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 CELSR2 0 genome.wustl.edu 37 1 109795285 109795285 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 109795285 109795285 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.2584 p.G862S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 94 0 0 101 29 22.3077 AMIGO1 0 genome.wustl.edu 37 1 110050335 110050335 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 110050335 110050335 G T SNP AMIGO1 ENST00000369862 human ensembl 74_37 -1 known nonsense c.1200 p.C400* 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO1 HGNC ENSG00000181754 81 0 0 73 17 18.8889 C1orf127 0 genome.wustl.edu 37 1 11008529 11008529 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 11008529 11008529 T C SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.1663 p.K555E 0.012 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 83 0 0 60 16 21.0526 KCNC4 0 genome.wustl.edu 37 1 110754491 110754491 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 110754491 110754491 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.370 p.P124S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 80 0 0 77 8 9.41176 KCNA3 0 genome.wustl.edu 37 1 111216088 111216088 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 111216088 111216088 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1344 p.G448 0.359 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 85 0 0 84 15 15.1515 KCNA3 0 genome.wustl.edu 37 1 111216663 111216663 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 111216663 111216663 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.769 p.P257S 1.000 prints_K_chnl_volt-dep_Kv1 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 99 0 0 101 27 21.0938 KCNA3 0 genome.wustl.edu 37 1 111217063 111217063 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 111217063 111217063 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.369 p.C123 0.996 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 128 0 0 147 28 16 ENSG00000226849 0 genome.wustl.edu 37 1 11132286 11132286 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 11132286 11132286 T C SNP ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 40 0 0 25 10 28.5714 EXOSC10 0 genome.wustl.edu 37 1 11137673 11137673 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 11137673 11137673 C T SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known silent c.1785 p.P595 0.002 superfamily_HRDC-like pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 81 0 0 80 21 20.7921 MTOR 0 genome.wustl.edu 37 1 11181356 11181356 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 11181356 11181356 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.6880 p.T2294A 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom 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 83 0 0 86 13 13.1313 FAM19A3 0 genome.wustl.edu 37 1 113265709 113265709 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 113265709 113265709 C T SNP FAM19A3 ENST00000369630 human ensembl 74_37 +1 known missense c.187 p.R63C 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 36 0 0 42 8 16 MAGI3 0 genome.wustl.edu 37 1 114226109 114226109 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 114226109 114226109 A C SNP MAGI3 ENST00000307546 human ensembl 74_37 +1 novel missense c.3919 p.K1307Q 0.058 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 128 0 0 126 37 22.6994 SYCP1 0 genome.wustl.edu 37 1 115488986 115488986 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 115488986 115488986 C T SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.2231 p.S744L 0.187 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 31 0 0 58 15 20.5479 PTCHD2 0 genome.wustl.edu 37 1 11579431 11579431 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 11579431 11579431 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1909 p.R637W 0.331 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 255 0 0 251 44 14.9153 WARS2 0 genome.wustl.edu 37 1 119619170 119619170 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 119619170 119619170 T C SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.151 p.N51D 1.000 pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 210 0 0 293 51 14.8256 PHGDH 0 genome.wustl.edu 37 1 120263849 120263849 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 120263849 120263849 C T SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known silent c.195 p.N65 0.042 pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 156 1 0.636943 208 39 15.7895 MXRA8 0 genome.wustl.edu 37 1 1290109 1290109 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 1290109 1290109 C T SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known missense c.902 p.R301Q 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 33 0 0 23 7 23.3333 POLR3GL 0 genome.wustl.edu 37 1 145457969 145457969 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 145457969 145457969 T C SNP POLR3GL ENST00000369314 human ensembl 74_37 -1 known silent c.291 p.S97 0.620 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3GL HGNC ENSG00000121851 75 0 0 86 20 18.8679 PIAS3 0 genome.wustl.edu 37 1 145578465 145578465 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 145578465 145578465 G A SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.428 p.R143Q 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 145 0 0 130 32 19.7531 FCGR1A 0 genome.wustl.edu 37 1 149760090 149760090 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 149760090 149760090 A G SNP FCGR1A ENST00000369168 human ensembl 74_37 +1 known missense c.476 p.N159S 0.835 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR1A HGNC ENSG00000150337 77 0 0 103 20 16.2602 CGN 0 genome.wustl.edu 37 1 151503053 151503053 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 151503053 151503053 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2402 p.R801H 0.447 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 55 0 0 37 12 24.4898 TCHH 0 genome.wustl.edu 37 1 152083414 152083414 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152083414 152083414 T C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.2279 p.E760G 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 227 0 0 215 52 19.4757 TCHH 0 genome.wustl.edu 37 1 152083994 152083994 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152083994 152083994 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.1699 p.L567 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 171 0 0 205 44 17.6707 FLG 0 genome.wustl.edu 37 1 152276300 152276300 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152276300 152276300 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11062 p.H3688Y 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 254 1 0.392157 217 47 17.803 LCE1E 0 genome.wustl.edu 37 1 152760047 152760047 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152760047 152760047 A G SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known missense c.272 p.Q91R 0.008 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 124 0 0 108 14 11.4754 LCE1D 0 genome.wustl.edu 37 1 152770530 152770530 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152770530 152770530 A G SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.260 p.Q87R 0.674 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 91 0 0 81 9 10 LOR 0 genome.wustl.edu 37 1 153234308 153234308 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 153234308 153234308 G A SNP LOR ENST00000368742 human ensembl 74_37 +1 known missense c.883 p.V295I 1.000 NULL NULL - no_errors LOR HGNC ENSG00000203782 30 0 0 28 9 24.3243 S100A13 0 genome.wustl.edu 37 1 153591342 153591342 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 153591342 153591342 C T SNP S100A13 ENST00000476133 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors S100A13 HGNC ENSG00000189171 147 0 0 157 36 18.6528 DENND4B 0 genome.wustl.edu 37 1 153906294 153906294 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 153906294 153906294 C T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.2995 p.D999N 0.955 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 37 0 0 32 3 8.57143 MIB2 0 genome.wustl.edu 37 1 1562227 1562227 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 1562227 1562227 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.1433 p.R478H 0.274 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 39 0 0 28 4 12.5 SMG5 0 genome.wustl.edu 37 1 156228860 156228860 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156228860 156228860 A G SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2378 p.F793S 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 70 0 0 71 18 20.2247 HAPLN2 0 genome.wustl.edu 37 1 156594421 156594421 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156594421 156594421 C T SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known silent c.585 p.N195 