679 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 75 0 0 44 12 21.4286 SLC22A9 0 genome.wustl.edu 37 11 63149671 63149672 + Frame_Shift_Del DEL AA AA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 63149671 63149672 AA - DEL SLC22A9 ENST00000279178 human ensembl 74_37 +1 known frame_shift_del c.995_996 p.K335fs 0.005:0.008 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 144 0 0 93 28 23.1405 YIF1A 0 genome.wustl.edu 37 11 66052322 66052323 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 66052322 66052323 - G INS YIF1A ENST00000471387 human ensembl 74_37 -1 putative frame_shift_ins c.328_327 p.I109fs 0.000:0.002 NULL pfam_Hrf1 - no_errors YIF1A HGNC ENSG00000174851 47 0 0 60 13 17.8082 DPP3 0 genome.wustl.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 66272154 66272155 - C INS DPP3 ENST00000360510 human ensembl 74_37 +1 known frame_shift_ins c.1950_1951 p.E652fs 0.001:0.061 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 79 0 0 96 21 17.9487 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 14 0 0 14 4 22.2222 MYEOV 0 genome.wustl.edu 37 11 69063724 69063724 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 37 0 0 26 4 13.3333 EPS8L2 0 genome.wustl.edu 37 11 723304 723305 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 723304 723305 - C INS EPS8L2 ENST00000318562 human ensembl 74_37 +1 known frame_shift_ins c.1405_1406 p.G473fs 0.006:0.005 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 119 0 0 86 11 11.3402 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 37 0 0 32 5 13.5135 CEP57 0 genome.wustl.edu 37 11 95564332 95564332 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 11 95564332 95564332 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.1415 p.R474fs 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 51 0 0 39 7 15.2174 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 120 0 0 77 18 18.9474 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 25 0 0 25 6 19.3548 CMAS 0 genome.wustl.edu 37 12 22213771 22213771 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 22213771 22213771 A - DEL CMAS ENST00000229329 human ensembl 74_37 +1 known frame_shift_del c.699 p.M235fs 0.820 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 84 0 0 50 9 15.2542 GXYLT1 0 genome.wustl.edu 37 12 42499815 42499816 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 42499815 42499816 - A INS GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_ins c.669_668 p.L223fs 0.997:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 49 0 0 35 9 20.4545 FGF23 0 genome.wustl.edu 37 12 4479807 4479807 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 4479807 4479807 G - DEL FGF23 ENST00000237837 human ensembl 74_37 -1 known frame_shift_del c.458 p.P153fs 0.985 superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 111 0 0 107 10 8.54701 ADCY6 0 genome.wustl.edu 37 12 49177036 49177036 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 49177036 49177036 G - DEL ADCY6 ENST00000307885 human ensembl 74_37 -1 known frame_shift_del c.182 p.P61fs 0.013 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 33 0 0 61 6 8.95522 KMT2D 0 genome.wustl.edu 37 12 49445500 49445500 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 49445500 49445500 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.1966 p.L656fs 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 77 0 0 75 16 17.5824 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 12 54645832 54645832 T - DEL CBX5 ENST00000209875 human ensembl 74_37 -1 known frame_shift_del c.317 p.K106fs 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 192 0 0 104 25 19.3798 GRTP1 0 genome.wustl.edu 37 13 113979911 113979911 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 113979911 113979911 C - DEL GRTP1 ENST00000375430 human ensembl 74_37 -1 known frame_shift_del c.986 p.G329fs 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 27 0 0 22 7 24.1379 CDC16 0 genome.wustl.edu 37 13 115037720 115037720 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 115037720 115037720 A - DEL CDC16 ENST00000356221 human ensembl 74_37 +1 known frame_shift_del c.1665 p.N557fs 0.999 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 48 0 0 40 14 25.9259 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 32 0 0 21 3 12.5 SACS 0 genome.wustl.edu 37 13 23915417 23915417 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 23915417 23915417 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.2598 p.K866fs 0.967 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 65 0 0 48 15 23.8095 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 59 0 0 60 18 23.0769 LMO7 0 genome.wustl.edu 37 13 76427254 76427254 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 13 76427254 76427254 C - DEL LMO7 ENST00000357063 human ensembl 74_37 +1 known frame_shift_del c.4547 p.R1518fs 0.996 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 96 0 0 83 8 8.79121 BAG5 0 genome.wustl.edu 37 14 104026528 104026528 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 104026528 104026528 T - DEL BAG5 ENST00000337322 human ensembl 74_37 -1 known frame_shift_del c.1097 p.N366fs 1.000 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC ENSG00000166170 95 0 0 71 16 18.3908 MTA1 0 genome.wustl.edu 37 14 105932776 105932776 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 105932776 105932776 C - DEL MTA1 ENST00000331320 human ensembl 74_37 +1 known frame_shift_del c.1638 p.K549fs 0.971 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 12 0 0 18 5 21.7391 LTB4R2 0 genome.wustl.edu 37 14 24780905 24780905 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 24780905 24780905 G - DEL LTB4R2 ENST00000528054 human ensembl 74_37 +1 known frame_shift_del c.1128 p.G378fs 0.030 prints_Leukotriene_B4_typ-2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-2_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R2 Uniprot_gn ENSG00000272658 63 0 0 79 12 13.1868 TTLL5 0 genome.wustl.edu 37 14 76156622 76156622 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 76156622 76156622 C - DEL TTLL5 ENST00000298832 human ensembl 74_37 +1 known frame_shift_del c.459 p.Q155fs 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 71 0 0 56 7 11.1111 DIO2 0 genome.wustl.edu 37 14 80669574 80669575 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 80669574 80669575 - T INS DIO2 ENST00000422005 human ensembl 74_37 -1 known frame_shift_ins c.280_279 p.G93fs 0.062:0.147 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 15 0 0 15 3 16.6667 SERPINA5 0 genome.wustl.edu 37 14 95053821 95053821 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 14 95053821 95053821 C - DEL SERPINA5 ENST00000329597 human ensembl 74_37 +1 known frame_shift_del c.122 p.S43fs 0.219 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 66 0 0 68 13 16.0494 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344663 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 76 0 0 71 16 18.3908 PLA2G4E 0 genome.wustl.edu 37 15 42302337 42302338 + Frame_Shift_Del DEL CA CA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 42302337 42302338 CA - DEL PLA2G4E ENST00000413860 human ensembl 74_37 -1 known frame_shift_del c.109_108 p.A39fs 0.047:0.024 pfscan_C2_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 PLA2G4E HGNC ENSG00000188089 52 0 0 87 15 14.7059 SPG11 0 genome.wustl.edu 37 15 44907750 44907750 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 44907750 44907750 A - DEL SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_del c.2849 p.L950fs 0.982 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 52 0 0 46 11 19.2982 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 80 0 0 74 14 15.9091 B2M 0 genome.wustl.edu 37 15 45007834 45007834 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 45007834 45007834 A - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.281 p.D96fs 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 110 0 0 84 14 14.2857 USP8 0 genome.wustl.edu 37 15 50733661 50733661 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 50733661 50733661 A - DEL USP8 ENST00000307179 human ensembl 74_37 +1 known frame_shift_del c.220 p.R76fs 1.000 pfam_USP8_dimer pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 56 0 0 29 14 32.5581 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL 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 PRTG HGNC ENSG00000166450 48 0 0 35 6 14.6341 MNS1 0 genome.wustl.edu 37 15 56736723 56736723 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 56736723 56736723 T - DEL MNS1 ENST00000260453 human ensembl 74_37 -1 known frame_shift_del c.605 p.K202fs 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 96 0 0 66 15 18.5185 NARG2 0 genome.wustl.edu 37 15 60741267 60741267 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 60741267 60741267 T - DEL NARG2 ENST00000261520 human ensembl 74_37 -1 known frame_shift_del c.1899 p.K633fs 1.