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 39 0 0 47 10 17.5439 NES 0 genome.wustl.edu 37 1 156641212 156641212 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156641212 156641212 A G SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2768 p.L923P 0.000 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 164 0 0 189 29 13.3028 NTRK1 0 genome.wustl.edu 37 1 156836706 156836706 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156836706 156836706 C A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.364 p.L122I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 100 0 0 130 15 10.3448 ARHGEF11 0 genome.wustl.edu 37 1 156909362 156909362 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156909362 156909362 T C SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known silent c.4074 p.G1358 0.868 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 105 0 0 155 36 18.8482 CELA2B 0 genome.wustl.edu 37 1 15808798 15808798 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 15808798 15808798 A G SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known missense c.266 p.N89S 0.969 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 CELA2B HGNC ENSG00000215704 89 0 0 122 24 16.4384 CD1A 0 genome.wustl.edu 37 1 158225973 158225973 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 158225973 158225973 C T SNP CD1A ENST00000289429 human ensembl 74_37 +1 known nonsense c.505 p.Q169* 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 80 0 0 116 18 13.4328 SPTA1 0 genome.wustl.edu 37 1 158609667 158609667 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 158609667 158609667 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4868 p.L1623P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 137 0 0 164 33 16.7513 SPTA1 0 genome.wustl.edu 37 1 158641957 158641957 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 158641957 158641957 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.1380 p.A460 0.741 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 59 0 0 64 9 12.3288 IFI16 0 genome.wustl.edu 37 1 159019381 159019381 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 159019381 159019381 T G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1657 p.L553V 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 153 0 0 157 27 14.6739 OR10J5 0 genome.wustl.edu 37 1 159505639 159505639 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 159505639 159505639 A G SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known silent c.159 p.H53 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 172 0 0 188 38 16.8142 COPA 0 genome.wustl.edu 37 1 160269047 160269047 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 160269047 160269047 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1702 p.G568R 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 59 0 0 87 6 6.45161 VANGL2 0 genome.wustl.edu 37 1 160385899 160385899 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 160385899 160385899 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.119 p.G40E 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 119 0 0 112 20 15.1515 SPEN 0 genome.wustl.edu 37 1 16258881 16258881 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 16258881 16258881 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.6146 p.G2049D 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 99 0 0 89 18 16.8224 SPEN 0 genome.wustl.edu 37 1 16261125 16261125 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 16261125 16261125 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.8390 p.P2797L 0.759 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 72 0 0 68 9 11.6883 FAM78B 0 genome.wustl.edu 37 1 166039513 166039513 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 166039513 166039513 G A SNP FAM78B ENST00000338353 human ensembl 74_37 -1 known missense c.751 p.R251W 1.000 NULL NULL - no_errors FAM78B HGNC ENSG00000188859 196 0 0 176 34 16.1905 RABGAP1L 0 genome.wustl.edu 37 1 174652732 174652732 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 174652732 174652732 C T SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.1897 p.H633Y 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_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 68 0 0 88 13 12.8713 TNR 0 genome.wustl.edu 37 1 175306814 175306814 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 175306814 175306814 T C SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3384 p.G1128 0.997 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 52 0 0 32 7 17.9487 BRINP2 0 genome.wustl.edu 37 1 177245458 177245458 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 177245458 177245458 C T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.900 p.S300 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 67 0 0 51 12 19.0476 RALGPS2 0 genome.wustl.edu 37 1 178854298 178854298 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 178854298 178854298 G A SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.992 p.R331Q 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 60 0 0 88 13 12.8713 KIAA1614 0 genome.wustl.edu 37 1 180897619 180897619 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 180897619 180897619 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.1115 p.T372M 0.968 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 217 0 0 195 34 14.8472 LAMC1 0 genome.wustl.edu 37 1 183086469 183086469 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 183086469 183086469 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1579 p.R527C 0.972 pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 54 0 0 65 10 13.3333 HMCN1 0 genome.wustl.edu 37 1 186022123 186022123 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 186022123 186022123 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.6617 p.L2206R 1.000 pfam_Ig_I-set,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 71 0 0 90 21 18.9189 KLHDC7A 0 genome.wustl.edu 37 1 18809260 18809260 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 18809260 18809260 C T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known silent c.1785 p.G595 0.996 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 26 0 0 26 5 16.129 BRINP3 0 genome.wustl.edu 37 1 190129952 190129952 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 190129952 190129952 A G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1030 p.L344 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 90 0 0 145 38 20.765 EMC1 0 genome.wustl.edu 37 1 19565789 19565789 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 19565789 19565789 A G SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.962 p.L321P 0.972 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 100 0 0 95 15 13.6364 LHX9 0 genome.wustl.edu 37 1 197890647 197890647 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 197890647 197890647 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known silent c.591 p.P197 0.921 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 72 0 0 73 7 8.75 RPS10P7 0 genome.wustl.edu 37 1 201489303 201489303 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 201489303 201489303 G A SNP RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS10P7 HGNC ENSG00000223396 28 0 0 34 4 10.5263 PPP1R12B 0 genome.wustl.edu 37 1 202532034 202532034 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 202532034 202532034 A G SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2636 p.N879S 0.997 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 105 0 0 172 34 16.5049 ATP2B4 0 genome.wustl.edu 37 1 203668687 203668687 + Nonsense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 203668687 203668687 T A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known nonsense c.491 p.L164* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 163 0 0 186 31 14.2857 ZC3H11A 0 genome.wustl.