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 68 0 0 39 7 15.2174 VPS13C 0 genome.wustl.edu 37 15 62161812 62161813 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 62161812 62161813 - T INS VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_ins c.10635_10634 p.E3546fs 1.000:1.000 pfam_Autophagy-rel_C pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 116 0 0 124 7 5.34351 TRIP4 0 genome.wustl.edu 37 15 64686218 64686218 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 64686218 64686218 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.175 p.G61fs 0.978 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 44 0 0 38 9 19.1489 SPG21 0 genome.wustl.edu 37 15 65262526 65262526 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 65262526 65262526 T - DEL SPG21 ENST00000204566 human ensembl 74_37 -1 known frame_shift_del c.487 p.I163fs 1.000 NULL pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 232 0 0 156 25 13.8122 PIAS1 0 genome.wustl.edu 37 15 68479955 68479955 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 68479955 68479955 T - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known frame_shift_del c.1738 p.F581fs 0.998 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 66 0 0 46 9 16.3636 MCTP2 0 genome.wustl.edu 37 15 94901801 94901802 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 15 94901801 94901802 - G INS MCTP2 ENST00000357742 human ensembl 74_37 +1 known frame_shift_ins c.1261_1262 p.D424fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 47 0 0 37 7 15.9091 TELO2 0 genome.wustl.edu 37 16 1551464 1551464 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 1551464 1551464 C - DEL TELO2 ENST00000262319 human ensembl 74_37 +1 known frame_shift_del c.1325 p.Q444fs 0.000 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 17 0 0 28 4 12.5 FOPNL 0 genome.wustl.edu 37 16 15978038 15978038 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 15978038 15978038 T - DEL FOPNL ENST00000255759 human ensembl 74_37 -1 known frame_shift_del c.53 p.K18fs 0.435 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 50 0 0 45 10 18.1818 ARHGAP17 0 genome.wustl.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 24942180 24942180 G - DEL ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known frame_shift_del c.2440 p.Q814fs 0.892 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 167 0 0 212 41 16.2055 GTF3C1 0 genome.wustl.edu 37 16 27509009 27509009 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 27509009 27509009 T - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.2299 p.S767fs 0.542 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 97 0 0 57 14 19.7183 CD2BP2 0 genome.wustl.edu 37 16 30364358 30364358 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 30364358 30364358 G - DEL CD2BP2 ENST00000305596 human ensembl 74_37 -1 known frame_shift_del c.974 p.P325fs 0.853 pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 71 0 0 74 7 8.64198 ADCY9 0 genome.wustl.edu 37 16 4039076 4039076 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 4039076 4039076 A - DEL ADCY9 ENST00000294016 human ensembl 74_37 -1 known frame_shift_del c.2229 p.F743fs 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 102 0 0 54 16 22.8571 RBL2 0 genome.wustl.edu 37 16 53504727 53504727 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 53504727 53504727 A - DEL RBL2 ENST00000262133 human ensembl 74_37 +1 known frame_shift_del c.2596 p.I868fs 1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 111 0 0 83 13 13.5417 DPEP2 0 genome.wustl.edu 37 16 68021468 68021468 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 68021468 68021468 G - DEL DPEP2 ENST00000393847 human ensembl 74_37 -1 known frame_shift_del c.1402 p.H468fs 0.000 NULL pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 156 0 0 138 20 12.6582 ZFHX3 0 genome.wustl.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 72821594 72821596 GCC - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known in_frame_del c.10581_10579 p.G3527in_frame_del 1.000:1.000:1.000 smart_Znf_U1 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 63 0 0 104 8 7.14286 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 59 0 0 43 7 14 MYO15A 0 genome.wustl.edu 37 17 18023583 18023585 + In_Frame_Del DEL AGG AGG - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 18023583 18023585 AGG - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known in_frame_del c.1469_1471 p.E491in_frame_del 0.997:0.981:1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 60 0 0 63 6 8.69565 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 122 0 0 109 29 21.0145 NEK8 0 genome.wustl.edu 37 17 27068996 27068996 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 27068996 27068996 C - DEL NEK8 ENST00000268766 human ensembl 74_37 +1 known frame_shift_del c.2070 p.*693fs 0.001 NULL pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 133 0 0 114 13 10.2362 SEZ6 0 genome.wustl.edu 37 17 27284483 27284483 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 27284483 27284483 C - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.2377 p.A793fs 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 84 0 0 92 16 14.8148 NF1 0 genome.wustl.edu 37 17 29552144 29552144 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 29552144 29552144 T - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.1877 p.Y628fs 0.976 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 159 1 0.625 89 21 19.0909 GPR179 0 genome.wustl.edu 37 17 36486047 36486047 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 36486047 36486047 G - DEL GPR179 ENST00000342292 human ensembl 74_37 -1 known frame_shift_del c.3405 p.K1136fs 0.610 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 133 0 0 130 16 10.9589 AOC4P 0 genome.wustl.edu 37 17 41019778 41019778 + RNA DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 41019778 41019778 C - DEL AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AOC4P HGNC ENSG00000260105 53 0 0 71 5 6.57895 KANSL1 0 genome.wustl.edu 37 17 44248731 44248731 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 44248731 44248731 C - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.779 p.G260fs 0.930 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 83 0 0 69 13 15.8537 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 110 0 0 85 20 19.0476 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 133 0 0 116 33 22.1477 MTMR4 0 genome.wustl.edu 37 17 56590285 56590285 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 56590285 56590285 G - DEL MTMR4 ENST00000323456 human ensembl 74_37 -1 known frame_shift_del c.21 p.S8fs 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 96 0 0 103 9 8.03571 INTS2 0 genome.wustl.edu 37 17 59945339 59945339 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 59945339 59945339 A - DEL INTS2 ENST00000444766 human ensembl 74_37 -1 known frame_shift_del c.3300 p.F1100fs 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 23 0 0 24 4 14.2857 CBX8 0 genome.wustl.edu 37 17 77768647 77768648 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 17 77768647 77768648 - C INS CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_ins c.957_956 p.L320fs 0.003:0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 29 0 0 38 8 17.3913 USP14 0 genome.wustl.edu 37 18 203145 203146 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 203145 203146 - T INS USP14 ENST00000261601 human ensembl 74_37 +1 known frame_shift_ins c.990_991 p.Y332fs 0.999:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 86 0 0 55 13 19.1176 ZNF521 0 genome.wustl.edu 37 18 22805689 22805689 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 22805689 22805689 A - DEL ZNF521 ENST00000361524 human ensembl 74_37 -1 known frame_shift_del c.2193 p.F731fs 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 91 0 0 82 13 13.6842 PIAS2 0 genome.wustl.edu 37 18 44416356 44416357 + Frame_Shift_Ins INS - - CA TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 44416356 44416357 - CA INS PIAS2 ENST00000585916 human ensembl 74_37 -1 known frame_shift_ins c.1166_1165 p.D389fs 1.000:1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 123 0 0 87 18 17.1429 EPB41L3 0 genome.wustl.edu 37 18 5406836 5406836 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 18 5406836 5406836 G - DEL EPB41L3 ENST00000341928 human ensembl 74_37 -1 known frame_shift_del c.2289 p.V764fs 0.000 pirsf_Band_41_protein,pfam_SAB_dom 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 95 0 0 81 17 17.3469 MAST1 0 genome.wustl.edu 37 19 12977532 12977532 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 12977532 12977532 G - DEL MAST1 ENST00000251472 human ensembl 74_37 +1 known frame_shift_del c.2095 p.V699fs 0.998 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 50 0 0 28 6 17.6471 CIB3 0 genome.wustl.edu 37 19 16275719 16275720 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 16275719 16275720 - A INS CIB3 ENST00000269878 human ensembl 74_37 -1 known frame_shift_ins c.352_351 p.N117fs 1.000:0.781 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 97 0 0 115 18 13.5338 MAST3 0 genome.wustl.edu 37 19 18248078 18248078 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 18248078 18248078 T - DEL MAST3 ENST00000262811 human ensembl 74_37 +1 known frame_shift_del c.1915 p.F640fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 67 0 0 80 10 11.1111 RHPN2 0 genome.wustl.edu 37 19 33493166 33493168 + In_Frame_Del DEL GAG GAG - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 33493166 33493168 GAG - DEL RHPN2 ENST00000254260 human ensembl 74_37 -1 known in_frame_del c.1092_1090 p.L364in_frame_del 0.968:1.000:1.000 pfam_BRO1_dom,pfscan_BRO1_dom 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 43 0 0 47 8 14.5455 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 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 151 0 0 163 23 12.3656 DYRK1B 0 genome.wustl.edu 37 19 40320999 40320999 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 40320999 40320999 G - DEL DYRK1B ENST00000601972 human ensembl 74_37 -1 putative frame_shift_del c.388 p.H130fs 0.002 NULL superfamily_Kinase-like_dom - no_errors DYRK1B HGNC ENSG00000105204 65 0 0 53 8 13.1148 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 23 0 0 29 6 17.1429 CIC 0 genome.wustl.edu 37 19 42791338 42791339 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 42791338 42791339 - C INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.398_399 p.G136fs 0.875:0.095 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 32 0 0 61 9 12.8571 MEGF8 0 genome.wustl.edu 37 19 42838298 42838298 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 42838298 42838298 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.491 p.G166fs 1.000 smart_EG-like_dom 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 43 0 0 46 6 11.5385 HDGFRP2 0 genome.wustl.edu 37 19 4491824 4491824 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 4491824 4491824 A - DEL HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 0.997 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 85 0 0 88 20 18.5185 NAPSB 0 genome.wustl.edu 37 19 50837601 50837602 + RNA INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 50837601 50837602 - C INS NAPSB ENST00000527780 human ensembl 74_37 -1 known rna NULL NULL 0.861:0.853 - - - no_errors NAPSB HGNC ENSG00000131401 27 0 0 17 8 32 CACNG7 0 genome.wustl.edu 37 19 54444809 54444809 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 54444809 54444809 T - DEL CACNG7 ENST00000222212 human ensembl 74_37 +1 known frame_shift_del c.510 p.H172fs 0.996 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 152 0 0 144 24 14.2857 EPN1 0 genome.wustl.edu 37 19 56206189 56206189 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 56206189 56206189 C - DEL EPN1 ENST00000411543 human ensembl 74_37 +1 known frame_shift_del c.1620 p.P542fs 0.992 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 23 0 0 20 4 16.6667 FGF22 0 genome.wustl.edu 37 19 643528 643528 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 643528 643528 G - DEL FGF22 ENST00000215530 human ensembl 74_37 +1 known frame_shift_del c.437 p.150fs 0.001 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 FGF22 HGNC ENSG00000070388 14 0 0 29 5 14.7059 GPR108 0 genome.wustl.edu 37 19 6737533 6737534 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 6737533 6737534 - C INS GPR108 ENST00000264080 human ensembl 74_37 -1 known frame_shift_ins c.55_54 p.Q18fs 0.246:0.396 NULL pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 14 0 0 12 3 20 LPPR3 0 genome.wustl.edu 37 19 813196 813196 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 813196 813196 T - DEL LPPR3 ENST00000359894 human ensembl 74_37 -1 known frame_shift_del c.1615 p.S539fs 0.987 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 10 0 0 14 3 17.6471 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 11 0 0 8 6 42.8571 OR7E24 0 genome.wustl.edu 37 19 9362217 9362217 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 19 9362217 9362217 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.498 p.F168fs 0.000 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 OR7E24 HGNC ENSG00000237521 44 0 0 39 13 25 GCC2 0 genome.wustl.edu 37 2 109087884 109087884 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 109087884 109087884 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.2099 p.K702fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 177 0 0 99 21 17.5 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 41 0 0 31 10 24.3902 TPO 0 genome.wustl.edu 37 2 1457590 1457590 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 1457590 1457590 C - DEL TPO ENST00000329066 human ensembl 74_37 +1 known frame_shift_del c.607 p.P204fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 69 0 0 51 11 17.7419 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor 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 96 0 0 61 10 14.0845 TPO 0 genome.wustl.edu 37 2 1507748 1507748 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 1507748 1507748 C - DEL TPO ENST00000329066 human ensembl 74_37 +1 known frame_shift_del c.2415 p.C808fs 0.002 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 74 0 0 61 8 11.5942 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 83 0 0 52 9 14.7541 DHRS9 0 genome.wustl.edu 37 2 169938088 169938088 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 169938088 169938088 A - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.177 p.M61fs 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 56 0 0 48 9 15.7895 ITGA6 0 genome.wustl.edu 37 2 173337510 173337510 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 173337510 173337510 T - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_del c.784 