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 203821508 203821508 C G SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known nonsense c.2414 p.S805* 0.993 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 40 0 0 77 7 8.33333 PRKCZ 0 genome.wustl.edu 37 1 2066734 2066734 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 2066734 2066734 G T SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known missense c.368 p.R123M 1.000 pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 52 0 0 57 5 8.06452 CR1L 0 genome.wustl.edu 37 1 207851614 207851614 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 207851614 207851614 T A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.349 p.S117T 0.594 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 CR1L HGNC ENSG00000197721 65 0 0 113 13 10.3175 SYT14 0 genome.wustl.edu 37 1 210273768 210273768 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 210273768 210273768 T C SNP SYT14 ENST00000422431 human ensembl 74_37 +1 known missense c.1261 p.S421P 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT14 HGNC ENSG00000143469 45 0 0 63 15 19.2308 EPRS 0 genome.wustl.edu 37 1 220205738 220205738 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 220205738 220205738 T G SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.519 p.K173N 0.102 tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 58 0 0 79 18 18.5567 BPNT1 0 genome.wustl.edu 37 1 220253146 220253146 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 220253146 220253146 C T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.43 p.A15T 0.987 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 71 0 0 91 14 13.3333 MARC2 0 genome.wustl.edu 37 1 220953492 220953492 + RNA SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 220953492 220953492 T G SNP MARC2 ENST00000472447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MARC2 HGNC ENSG00000117791 228 0 0 256 48 15.7895 DUSP10 0 genome.wustl.edu 37 1 221912436 221912436 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 221912436 221912436 G T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known silent c.651 p.S217 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 67 0 0 88 17 16.1905 TAF1A 0 genome.wustl.edu 37 1 222732052 222732052 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 222732052 222732052 G A SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known missense c.1303 p.R435W 0.930 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 39 0 0 72 13 15.2941 C1orf65 0 genome.wustl.edu 37 1 223568232 223568232 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 223568232 223568232 G A SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1415 p.R472H 0.001 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 64 0 0 58 15 20.5479 LEFTY2 0 genome.wustl.edu 37 1 226125159 226125159 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 226125159 226125159 T C SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known silent c.1083 p.P361 0.000 pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 102 0 0 150 23 13.2948 GUK1 0 genome.wustl.edu 37 1 228334618 228334618 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 228334618 228334618 C T SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.230 p.S77L 0.998 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 123 0 0 122 17 12.2302 OBSCN 0 genome.wustl.edu 37 1 228528510 228528510 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 228528510 228528510 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.17618 p.R5873H 0.998 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 21 0 0 18 3 14.2857 URB2 0 genome.wustl.edu 37 1 229772442 229772442 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 229772442 229772442 A G SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.2082 p.E694 0.042 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 211 0 0 331 50 13.1234 EPHB2 0 genome.wustl.edu 37 1 23189542 23189542 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 23189542 23189542 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.824 p.G275E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 158 0 0 163 35 17.6768 DISC1 0 genome.wustl.edu 37 1 231954090 231954090 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 231954090 231954090 C T SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.1808 p.T603M 0.749 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 112 0 0 129 32 19.8758 LYST 0 genome.wustl.edu 37 1 235884191 235884191 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 235884191 235884191 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.9330 p.V3110 0.978 superfamily_BEACH_dom,superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 88 0 0 127 28 18.0645 MTR 0 genome.wustl.edu 37 1 237026853 237026853 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 237026853 237026853 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known nonsense c.2404 p.R802* 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 39 0 0 46 8 14.8148 RYR2 0 genome.wustl.edu 37 1 237540729 237540729 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 237540729 237540729 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.564 p.R188 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept 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 39 0 0 46 12 20.6897 RYR2 0 genome.wustl.edu 37 1 237957207 237957207 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 237957207 237957207 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13841 p.R4614Q 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 32 0 0 50 13 20.6349 FMN2 0 genome.wustl.edu 37 1 240370469 240370469 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 240370469 240370469 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2357 p.S786Y 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 97 0 0 102 18 15 FMN2 0 genome.wustl.edu 37 1 240371913 240371913 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 240371913 240371913 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3801 p.L1267 0.901 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 51 0 0 65 17 20.7317 GALE 0 genome.wustl.edu 37 1 24124675 24124675 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 24124675 24124675 C A SNP GALE ENST00000374497 human ensembl 74_37 -1 known missense c.283 p.G95C 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,tigrfam_GalE pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE - no_errors GALE HGNC ENSG00000117308 102 0 0 91 16 14.9533 FH 0 genome.wustl.edu 37 1 241667467 241667467 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 241667467 241667467 A G SNP FH ENST00000366560 human ensembl 74_37 -1 known missense c.983 p.M328T 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII pfam_Fumarate_lyase_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 70 0 0 88 15 14.5631 CEP170 0 genome.wustl.edu 37 1 243327673 243327673 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 243327673 243327673 A T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.3589 p.F1197I 0.998 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 23 0 0 28 6 17.6471 SDCCAG8 0 genome.wustl.edu 37 1 243542116 243542116 + Silent SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 243542116 243542116 A C SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known silent c.1567 p.R523 0.999 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 85 0 0 102 17 14.2857 CNST 0 genome.wustl.edu 37 1 246811064 246811064 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 246811064 246811064 A G SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.1561 p.I521V 0.000 NULL NULL - no_errors CNST HGNC ENSG00000162852 116 0 0 152 34 18.2796 AHCTF1 0 genome.wustl.edu 37 1 247062790 247062790 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 247062790 247062790 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.1484 p.G495E 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 48 0 0 80 14 14.8936 ZNF669 0 genome.wustl.edu 37 1 247263916 247263916 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 247263916 247263916 G A SNP ZNF669 ENST00000343381 human ensembl 74_37 -1 known silent c.1155 p.T385 0.997 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 ZNF669 HGNC ENSG00000188295 118 0 0 164 23 12.2995 OR2G2 0 genome.wustl.edu 37 1 247751729 247751729 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 247751729 247751729 A G SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.68 p.Y23C 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 89 0 0 134 28 17.284 OR2G2 0 genome.wustl.edu 37 1 247752185 247752185 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 247752185 247752185 G A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.524 p.R175H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 163 0 0 134 29 17.7914 OR14A16 0 genome.wustl.edu 37 1 247978944 247978944 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 247978944 247978944 A G SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known silent c.88 p.L30 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 74 0 0 89 17 16.0377 OR2L2 0 genome.wustl.edu 37 1 248202164 248202164 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 248202164 248202164 T G SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.595 p.F199V 0.005 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 OR2L2 HGNC ENSG00000203663 241 0 0 279 54 16.2162 OR2T4 0 genome.wustl.edu 37 1 248525492 248525492 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 248525492 248525492 C T SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.610 p.R204W 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 223 0 0 254 46 15.3333 OR2T1 0 genome.wustl.edu 37 1 248569368 248569368 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 248569368 248569368 C T SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.73 p.H25Y 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 