p.L263fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 75 0 0 67 20 22.9885 HECW2 0 genome.wustl.edu 37 2 197085637 197085637 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 197085637 197085637 C - DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.4175 p.G1392fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 141 0 0 118 17 12.5926 GTF3C3 0 genome.wustl.edu 37 2 197649614 197649614 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 197649614 197649614 T - DEL GTF3C3 ENST00000263956 human ensembl 74_37 -1 known frame_shift_del c.1081 p.T361fs 0.044 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 55 0 0 38 7 15.5556 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL 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 87 0 0 65 12 15.5844 RAPH1 0 genome.wustl.edu 37 2 204305619 204305619 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 204305619 204305619 G - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.2450 p.P817fs 0.409 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 91 0 0 111 10 8.26446 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 44 0 0 38 7 15.5556 CRYGD 0 genome.wustl.edu 37 2 208986445 208986445 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 208986445 208986445 G - DEL CRYGD ENST00000264376 human ensembl 74_37 -1 known frame_shift_del c.477 p.T160fs 0.000 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 CRYGD HGNC ENSG00000118231 71 0 0 63 9 12.5 CCDC108 0 genome.wustl.edu 37 2 219883883 219883883 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 219883883 219883883 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.3492 p.V1165fs 0.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 103 0 0 83 12 12.6316 SP100 0 genome.wustl.edu 37 2 231379990 231379990 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 231379990 231379990 A - DEL SP100 ENST00000264052 human ensembl 74_37 +1 known frame_shift_del c.2275 p.K761fs 1.000 superfamily_HMG_box_dom pfam_Sp100,pfam_SAND_dom,pfam_HMG_box_dom,superfamily_SAND_dom-like,superfamily_HMG_box_dom,smart_SAND_dom,smart_HMG_box_dom,pfscan_SAND_dom,pfscan_HMG_box_dom - no_errors SP100 HGNC ENSG00000067066 90 0 0 80 20 20 MSH6 0 genome.wustl.edu 37 2 48030692 48030692 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 48030692 48030692 T - DEL MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_del c.3306 p.F1104fs 0.298 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 96 0 0 71 15 17.4419 CCDC88A 0 genome.wustl.edu 37 2 55570930 55570930 + Splice_Site DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 55570930 55570930 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known splice_site_del c.1189-2 e12-2 1.000 - - - no_errors CCDC88A HGNC ENSG00000115355 25 0 0 13 5 27.7778 USP34 0 genome.wustl.edu 37 2 61633020 61633020 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 61633020 61633020 T - DEL USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_del c.375 p.K125fs 0.935 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 56 0 0 34 7 17.0732 MCEE 0 genome.wustl.edu 37 2 71351665 71351665 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 71351665 71351665 A - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.49 p.S17fs 0.007 NULL pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 94 0 0 55 12 17.9104 INO80B 0 genome.wustl.edu 37 2 74687177 74687180 + Splice_Site DEL GTGA GTGA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 74687177 74687180 GTGA - DEL INO80B ENST00000452361 human ensembl 74_37 +1 known splice_site_del c.1092+1_4 e6+1 1.000:1.000:1.000:1.000 - - - no_errors INO80B HGNC ENSG00000115274 101 0 0 84 7 7.69231 KDM3A 0 genome.wustl.edu 37 2 86697368 86697368 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 86697368 86697368 A - DEL KDM3A ENST00000312912 human ensembl 74_37 +1 known frame_shift_del c.1561 p.K522fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 89 0 0 87 19 17.9245 GPAT2 0 genome.wustl.edu 37 2 96692041 96692041 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 96692041 96692041 G - DEL GPAT2 ENST00000359548 human ensembl 74_37 -1 known frame_shift_del c.1045 p.L349fs 0.985 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 30 0 0 33 5 13.1579 SEMA4C 0 genome.wustl.edu 37 2 97526594 97526594 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 97526594 97526594 C - DEL SEMA4C ENST00000305476 human ensembl 74_37 -1 known frame_shift_del c.2271 p.P759fs 0.994 NULL 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 99 0 0 89 16 15.2381 FAHD2B 0 genome.wustl.edu 37 2 97749725 97749725 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 2 97749725 97749725 G - DEL FAHD2B ENST00000272610 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 44 0 0 39 5 11.3636 CD93 0 genome.wustl.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 23065992 23065992 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.838 p.D280fs 0.033 pirsf_CD93/CD141,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 217 1 0.458716 233 31 11.7424 FASTKD5 0 genome.wustl.edu 37 20 3128001 3128001 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 3128001 3128001 C - DEL FASTKD5 ENST00000380266 human ensembl 74_37 -1 known frame_shift_del c.1716 p.Q574fs 0.997 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 91 0 0 73 15 17.0455 TGIF2 0 genome.wustl.edu 37 20 35219539 35219539 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 35219539 35219539 A - DEL TGIF2 ENST00000373872 human ensembl 74_37 +1 known frame_shift_del c.419 p.K141fs 0.413 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2 HGNC ENSG00000118707 99 0 0 79 19 19.3878 DDX27 0 genome.wustl.edu 37 20 47860465 47860465 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 47860465 47860465 A - DEL DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DDX27 HGNC ENSG00000124228 16 0 0 9 3 25 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 116 1 0.854701 70 28 28.5714 NFATC2 0 genome.wustl.edu 37 20 50139819 50139820 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 50139819 50139820 - G INS NFATC2 ENST00000396009 human ensembl 74_37 -1 known frame_shift_ins c.961_960 p.K320fs 1.000:0.994 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 55 0 0 57 6 9.52381 FAM209A 0 genome.wustl.edu 37 20 55100911 55100911 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 55100911 55100911 A - DEL FAM209A ENST00000371328 human ensembl 74_37 +1 known frame_shift_del c.301 p.R103fs 0.004 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 138 0 0 108 19 14.9606 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 34 0 0 29 6 17.1429 LTN1 0 genome.wustl.edu 37 21 30303519 30303519 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 30303519 30303519 T - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.5334 p.A1779fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 103 0 0 65 14 17.7215 IFNAR1 0 genome.wustl.edu 37 21 34721401 34721401 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 34721401 34721401 T - DEL IFNAR1 ENST00000270139 human ensembl 74_37 +1 known frame_shift_del c.793 p.L266fs 0.004 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 70 0 0 44 8 15.3846 PDE9A 0 genome.wustl.edu 37 21 44195538 44195540 + RNA DEL AAA AAA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 44195538 44195540 AAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 15 0 0 23 2 8 PTTG1IP 0 genome.wustl.edu 37 21 46275129 46275129 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 21 46275129 46275129 T - DEL PTTG1IP ENST00000330938 human ensembl 74_37 -1 known frame_shift_del c.492 p.K164fs 1.000 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 57 0 0 37 9 19.5652 BPIFC 0 genome.wustl.edu 37 22 32831828 32831829 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 32831828 32831829 - G INS BPIFC ENST00000300399 human ensembl 74_37 -1 known frame_shift_ins c.787_786 p.F262fs 0.795:0.148 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom 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 BPIFC HGNC ENSG00000184459 95 0 0 67 12 15.1899 TST 0 genome.wustl.edu 37 22 37407108 37407108 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 22 37407108 37407108 G - DEL TST ENST00000249042 human ensembl 74_37 -1 known frame_shift_del c.854 p.P285fs 0.995 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 111 0 0 125 14 10.0719 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 51 0 0 27 16 37.2093 ENSG00000240057 0 genome.wustl.edu 37 3 112738501 112738502 + RNA INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 112738501 112738502 - G INS ENSG00000240057 ENST00000460707 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.002 - - - no_errors RP11-572M11.4 Clone_based_vega_gene ENSG00000240057 28 0 0 39 10 20.4082 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 ZBTB20 HGNC ENSG00000181722 74 0 0 72 34 32.0755 MAATS1 0 genome.wustl.edu 37 3 119459480 119459480 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 119459480 119459480 A - DEL MAATS1 ENST00000273390 human ensembl 74_37 +1 known frame_shift_del c.1618 p.A542fs 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 45 0 0 60 7 10.4478 HSPBAP1 0 genome.wustl.edu 37 3 122459968 122459968 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 122459968 122459968 A - DEL HSPBAP1 ENST00000471534 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HSPBAP1 HGNC ENSG00000169087 53 0 0 44 6 12 ZXDC 0 genome.wustl.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 126178522 126178522 T - DEL ZXDC ENST00000389709 human ensembl 74_37 -1 known frame_shift_del c.2186 p.K729fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 489 0 0 451 56 11.0454 TBC1D5 0 genome.wustl.edu 37 3 17300085 17300086 + Splice_Site INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 17300085 17300086 - A INS TBC1D5 ENST00000253692 human ensembl 74_37 -1 known splice_site_ins c.1246-3_1246-2 e14-2 1.000:0.995 - - - no_errors TBC1D5 HGNC ENSG00000131374 63 0 0 54 8 12.9032 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 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_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 33 0 0 33 5 13.1579 TNK2 0 genome.wustl.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 195595228 195595229 - G INS TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_ins c.2130_2129 p.P711fs 0.449:0.994 NULL 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 59 0 0 102 11 9.73451 SGOL1 0 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 35 0 0 27 8 22.8571 XIRP1 0 genome.wustl.edu 37 3 39227344 39227344 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 39227344 39227344 C - DEL XIRP1 ENST00000340369 human ensembl 74_37 -1 known frame_shift_del c.3593 p.G1198fs 0.040 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 63 0 0 53 5 8.62069 KIF9 0 genome.wustl.edu 37 3 47316957 47316957 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 47316957 47316957 T - DEL KIF9 ENST00000265529 human ensembl 74_37 -1 known frame_shift_del c.117 p.D40fs 0.993 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 64 0 0 44 11 20 PBRM1 0 genome.wustl.edu 37 3 52682400 52682400 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 52682400 52682400 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.773 p.N258fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 89 0 0 70 7 9.09091 OXTR 0 genome.wustl.edu 37 3 8809115 8809115 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 3 8809115 8809115 C - DEL OXTR ENST00000316793 human ensembl 74_37 -1 known frame_shift_del c.759 p.R254fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 25 0 0 34 13 27.6596 ADH6 0 genome.wustl.edu 37 4 100129893 100129895 + In_Frame_Del DEL CTT CTT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 100129893 100129895 CTT - DEL ADH6 ENST00000394899 human ensembl 74_37 -1 known in_frame_del c.760_758 p.E253in_frame_del 0.995:0.877:0.861 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 332 0 0 276 42 13.2075 FHDC1 0 genome.wustl.edu 37 4 153864507 153864507 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 153864507 153864507 T - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_del c.298 p.W102fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 182 0 0 126 26 17.1053 MAP9 0 genome.wustl.edu 37 4 156273868 156273869 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 156273868 156273869 - T INS MAP9 ENST00000311277 human ensembl 74_37 -1 known frame_shift_ins c.1701_1700 p.E568fs 1.000:1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 23 0 0 22 5 18.5185 FNIP2 0 genome.wustl.edu 37 4 159782571 159782571 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 159782571 159782571 A - DEL FNIP2 ENST00000379346 human ensembl 74_37 +1 known frame_shift_del c.1295 p.N434fs 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 34 0 0 46 7 13.2075 FNIP2 0 genome.wustl.edu 37 4 159789993 159789994 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 159789993 159789994 - A INS FNIP2 ENST00000379346 human ensembl 74_37 +1 known frame_shift_ins c.2274_2275 p.M760fs 0.000:0.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 102 0 0 90 13 12.6214 NEK1 0 genome.wustl.edu 37 4 170428879 170428880 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 170428879 170428880 - T INS NEK1 ENST00000507142 human ensembl 74_37 -1 known frame_shift_ins c.1898_1897 p.I633fs 0.407:0.650 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 39 0 0 47 5 9.61538 WWC2 0 genome.wustl.edu 37 4 184166575 184166576 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 184166575 184166576 - A INS WWC2 ENST00000448232 human ensembl 74_37 +1 known frame_shift_ins c.609_610 p.M205fs 1.000:1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 18 0 0 9 3 25 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 71 0 0 37 7 15.9091 PHOX2B 0 genome.wustl.edu 37 4 41747938 41747938 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 41747938 41747938 G - DEL PHOX2B ENST00000226382 human ensembl 74_37 -1 known frame_shift_del c.831 p.G278fs 0.966 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 22 0 0 31 4 11.4286 ATP10D 0 genome.wustl.edu 37 4 47559697 47559698 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 47559697 47559698 - G INS ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_ins c.1841_1842 p.L617fs 0.449:0.439 superfamily_HAD-like_dom 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 ATP10D HGNC ENSG00000145246 51 0 0 49 4 7.54717 PPAT 0 genome.wustl.edu 37 4 57265465 57265465 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 57265465 57265465 T - DEL PPAT ENST00000264220 human ensembl 74_37 -1 known frame_shift_del c.1116 p.K372fs 1.000 pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 105 1 0.943396 62 17 21.519 ABLIM2 0 genome.wustl.edu 37 4 8089995 8089996 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 8089995 8089996 - G INS ABLIM2 ENST00000447017 human ensembl 74_37 -1 known frame_shift_ins c.355_354 p.G118fs 1.000:0.001 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 18 0 0 34 3 8.10811 RASGEF1B 0 genome.wustl.edu 37 4 82363492 82363492 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 82363492 82363492 T - DEL RASGEF1B ENST00000264400 human ensembl 74_37 -1 known frame_shift_del c.967 p.T323fs 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,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 66 0 0 43 8 15.6863 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 49 0 0 38 19 33.3333 ACOX3 0 genome.wustl.edu 37 4 8407708 8407708 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 8407708 8407708 T - DEL ACOX3 ENST00000356406 human ensembl 74_37 -1 known frame_shift_del c.750 p.K250fs 0.939 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 239 0 0 179 26 12.6829 HELQ 0 genome.wustl.edu 37 4 84374584 84374584 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 