77 0 0 122 23 15.8621 EXTL1 0 genome.wustl.edu 37 1 26349763 26349763 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 26349763 26349763 G A SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.626 p.G209D 0.999 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 34 0 0 29 11 27.5 TMEM200B 0 genome.wustl.edu 37 1 29447764 29447764 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 29447764 29447764 G T SNP TMEM200B ENST00000420504 human ensembl 74_37 -1 known missense c.577 p.P193T 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200B HGNC ENSG00000253304 30 0 0 30 7 18.9189 PUM1 0 genome.wustl.edu 37 1 31425154 31425154 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 31425154 31425154 T C SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.2648 p.N883S 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 71 0 0 85 12 12.3711 RNF19B 0 genome.wustl.edu 37 1 33402512 33402512 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 33402512 33402512 G T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known silent c.2094 p.T698 0.995 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 153 0 0 169 42 19.9052 TRIM62 0 genome.wustl.edu 37 1 33612805 33612805 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 33612805 33612805 C T SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known silent c.1401 p.P467 0.012 superfamily_ConA-like_lec_gl_sf,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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 131 0 0 111 17 13.2812 ZSCAN20 0 genome.wustl.edu 37 1 33957049 33957049 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 33957049 33957049 T C SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known silent c.1191 p.G397 0.995 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 148 0 0 123 32 20.6452 CSMD2 0 genome.wustl.edu 37 1 34164385 34164385 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 34164385 34164385 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3893 p.R1298Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 149 0 0 126 30 19.2308 DLGAP3 0 genome.wustl.edu 37 1 35369944 35369944 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 35369944 35369944 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.1041 p.A347 0.511 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 111 0 0 111 29 20.7143 SFPQ 0 genome.wustl.edu 37 1 35658417 35658417 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 35658417 35658417 C T SNP SFPQ ENST00000357214 human ensembl 74_37 -1 known silent c.234 p.P78 0.025 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 16 0 0 10 3 23.0769 MACF1 0 genome.wustl.edu 37 1 39910383 39910383 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 39910383 39910383 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.13304 p.L4435P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 73 0 0 69 11 13.75 PABPC4 0 genome.wustl.edu 37 1 40030385 40030385 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 40030385 40030385 G A SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known missense c.1306 p.R436C 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 95 0 0 116 25 17.7305 HPCAL4 0 genome.wustl.edu 37 1 40149648 40149648 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 40149648 40149648 G A SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known silent c.339 p.D113 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 75 0 0 68 15 18.0723 OXCT2 0 genome.wustl.edu 37 1 40236206 40236206 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 40236206 40236206 G A SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known missense c.722 p.T241M 0.021 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 165 1 0.60241 149 22 12.8655 SLC6A9 0 genome.wustl.edu 37 1 44468043 44468043 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 44468043 44468043 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1123 p.A375T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 120 1 0.826446 119 19 13.7681 SLC6A9 0 genome.wustl.edu 37 1 44468551 44468551 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 44468551 44468551 T C SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.916 p.I306V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 256 0 0 260 61 19.0031 OSBPL9 0 genome.wustl.edu 37 1 52226377 52226377 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 52226377 52226377 G A SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.652 p.V218I 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 62 0 0 90 16 15.0943 USP24 0 genome.wustl.edu 37 1 55562631 55562631 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 55562631 55562631 T C SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.5450 p.D1817G 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 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 23 0 0 23 4 14.8148 NPHP4 0 genome.wustl.edu 37 1 5924015 5924015 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 5924015 5924015 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.4075 p.R1359W 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 59 0 0 43 11 20.3704 CHD5 0 genome.wustl.edu 37 1 6209393 6209393 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 6209393 6209393 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.1074 p.C358 0.902 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,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 CHD5 HGNC ENSG00000116254 50 0 0 52 9 14.7541 FOXD3 0 genome.wustl.edu 37 1 63789108 63789108 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 63789108 63789108 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known missense c.379 p.A127T 0.465 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 57 0 0 46 14 23.3333 ZBTB48 0 genome.wustl.edu 37 1 6648463 6648463 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 6648463 6648463 C T SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.1642 p.R548W 0.993 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 41 0 0 20 4 16.6667 KLHL21 0 genome.wustl.edu 37 1 6662470 6662470 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 6662470 6662470 G A SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known silent c.408 p.A136 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 14 0 0 12 4 25 SRSF11 0 genome.wustl.edu 37 1 70698020 70698020 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 70698020 70698020 C A SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known missense c.407 p.P136H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 118 0 0 111 16 12.5984 CTBS 0 genome.wustl.edu 37 1 85029068 85029068 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 85029068 85029068 G A SNP CTBS ENST00000370630 human ensembl 74_37 -1 known missense c.829 p.R277W 0.997 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CTBS HGNC ENSG00000117151 50 0 0 57 11 16.1765 CLCA4 0 genome.wustl.edu 37 1 87040313 87040313 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 87040313 87040313 C T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.1558 p.L520F 0.992 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 76 0 0 91 26 22.2222 BARHL2 0 genome.wustl.edu 37 1 91180162 91180162 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 91180162 91180162 C T SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known silent c.777 p.V259 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 172 0 0 187 32 14.6119 CLSTN1 0 genome.wustl.edu 37 1 9804579 9804579 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 9804579 9804579 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1108 p.A370T 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 74 0 0 64 15 18.9873 HPS1 0 genome.wustl.edu 37 10 100180013 100180013 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 100180013 100180013 C T SNP HPS1 ENST00000462743 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HPS1 HGNC ENSG00000107521 34 0 0 16 5 23.8095 CHUK 0 genome.wustl.edu 37 10 101950684 101950684 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 101950684 101950684 A C SNP CHUK ENST00000370397 human ensembl 74_37 -1 known missense c.2150 p.L717R 1.000 pfam_IKKbetaNEMObind pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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 CHUK HGNC ENSG00000213341 134 0 0 202 36 15.1261 PPRC1 0 genome.wustl.edu 37 10 103899446 103899446 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 103899446 103899446 T C SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.1181 p.L394P 0.016 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 242 0 0 248 52 17.3333 PSD 0 genome.wustl.edu 37 10 104170668 104170668 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 104170668 104170668 C T SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.2038 p.G680R 0.983 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 141 0 0 156 27 14.7541 