4 84374584 84374584 T - DEL HELQ ENST00000295488 human ensembl 74_37 -1 known frame_shift_del c.812 p.N271fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 156 0 0 118 23 16.3121 ZCCHC10 0 genome.wustl.edu 37 5 132335884 132335884 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 132335884 132335884 A - DEL ZCCHC10 ENST00000513541 human ensembl 74_37 -1 putative frame_shift_del c.279 p.P95fs 0.000 NULL superfamily_Znf_CCHC - no_errors ZCCHC10 HGNC ENSG00000155329 48 0 0 37 8 17.7778 SPOCK1 0 genome.wustl.edu 37 5 136476321 136476322 + Frame_Shift_Ins INS - - CA TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 136476321 136476322 - CA INS SPOCK1 ENST00000282223 human ensembl 74_37 -1 known frame_shift_ins c.295_294 p.T98fs 0.999:0.989 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 33 0 0 43 5 10.4167 DNAH5 0 genome.wustl.edu 37 5 13751371 13751371 + Splice_Site DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 13751371 13751371 T - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known splice_site_del c.11029-2 e65-2 0.985 - - - no_errors DNAH5 HGNC ENSG00000039139 34 0 0 9 5 35.7143 SLC4A9 0 genome.wustl.edu 37 5 139740384 139740384 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 139740384 139740384 A - DEL SLC4A9 ENST00000230993 human ensembl 74_37 +1 known frame_shift_del c.290 p.H97fs 0.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 31 0 0 28 9 24.3243 PCDHGC5 0 genome.wustl.edu 37 5 140870531 140870531 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 140870531 140870531 C - DEL PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known frame_shift_del c.1724 p.Q577fs 0.194 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 76 0 0 81 12 12.9032 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 74 0 0 42 13 23.6364 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_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 98 0 0 75 16 17.5824 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 77 0 0 45 7 13.4615 LCP2 0 genome.wustl.edu 37 5 169677853 169677853 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 169677853 169677853 T - DEL LCP2 ENST00000046794 human ensembl 74_37 -1 known frame_shift_del c.1360 p.T454fs 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 45 0 0 30 5 14.2857 C5orf45 0 genome.wustl.edu 37 5 179280382 179280382 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 179280382 179280382 A - DEL C5orf45 ENST00000292586 human ensembl 74_37 -1 known frame_shift_del c.122 p.L41fs 0.818 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 64 0 0 68 14 17.0732 PDZD2 0 genome.wustl.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 31799656 31799657 - G INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.301_302 p.K104fs 1.000:1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 116 0 0 103 14 11.9658 GPBP1 0 genome.wustl.edu 37 5 56545258 56545260 + In_Frame_Del DEL CTC CTC - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 56545258 56545260 CTC - DEL GPBP1 ENST00000424459 human ensembl 74_37 +1 known in_frame_del c.887_889 p.P297in_frame_del 1.000:0.950:1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 64 0 0 42 13 23.6364 MARVELD2 0 genome.wustl.edu 37 5 68728813 68728813 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 68728813 68728813 T - DEL MARVELD2 ENST00000325631 human ensembl 74_37 +1 known frame_shift_del c.1396 p.S467fs 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 129 0 0 105 22 17.3228 OTP 0 genome.wustl.edu 37 5 76932989 76932989 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 76932989 76932989 C - DEL OTP ENST00000306422 human ensembl 74_37 -1 known frame_shift_del c.104 p.G35fs 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors OTP HGNC ENSG00000171540 13 0 0 24 3 11.1111 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 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 160 1 0.621118 96 17 15.0442 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 66 0 0 41 6 12.766 SEC63 0 genome.wustl.edu 37 6 108214755 108214755 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 108214755 108214755 T - DEL SEC63 ENST00000369002 human ensembl 74_37 -1 known frame_shift_del c.1605 p.K535fs 0.959 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 95 0 0 75 7 8.53659 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 51 0 0 49 9 15.5172 HIVEP1 0 genome.wustl.edu 37 6 12089462 12089463 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 12089462 12089463 - A INS HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_ins c.86_87 p.E32fs 1.000:0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 51 0 0 32 8 20 NCOA7 0 genome.wustl.edu 37 6 126176317 126176317 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 126176317 126176317 A - DEL NCOA7 ENST00000368357 human ensembl 74_37 +1 known frame_shift_del c.202 p.K70fs 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 155 0 0 105 16 13.2231 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 58 0 0 38 9 19.1489 ENPP3 0 genome.wustl.edu 37 6 132054763 132054766 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 132054763 132054766 CTGT - DEL ENPP3 ENST00000357639 human ensembl 74_37 +1 known frame_shift_del c.1989_1992 p.L665fs 1.000:1.000:1.000:1.000 smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A 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 - no_errors ENPP3 HGNC ENSG00000154269 76 0 0 79 10 11.236 JARID2 0 genome.wustl.edu 37 6 15497226 15497226 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 15497226 15497226 C - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1770 p.P592fs 1.000 smart_TF_JmjN,pfscan_TF_JmjN 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 36 0 0 32 4 11.1111 TIAM2 0 genome.wustl.edu 37 6 155450831 155450831 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 155450831 155450831 C - DEL TIAM2 ENST00000456144 human ensembl 74_37 +1 known frame_shift_del c.474 p.R160fs 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 64 0 0 57 10 14.9254 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 39 0 0 25 9 26.4706 FGFR1OP 0 genome.wustl.edu 37 6 167413537 167413537 + RNA DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 167413537 167413537 T - DEL FGFR1OP ENST00000476078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FGFR1OP HGNC ENSG00000213066 45 0 0 45 9 16.6667 SMOC2 0 genome.wustl.edu 37 6 169053728 169053728 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 169053728 169053728 A - DEL SMOC2 ENST00000354536 human ensembl 74_37 +1 known frame_shift_del c.1138 p.K381fs 1.000 pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_hand_dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 75 0 0 50 12 19.3548 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 35 0 0 30 11 26.8293 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 11 0 0 12 9 42.8571 PPP1R10 0 genome.wustl.edu 37 6 30570264 30570269 + In_Frame_Del DEL GGAGGA GGAGGA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GGAGGA GGAGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 30570264 30570269 GGAGGA - DEL PPP1R10 ENST00000376511 human ensembl 74_37 -1 known in_frame_del c.2162_2157 p.PP720in_frame_del 0.990:0.999:0.997:0.979:0.982:0.980 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 83 0 0 81 12 12.9032 ATAT1 0 genome.wustl.edu 37 6 30610619 30610619 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 30610619 30610619 C - DEL ATAT1 ENST00000376485 human ensembl 74_37 +1 known frame_shift_del c.799 p.R269fs 1.000 NULL pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 17 0 0 31 11 26.1905 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832360 + RNA DEL AAAA AAAA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 40 0 0 44 9 16.9811 FANCE 0 genome.wustl.