MXI1 0 genome.wustl.edu 37 10 112039826 112039826 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 112039826 112039826 G A SNP MXI1 ENST00000332674 human ensembl 74_37 +1 known missense c.707 p.R236H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXI1 HGNC ENSG00000119950 48 0 0 84 15 15.1515 SMC3 0 genome.wustl.edu 37 10 112356237 112356237 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 112356237 112356237 T C SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.2045 p.V682A 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 94 0 0 136 33 19.5266 VTI1A 0 genome.wustl.edu 37 10 114428721 114428721 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 114428721 114428721 G A SNP VTI1A ENST00000393077 human ensembl 74_37 +1 known missense c.524 p.G175E 1.000 smart_T_SNARE_dom pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1A HGNC ENSG00000151532 120 0 0 196 33 14.4105 CASP7 0 genome.wustl.edu 37 10 115489196 115489196 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 115489196 115489196 C T SNP CASP7 ENST00000369321 human ensembl 74_37 +1 known missense c.908 p.A303V 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 115 0 0 140 12 7.89474 EIF3A 0 genome.wustl.edu 37 10 120810113 120810113 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 120810113 120810113 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.2393 p.R798H 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 245 0 0 316 80 20.202 INPP5F 0 genome.wustl.edu 37 10 121551118 121551118 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 121551118 121551118 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.405 p.T135 0.506 pfam_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 79 0 0 136 14 9.33333 TACC2 0 genome.wustl.edu 37 10 123845448 123845448 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 123845448 123845448 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known nonsense c.3433 p.Q1145* 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 78 0 0 58 10 14.7059 PLEKHA1 0 genome.wustl.edu 37 10 124159891 124159891 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 124159891 124159891 G A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known silent c.231 p.A77 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 94 0 0 173 29 14.3564 CPXM2 0 genome.wustl.edu 37 10 125539757 125539757 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 125539757 125539757 A G SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.904 p.Y302H 1.000 NULL 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 77 0 0 120 29 19.4631 CLRN3 0 genome.wustl.edu 37 10 129676547 129676547 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 129676547 129676547 G A SNP CLRN3 ENST00000368671 human ensembl 74_37 -1 known missense c.547 p.L183F 1.000 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 173 0 0 234 38 13.9706 UCMA 0 genome.wustl.edu 37 10 13276240 13276240 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 13276240 13276240 C T SNP UCMA ENST00000378681 human ensembl 74_37 -1 known missense c.19 p.V7I 0.001 NULL NULL - no_errors UCMA HGNC ENSG00000165623 43 0 0 51 12 19.0476 KNDC1 0 genome.wustl.edu 37 10 135015099 135015099 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 135015099 135015099 A G SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.3090 p.G1030 0.018 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 131 0 0 131 18 12.0805 ACBD7 0 genome.wustl.edu 37 10 15120960 15120960 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 15120960 15120960 C T SNP ACBD7 ENST00000356189 human ensembl 74_37 -1 known missense c.92 p.G31E 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD7 HGNC ENSG00000176244 107 0 0 184 41 18.2222 KIAA1217 0 genome.wustl.edu 37 10 24833185 24833185 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 24833185 24833185 C A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.4986 p.T1662 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 109 0 0 108 19 14.9606 LYZL2 0 genome.wustl.edu 37 10 30900913 30900913 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 30900913 30900913 C T SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known missense c.556 p.D186N 0.242 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 318 0 0 460 72 13.5338 ARHGAP12 0 genome.wustl.edu 37 10 32150382 32150382 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 32150382 32150382 G A SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known missense c.889 p.R297C 1.000 superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 49 0 0 92 15 14.0187 ENSG00000264248 0 genome.wustl.edu 37 10 323168 323168 + RNA SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 323168 323168 T G SNP ENSG00000264248 ENST00000579524 human ensembl 74_37 +1 novel rna NULL NULL 0.863 - - - no_errors AL603831.1 Clone_based_ensembl_gene ENSG00000264248 35 0 0 34 3 8.10811 KIF5B 0 genome.wustl.edu 37 10 32329381 32329381 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 32329381 32329381 T C SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known silent c.219 p.V73 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 40 0 0 43 11 20.3704 C10orf68 0 genome.wustl.edu 37 10 33094009 33094009 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 33094009 33094009 A G SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1001 p.Q334R 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 115 0 0 170 33 16.2562 ITGB1 0 genome.wustl.edu 37 10 33208930 33208930 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 33208930 33208930 G A SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1352 p.T451M 0.994 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 146 0 0 211 37 14.9194 ZNF33B 0 genome.wustl.edu 37 10 43088290 43088290 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 43088290 43088290 C T SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.2108 p.S703N 0.791 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 ZNF33B HGNC ENSG00000196693 106 0 0 143 25 14.881 ZNF33B 0 genome.wustl.edu 37 10 43089580 43089580 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 43089580 43089580 C T SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.818 p.S273N 0.996 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 82 0 0 114 28 19.7183 ENSG00000234864 0 genome.wustl.edu 37 10 43199722 43199722 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 43199722 43199722 T C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 28 0 0 16 8 33.3333 C10orf10 0 genome.wustl.edu 37 10 45472929 45472929 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 45472929 45472929 C T SNP C10orf10 ENST00000298295 human ensembl 74_37 -1 known missense c.550 p.A184T 0.000 NULL NULL - no_errors C10orf10 HGNC ENSG00000165507 149 1 0.666667 106 21 16.5354 GDF2 0 genome.wustl.edu 37 10 48414152 48414152 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 48414152 48414152 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.716 p.T239M 0.112 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 102 0 0 84 19 18.4466 PCDH15 0 genome.wustl.edu 37 10 55996585 55996585 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 55996585 55996585 A T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.983 p.V328D 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 113 0 0 146 27 15.6069 ZWINT 0 genome.wustl.edu 37 10 58118436 58118436 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 58118436 58118436 A T SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.673 p.F225I 0.000 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 94 0 0 79 14 15.0538 ZWINT 0 genome.wustl.edu 37 10 58118660 58118660 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 58118660 58118660 G A SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.529 p.R177C 0.004 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 112 0 0 158 16 9.1954 ANK3 0 genome.wustl.edu 37 10 61846455 61846455 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 61846455 61846455 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3728 p.R1243H 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 68 0 0 102 18 15 PFKFB3 0 genome.wustl.edu 37 10 6270174 6270174 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 6270174 6270174 G T SNP PFKFB3 ENST00000379782 human ensembl 74_37 +1 known missense c.1531 p.A511S 1.000 NULL pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 60 0 0 87 23 20.9091 EGR2 0 genome.wustl.edu 37 10 64573145 64573145 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 64573145 64573145 T G SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.1253 p.K418T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 142 0 0 122 25 17.0068 PALD1 0 genome.wustl.edu 37 10 72298102 72298102 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 72298102 72298102 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.1390 p.P464S 