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 35425714 35425715 - C INS FANCE ENST00000229769 human ensembl 74_37 +1 known frame_shift_ins c.922_923 p.V311fs 0.000:0.000 pfam_Fanconi_anaemia_gr_E_prot_C pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 70 0 0 68 15 18.0723 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 66 0 0 63 11 14.8649 CDYL 0 genome.wustl.edu 37 6 4892244 4892244 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 4892244 4892244 A - DEL CDYL ENST00000328908 human ensembl 74_37 +1 known frame_shift_del c.484 p.N163fs 0.898 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 104 0 0 95 18 15.9292 GCLC 0 genome.wustl.edu 37 6 53387262 53387262 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 53387262 53387262 C - DEL GCLC ENST00000229416 human ensembl 74_37 -1 known frame_shift_del c.214 p.E72fs 0.999 NULL pfam_GCS - no_errors GCLC HGNC ENSG00000001084 114 0 0 81 11 11.9565 DST 0 genome.wustl.edu 37 6 56422266 56422266 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 56422266 56422266 G - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.14398 p.L4800fs 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 56 0 0 29 5 14.7059 OGFRL1 0 genome.wustl.edu 37 6 72011492 72011492 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 72011492 72011492 A - DEL OGFRL1 ENST00000370435 human ensembl 74_37 +1 known frame_shift_del c.1096 p.V368fs 0.721 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 68 0 0 55 12 17.9104 TTK 0 genome.wustl.edu 37 6 80720630 80720630 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 80720630 80720630 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.007 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 95 0 0 64 15 18.9873 KIAA1009 0 genome.wustl.edu 37 6 84896232 84896233 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 6 84896232 84896233 - A INS KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_ins c.1219_1218 p.D406fs 0.000:0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 113 0 0 69 14 16.8675 TRIM56 0 genome.wustl.edu 37 7 100732113 100732113 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 100732113 100732113 C - DEL TRIM56 ENST00000306085 human ensembl 74_37 +1 known frame_shift_del c.1520 p.R509fs 0.419 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 131 0 0 151 25 14.2045 CUX1 0 genome.wustl.edu 37 7 101839973 101839974 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 101839973 101839974 - C INS CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_ins c.1315_1316 p.P442fs 1.000:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 112 0 0 109 12 9.91736 BCAP29 0 genome.wustl.edu 37 7 107234540 107234540 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 107234540 107234540 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.334 p.W114fs 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 51 0 0 37 10 21.2766 MET 0 genome.wustl.edu 37 7 116399408 116399409 + Frame_Shift_Del DEL CT CT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 116399408 116399409 CT - DEL MET ENST00000318493 human ensembl 74_37 +1 known frame_shift_del c.2282_2283 p.L762fs 0.013:0.170 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 16 0 0 17 6 26.087 CTTNBP2 0 genome.wustl.edu 37 7 117424457 117424458 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 117424457 117424458 - G INS CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known frame_shift_ins c.2120_2119 p.L707fs 1.000:1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 111 0 0 132 18 12 CPA5 0 genome.wustl.edu 37 7 130007804 130007805 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 130007804 130007805 - T INS CPA5 ENST00000355388 human ensembl 74_37 +1 known frame_shift_ins c.1096_1097 p.G368fs 0.048:0.018 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 58 0 0 60 19 24.0506 TAS2R38 0 genome.wustl.edu 37 7 141673001 141673001 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 141673001 141673001 A - DEL TAS2R38 ENST00000547270 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 42 0 0 29 7 19.4444 TAS2R41 0 genome.wustl.edu 37 7 143175406 143175407 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 143175406 143175407 - T INS TAS2R41 ENST00000408916 human ensembl 74_37 +1 known frame_shift_ins c.441_442 p.W149fs 0.006:0.499 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 52 0 0 45 11 19.6429 CUL1 0 genome.wustl.edu 37 7 148464766 148464767 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 148464766 148464767 - A INS CUL1 ENST00000325222 human ensembl 74_37 +1 known frame_shift_ins c.1008_1009 p.L338fs 1.000:1.000 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 CUL1 HGNC ENSG00000055130 82 0 0 50 7 12.2807 KMT2C 0 genome.wustl.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 151874148 151874148 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.8390 p.K2797fs 0.019 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 77 0 0 38 8 17.3913 TNRC18 0 genome.wustl.edu 37 7 5391564 5391564 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 5391564 5391564 G - DEL TNRC18 ENST00000399537 human ensembl 74_37 -1 known frame_shift_del c.5356 p.R1786fs 0.971 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 36 0 0 45 7 13.4615 ICA1 0 genome.wustl.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 8198251 8198251 T - DEL ICA1 ENST00000422063 human ensembl 74_37 -1 known frame_shift_del c.611 p.N204fs 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 57 0 0 36 7 16.2791 ABCB1 0 genome.wustl.edu 37 7 87145866 87145866 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 7 87145866 87145866 T - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.3043 p.T1015fs 0.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 95 0 0 82 11 11.828 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 97 0 0 80 21 20.7921 FDFT1 0 genome.wustl.edu 37 8 11696164 11696164 + RNA DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 11696164 11696164 T - DEL FDFT1 ENST00000446331 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FDFT1 HGNC ENSG00000079459 31 0 0 27 8 22.8571 LONRF1 0 genome.wustl.edu 37 8 12589275 12589276 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 12589275 12589276 - T INS LONRF1 ENST00000398246 human ensembl 74_37 -1 known frame_shift_ins c.1658_1657 p.I553fs 1.000:1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 29 0 0 25 6 19.3548 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 64 0 0 67 6 8.21918 MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 68 0 0 88 16 15.3846 ANGPT2 0 genome.wustl.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 6378797 6378798 - T INS ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_ins c.701_700 p.I234fs 0.159:0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 81 0 0 50 12 19.3548 ZFHX4 0 genome.wustl.edu 37 8 77775599 77775599 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 77775599 77775599 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.9649 p.E3219fs 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 77 0 0 81 9 10 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 68 0 0 76 9 10.5882 CPQ 0 genome.wustl.edu 37 8 97797118 97797118 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 8 97797118 97797118 A - DEL CPQ ENST00000525310 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CPQ HGNC ENSG00000104324 51 0 0 44 7 13.7255 INVS 0 genome.wustl.edu 37 9 103054983 103054983 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 103054983 103054983 G - DEL INVS ENST00000262457 human ensembl 74_37 +1 known frame_shift_del c.2444 p.E817fs 0.977 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 63 0 0 63 13 17.1053 CTNNAL1 0 genome.wustl.edu 37 9 111761499 111761499 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 111761499 111761499 T - DEL CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known frame_shift_del c.179 p.K60fs 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 138 0 0 101 17 14.4068 TYRP1 0 genome.wustl.edu 37 9 12708068 12708068 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 