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 66 0 0 58 11 15.942 OIT3 0 genome.wustl.edu 37 10 74684343 74684343 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 74684343 74684343 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known silent c.1308 p.C436 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 59 0 0 80 8 9.09091 TTC18 0 genome.wustl.edu 37 10 75051761 75051761 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 75051761 75051761 A G SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known silent c.1992 p.R664 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 132 0 0 135 41 23.2955 MYOZ1 0 genome.wustl.edu 37 10 75394400 75394400 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 75394400 75394400 C T SNP MYOZ1 ENST00000359322 human ensembl 74_37 -1 known missense c.344 p.G115D 0.010 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC ENSG00000177791 121 0 0 86 14 14 KCNMA1 0 genome.wustl.edu 37 10 78651329 78651329 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 78651329 78651329 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.3308 p.R1103H 0.997 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 64 0 0 59 12 16.9014 KCNMA1 0 genome.wustl.edu 37 10 78846314 78846314 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 78846314 78846314 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known nonsense c.1372 p.R458* 1.000 pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 54 0 0 61 10 14.0845 ZMIZ1 0 genome.wustl.edu 37 10 81056357 81056357 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 81056357 81056357 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.1360 p.P454S 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 135 0 0 160 10 5.88235 WAPAL 0 genome.wustl.edu 37 10 88260130 88260130 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 88260130 88260130 T C SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known silent c.870 p.P290 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 129 0 0 192 35 15.4185 ANKRD22 0 genome.wustl.edu 37 10 90582744 90582744 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 90582744 90582744 C T SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known missense c.530 p.R177K 0.999 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 89 0 0 163 37 18.5 IFIT1 0 genome.wustl.edu 37 10 91162182 91162182 + Nonsense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 91162182 91162182 C G SNP IFIT1 ENST00000371804 human ensembl 74_37 +1 known nonsense c.150 p.Y50* 0.504 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 73 0 0 108 22 16.9231 KIF20B 0 genome.wustl.edu 37 10 91477457 91477457 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 91477457 91477457 T C SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known silent c.1249 p.L417 0.938 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_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 KIF20B HGNC ENSG00000138182 77 0 0 158 25 13.6612 TNKS2 0 genome.wustl.edu 37 10 93608141 93608141 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 93608141 93608141 C T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.2360 p.A787V 1.000 superfamily_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 TNKS2 HGNC ENSG00000107854 75 0 0 114 20 14.9254 PLCE1 0 genome.wustl.edu 37 10 96066371 96066371 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 96066371 96066371 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.5810 p.R1937H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 103 1 0.961538 89 21 19.0909 SORBS1 0 genome.wustl.edu 37 10 97174285 97174285 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 97174285 97174285 G A SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.776 p.S259L 0.943 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 81 0 0 91 26 22.2222 MMP8 0 genome.wustl.edu 37 11 102593283 102593283 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 102593283 102593283 G A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.224 p.T75M 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 119 0 0 168 31 15.5779 DYNC2H1 0 genome.wustl.edu 37 11 102988484 102988484 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 102988484 102988484 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.891 p.V297 0.817 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 53 0 0 97 21 17.7966 DYNC2H1 0 genome.wustl.edu 37 11 103041695 103041695 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 103041695 103041695 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.5232 p.N1744 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 41 0 0 39 3 7.14286 DYNC2H1 0 genome.wustl.edu 37 11 103194690 103194690 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 103194690 103194690 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12032 p.R4011H 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 30 0 0 47 15 24.1935 DYNC2H1 0 genome.wustl.edu 37 11 103270461 103270461 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 103270461 103270461 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12248 p.I4083T 0.992 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 39 0 0 49 16 24.6154 PDGFD 0 genome.wustl.edu 37 11 103797725 103797725 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 103797725 103797725 C T SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.902 p.R301H 1.000 pfam_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 52 0 0 60 10 14.2857 NXPE1 0 genome.wustl.edu 37 11 114400914 114400914 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 114400914 114400914 T A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.816 p.E272D 0.221 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 76 0 0 86 21 19.6262 CADM1 0 genome.wustl.edu 37 11 115088664 115088664 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 115088664 115088664 T G SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.769 p.T257P 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 54 0 0 72 13 15.2941 SCN2B 0 genome.wustl.edu 37 11 118047107 118047107 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 118047107 118047107 G T SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.40 p.L14I 0.999 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 130 0 0 152 20 11.6279 MICAL2 0 genome.wustl.edu 37 11 12281433 12281433 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 12281433 12281433 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3323 p.G1108D 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 60 0 0 53 10 15.873 OR10G7 0 genome.wustl.edu 37 11 123909037 123909037 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 123909037 123909037 G A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known silent c.672 p.I224 0.075 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 174 0 0 137 27 16.4634 VWA5A 0 genome.wustl.edu 37 11 124007944 124007944 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 124007944 124007944 T C SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known silent c.1848 p.A616 0.023 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 75 0 0 93 17 15.4545 ROBO4 0 genome.wustl.edu 37 11 124765380 124765380 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 124765380 124765380 C T SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.1009 p.V337M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 141 0 0 135 27 16.6667 CCDC15 0 genome.wustl.edu 37 11 124908371 124908371 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 124908371 124908371 G A SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.2456 p.R819K 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 12 0 0 12 3 20 FEZ1 0 genome.wustl.edu 37 11 125359542 125359542 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 125359542 125359542 G A SNP FEZ1 ENST00000278919 human ensembl 74_37 -1 known silent c.132 p.S44 0.322 NULL pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 109 0 0 116 18 13.4328 CDON 0 genome.wustl.edu 37 11 125889551 125889551 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 125889551 125889551 G A SNP CDON ENST00000392693 human ensembl 74_37 -1 known silent c.459 p.R153 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 192 0 0 254 57 18.328 SRPR 0 genome.wustl.edu 37 11 126133915 126133915 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 126133915 126133915 A G SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.1813 p.Y605H 1.000 pfam_SRP54_GTPase_dom,superfamily_P-loop_NTPase,smart_SRP54_GTPase_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 132 0 0 101 21 17.2131 MUC5B 0 genome.wustl.edu 37 11 1263956 1263956 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 1263956 1263956 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.5855 p.T1952I 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 333 0 0 229 17 6.91057 MUC5B 0 genome.wustl.edu 37 11 1263965 1263965 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 1263965 1263965 A G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.5864 p.K1955R 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 359 0 0 237 14 5.57769 TOLLIP 0 genome.wustl.edu 37 11 1311572 1311572 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 1311572 1311572 G A SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.251 p.A84V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 72 0 0 61 4 6.15385 NTM 0 genome.wustl.edu 37 11 132184590 132184590 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 132184590 132184590 G C SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.927 p.M309I 0.902 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 58 0 0 70 15 17.6471 SPATA19 0 genome.wustl.edu 37 11 133714492 133714492 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 133714492 133714492 A G SNP SPATA19 ENST00000299140 human ensembl 74_37 -1 known missense c.179 p.I60T 0.000 NULL NULL - no_errors SPATA19 HGNC ENSG00000166118 90 0 0 100 11 9.90991 ACAD8 0 genome.wustl.edu 37 11 134126459 134126459 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 134126459 134126459 G A SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known missense c.127 p.E43K 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 60 0 0 65 11 14.4737 NAV2 0 genome.wustl.edu 37 11 19955107 19955107 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 19955107 19955107 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.1386 p.S462 0.018 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 91 0 0 117 22 15.8273 TSSC4 0 genome.wustl.edu 37 11 2424091 2424091 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 2424091 2424091 G A SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known silent c.228 p.T76 0.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 16 0 0 15 10 40 BBOX1 0 genome.wustl.edu 37 11 27114773 27114773 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 27114773 27114773 A G SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known silent c.393 p.L131 0.856 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 82 0 0 110 17 13.3858 QSER1 0 genome.wustl.edu 37 11 32953671 32953671 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 32953671 32953671 G A SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known silent c.480 p.Q160 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 144 0 0 178 37 17.2093 CAPRIN1 0 genome.wustl.edu 37 11 34093453 34093453 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 34093453 34093453 C T SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known silent c.285 p.A95 0.002 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 36 0 0 77 9 10.4651 TSSC2 0 genome.wustl.edu 37 11 3423918 3423918 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 3423918 3423918 G A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TSSC2 HGNC ENSG00000223756 40 0 0 45 8 15.0943 CAT 0 genome.wustl.edu 37 11 34478308 34478308 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 34478308 34478308 T G SNP CAT ENST00000241052 human ensembl 74_37 +1 known missense c.1000 p.F334V 1.000 pfam_Catalase_core,superfamily_Catalase-like_dom,prints_Catalase pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 75 0 0 77 21 21.4286 SLC1A2 0 genome.wustl.edu 37 11 35336618 35336618 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 35336618 35336618 T C SNP SLC1A2 ENST00000278379 human ensembl 74_37 -1 known missense c.262 p.M88V 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 72 0 0 117 15 11.3636 NUP98 0 genome.wustl.edu 37 11 3697439 3697439 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 3697439 3697439 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5353 p.R1785C 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 73 0 0 97 16 14.1593 OR52M1 0 genome.wustl.edu 37 11 4566596 4566596 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 4566596 4566596 A C SNP OR52M1 ENST00000360213 human ensembl 74_37 +1 known missense c.176 p.Q59P 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52M1 HGNC ENSG00000197790 92 0 0 88 24 21.4286 CHST1 0 genome.wustl.edu 37 11 45672299 45672299 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 45672299 45672299 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.175 p.R59C 0.816 superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 125 0 0 121 19 13.5714 F2 0 genome.wustl.edu 37 11 46741326 46741326 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 46741326 46741326 C T SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.154 p.R52C 0.073 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,prints_GLA_domain pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 15 0 0 15 6 28.5714 OR52R1 0 genome.wustl.edu 37 11 4825712 4825712 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 4825712 4825712 C T SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.136 p.V46I 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 93 0 0 135 21 13.4615 OR51G1 0 genome.wustl.edu 37 11 4945416 4945416 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 4945416 4945416 A G SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.154 p.C52R 0.047 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 OR51G1 HGNC ENSG00000176879 60 0 0 76 7 8.43373 MMP26 0 genome.wustl.edu 37 11 5011865 5011865 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 5011865 5011865 G C SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.358 p.V120L 0.143 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 73 0 0 103 18 14.876 OR52D1 0 genome.wustl.edu 37 11 5510494 5510494 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 5510494 5510494 C T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known silent c.558 p.G186 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 224 0 0 266 58 17.9012 OR5W2 0 genome.wustl.edu 37 11 55681486 55681486 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 55681486 55681486 A G SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known silent c.573 p.D191 0.105 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 OR5W2 HGNC ENSG00000187612 78 0 0 116 21 15.3285 OR5F1 0 genome.wustl.edu 37 11 55761559 55761559 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 55761559 55761559 A G SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known silent c.543 p.S181 0.000 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 OR5F1 HGNC ENSG00000149133 94 0 0 112 24 17.6471 SLC43A3 0 genome.wustl.edu 37 11 57182520 57182520 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 57182520 57182520 G A SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.829 p.R277W 0.035 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 130 0 0 156 16 9.30233 CTNND1 0 genome.wustl.edu 37 11 57563079 57563079 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 57563079 57563079 C A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.298 p.P100T 0.998 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 21 0 0 37 9 19.5652 OR5B12 0 genome.wustl.edu 37 11 58206945 58206945 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 58206945 58206945 C T SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.680 p.R227H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 68 0 0 87 13 13 OR52E8 0 genome.wustl.edu 37 11 5878343 5878343 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 5878343 5878343 C T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.590 p.S197N 0.979 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 OR52E8 HGNC ENSG00000183269 131 0 0 102 12 10.5263 FAM111B 0 genome.wustl.edu 37 11 58891683 58891683 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 58891683 58891683 C T SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.113 p.T38I 0.056 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 89 0 0 121 15 11.0294 OR5A2 0 genome.wustl.edu 37 11 59190023 59190023 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 59190023 59190023 A T SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known missense c.404 p.V135D 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 83 0 0 76 18 19.1489 OR10V1 0 genome.wustl.edu 37 11 59481150 59481150 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 59481150 59481150 T C SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known missense c.169 p.T57A 0.938 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 OR10V1 HGNC ENSG00000172289 54 0 0 57 12 17.3913 PRPF19 0 genome.wustl.edu 37 11 60670301 60670301 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 60670301 60670301 C T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known missense c.299 p.R100H 1.000 pfam_Pre-mRNA_splic_Prp19 pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 57 0 0 46 4 8 DDB1 0 genome.wustl.edu 37 11 61081893 61081893 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 61081893 61081893 