12708068 12708068 C - DEL TYRP1 ENST00000388918 human ensembl 74_37 +1 known frame_shift_del c.1333 p.P446fs 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 52 0 0 35 5 12.5 PRRC2B 0 genome.wustl.edu 37 9 134366905 134366905 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 134366905 134366905 G - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known frame_shift_del c.6319 p.A2108fs 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 29 0 0 42 7 14.2857 POMT1 0 genome.wustl.edu 37 9 134381926 134381926 + RNA DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 134381926 134381926 T - DEL POMT1 ENST00000483472 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors POMT1 HGNC ENSG00000130714 44 0 0 29 8 21.6216 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 14 0 0 10 6 37.5 CBWD1 0 genome.wustl.edu 37 9 146222 146222 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 146222 146222 A - DEL CBWD1 ENST00000475411 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CBWD1 HGNC ENSG00000172785 106 0 0 56 9 13.8462 PSIP1 0 genome.wustl.edu 37 9 15472612 15472612 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 15472612 15472612 A - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 49 0 0 27 14 34.1463 CCDC171 0 genome.wustl.edu 37 9 15744289 15744290 + In_Frame_Ins INS - - AAA TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 15744289 15744290 - AAA INS CCDC171 ENST00000380701 human ensembl 74_37 +1 known in_frame_ins c.2068_2069 p.692in_frame_insK 1.000:1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 44 0 0 25 9 26.4706 MLLT3 0 genome.wustl.edu 37 9 20346378 20346380 + RNA DEL AAA AAA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 20346378 20346380 AAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.950:0.903 - - - no_errors MLLT3 HGNC ENSG00000171843 25 0 0 10 2 16.6667 RECK 0 genome.wustl.edu 37 9 36112460 36112461 + Frame_Shift_Ins INS - - A TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 36112460 36112461 - A INS RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_ins c.2047_2048 p.N685fs 0.988:0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 50 0 0 40 10 20 DAPK1 0 genome.wustl.edu 37 9 90321802 90321802 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 9 90321802 90321802 G - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.3891 p.Y1300fs 1.000 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 78 0 0 77 7 8.33333 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f 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 11 0 0 15 2 11.7647 TAF7L 0 genome.wustl.edu 37 X 100538467 100538467 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 100538467 100538467 T - DEL TAF7L ENST00000372907 human ensembl 74_37 -1 known frame_shift_del c.508 p.T170fs 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 229 0 0 136 33 19.5266 MORC4 0 genome.wustl.edu 37 X 106243199 106243199 + Frame_Shift_Del DEL T T - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 106243199 106243199 T - DEL MORC4 ENST00000355610 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 46 0 0 72 13 15.2941 ZCCHC12 0 genome.wustl.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 117960135 117960136 - C INS ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known frame_shift_ins c.928_929 p.H312fs 0.987:0.977 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 207 0 0 169 32 15.9204 CT47B1 0 genome.wustl.edu 37 X 120009498 120009499 + Frame_Shift_Ins INS - - G TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 120009498 120009499 - G INS CT47B1 ENST00000371311 human ensembl 74_37 -1 known frame_shift_ins c.27_26 p.T10fs 0.000:0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 158 0 0 202 20 9.00901 GPM6B 0 genome.wustl.edu 37 X 13791023 13791024 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 13791023 13791024 - T INS GPM6B ENST00000316715 human ensembl 74_37 -1 known frame_shift_ins c.964_963 p.E321fs 1.000:1.000 NULL pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 118 0 0 82 19 18.8119 ASB9 0 genome.wustl.edu 37 X 15288001 15288002 + RNA DEL CT CT - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 15288001 15288002 CT - DEL ASB9 ENST00000470015 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors ASB9 HGNC ENSG00000102048 82 0 0 61 18 22.7848 IRAK1 0 genome.wustl.edu 37 X 153281967 153281967 + Frame_Shift_Del DEL C C - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 153281967 153281967 C - DEL IRAK1 ENST00000369980 human ensembl 74_37 -1 known frame_shift_del c.1157 p.G386fs 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 71 0 0 63 16 20.2532 DKC1 0 genome.wustl.edu 37 X 153995316 153995316 + Frame_Shift_Del DEL G G - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 153995316 153995316 G - DEL DKC1 ENST00000369550 human ensembl 74_37 +1 known frame_shift_del c.493 p.T167fs 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_PsdUridine_synth_B_fam pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 127 0 0 87 18 17.1429 DMD 0 genome.wustl.edu 37 X 32361292 32361293 + Frame_Shift_Ins INS - - T TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 32361292 32361293 - T INS DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_ins c.5698_5697 p.L1899fs 1.000:1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 105 0 0 89 11 11 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 24 0 0 26 4 13.3333 CHDC2 0 genome.wustl.edu 37 X 36122660 36122661 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 36122660 36122661 - C INS CHDC2 ENST00000313548 human ensembl 74_37 +1 known frame_shift_ins c.897_898 p.I301fs 0.007:0.019 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 118 0 0 61 11 15.2778 SRPX 0 genome.wustl.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 38079976 38079978 GCA - DEL SRPX ENST00000378533 human ensembl 74_37 -1 known in_frame_del c.70_68 p.L23in_frame_del 0.000:0.001:0.002 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 11 0 0 4 3 42.8571 GPR82 0 genome.wustl.edu 37 X 41586415 41586415 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 41586415 41586415 A - DEL GPR82 ENST00000302548 human ensembl 74_37 +1 known frame_shift_del c.136 p.T48fs 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 72 0 0 50 8 13.7931 ARHGEF9 0 genome.wustl.edu 37 X 62885799 62885801 + In_Frame_Del DEL GAA GAA - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 62885799 62885801 GAA - DEL ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known in_frame_del c.1023_1021 p.F341in_frame_del 1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 35 0 0 43 9 17.3077 AMER1 0 genome.wustl.edu 37 X 63412648 63412648 + Frame_Shift_Del DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 63412648 63412648 A - DEL AMER1 ENST00000330258 human ensembl 74_37 -1 known frame_shift_del c.519 p.F173fs 0.899 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 109 0 0 103 18 14.876 STARD8 0 genome.wustl.edu 37 X 67942266 67942267 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 67942266 67942267 - C INS STARD8 ENST00000374599 human ensembl 74_37 +1 known frame_shift_ins c.2577_2578 p.Q860fs 0.920:1.000 superfamily_Rho_GTPase_activation_prot 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 15 0 0 26 3 10.3448 DLG3 0 genome.wustl.edu 37 X 69671817 69671818 + Frame_Shift_Ins INS - - C TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 69671817 69671818 - C INS DLG3 ENST00000194900 human ensembl 74_37 +1 known frame_shift_ins c.1140_1141 p.T382fs 0.987:1.000 pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 57 0 0 47 7 12.963 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-BR-8382-01A-11D-2394-08 TCGA-BR-8382-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe42ed1d-e913-4214-a3a4-7baf5288dbb7 a0801674-6113-406a-af1c-7e4f6c61d55f X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 128 1 0.775194 79 9 10.2273