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.1476 p.E492 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 268 0 0 297 49 14.1618 DAK 0 genome.wustl.edu 37 11 61111667 61111667 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 61111667 61111667 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known silent c.1162 p.L388 1.000 superfamily_DhaL_dom,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 58 0 0 50 10 16.6667 OR56B3P 0 genome.wustl.edu 37 11 6150056 6150056 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 6150056 6150056 C A SNP OR56B3P ENST00000316517 human ensembl 74_37 +1 known missense c.217 p.L73M 0.038 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 - no_errors OR56B3P HGNC ENSG00000180913 38 0 0 27 5 15.625 MYRF 0 genome.wustl.edu 37 11 61533551 61533551 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 61533551 61533551 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.256 p.R86C 0.922 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 43 0 0 31 5 13.8889 INTS5 0 genome.wustl.edu 37 11 62416784 62416784 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 62416784 62416784 A G SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.768 p.A256 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 136 0 0 138 20 12.6582 FAM160A2 0 genome.wustl.edu 37 11 6244441 6244441 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 6244441 6244441 A G SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.805 p.Y269H 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 221 0 0 214 44 17.0543 BSCL2 0 genome.wustl.edu 37 11 62458891 62458891 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 62458891 62458891 T C SNP BSCL2 ENST00000360796 human ensembl 74_37 -1 known missense c.866 p.Y289C 1.000 pfam_Adipose-reg_protein_Seipin pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 65 0 0 80 15 15.7895 SLC22A6 0 genome.wustl.edu 37 11 62751957 62751957 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 62751957 62751957 C T SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.206 p.R69Q 0.962 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 96 0 0 87 23 20.9091 RPS6KA4 0 genome.wustl.edu 37 11 64126901 64126901 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 64126901 64126901 T C SNP RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known missense c.107 p.L36P 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 50 0 0 48 11 18.6441 SLC22A12 0 genome.wustl.edu 37 11 64360339 64360339 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 64360339 64360339 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.491 p.G164D 0.407 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 SLC22A12 HGNC ENSG00000197891 111 0 0 117 12 9.30233 PYGM 0 genome.wustl.edu 37 11 64523002 64523002 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 64523002 64523002 G T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.689 p.P230H 0.996 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 79 0 0 65 13 16.6667 CDC42BPG 0 genome.wustl.edu 37 11 64601436 64601436 + Silent SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 64601436 64601436 T A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.2427 p.S809 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 348 1 0.286533 293 78 21.0243 SPDYC 0 genome.wustl.edu 37 11 64940437 64940437 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 64940437 64940437 G A SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.799 p.V267I 0.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 140 0 0 125 25 16.6667 FRMD8 0 genome.wustl.edu 37 11 65167304 65167304 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65167304 65167304 G A SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known missense c.901 p.V301M 1.000 pfscan_FERM_domain pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 187 0 0 177 28 13.6585 MALAT1 0 genome.wustl.edu 37 11 65271041 65271041 + RNA SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65271041 65271041 A G SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 0.298 - - - no_errors MALAT1 HGNC ENSG00000251562 83 0 0 124 26 17.3333 MAP3K11 0 genome.wustl.edu 37 11 65375801 65375801 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65375801 65375801 G A SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.858 p.Y286 0.994 pirsf_MAPKKK9/10/11,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 71 0 0 80 14 14.8936 PCNXL3 0 genome.wustl.edu 37 11 65392940 65392940 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65392940 65392940 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3094 p.E1032K 0.998 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 70 0 0 107 21 16.4062 RNASEH2C 0 genome.wustl.edu 37 11 65487870 65487870 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65487870 65487870 C T SNP RNASEH2C ENST00000308418 human ensembl 74_37 -1 known missense c.191 p.R64Q 1.000 pfam_RNase_H2_suC pfam_RNase_H2_suC - no_errors RNASEH2C HGNC ENSG00000172922 94 0 0 107 21 16.4062 SNX32 0 genome.wustl.edu 37 11 65617022 65617022 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65617022 65617022 G A SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.110 p.R37Q 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 108 0 0 135 18 11.7647 EIF1AD 0 genome.wustl.edu 37 11 65767776 65767776 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65767776 65767776 T C SNP EIF1AD ENST00000312234 human ensembl 74_37 -1 known missense c.85 p.R29G 0.999 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 - no_errors EIF1AD HGNC ENSG00000175376 32 0 0 24 8 25 SLC29A2 0 genome.wustl.edu 37 11 66136983 66136983 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 66136983 66136983 G T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known silent c.132 p.A44 0.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 304 0 0 331 77 18.8725 TPP1 0 genome.wustl.edu 37 11 6638276 6638276 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 6638276 6638276 C T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.617 p.R206H 0.997 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 90 0 0 66 12 15.3846 PC 0 genome.wustl.edu 37 11 66616805 66616805 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 66616805 66616805 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.3184 p.A1062T 1.000 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 84 0 0 93 20 17.6991 ADRBK1 0 genome.wustl.edu 37 11 67051736 67051736 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 67051736 67051736 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.1546 p.R516W 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 152 0 0 133 28 17.3913 RAD9A 0 genome.wustl.edu 37 11 67163272 67163272 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 67163272 67163272 C T SNP RAD9A ENST00000307980 human ensembl 74_37 +1 known missense c.535 p.R179C 0.997 pfam_Rad9/Ddc1,pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9A HGNC ENSG00000172613 74 0 0 55 8 12.6984 LRP5 0 genome.wustl.edu 37 11 68201164 68201164 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 68201164 68201164 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.3858 p.C1286 0.517 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 229 0 0 245 33 11.8705 ANO1 0 genome.wustl.edu 37 11 70033855 70033855 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 70033855 70033855 G A SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2706 p.M902I 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 24 0 0 29 3 9.375 ZNF705E 0 genome.wustl.edu 37 11 71529837 71529837 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 71529837 71529837 G A SNP ZNF705E ENST00000525199 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZNF705E HGNC ENSG00000214534 79 0 0 124 24 16.2162 ARHGEF17 0 genome.wustl.edu 37 11 73076913 73076913 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 73076913 73076913 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.5916 p.H1972 0.969 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 82 0 0 80 15 15.7895 B3GNT6 0 genome.wustl.edu 37 11 76751257 76751257 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 76751257 76751257 G A SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.662 p.G221D 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 82 0 0 96 21 17.9487 TENM4 0 genome.wustl.edu 37 11 78412903 78412903 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 78412903 78412903 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.4755 p.E1585 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 153 0 0 162 41 20.197 CCDC90B 0 genome.wustl.edu 37 11 82996916 82996916 + Nonsense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 82996916 82996916 C A SNP CCDC90B ENST00000529689 human ensembl 74_37 -1 known nonsense c.100 p.E34* 1.000 NULL pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 23 0 0 32 2 5.88235 SYTL2 0 genome.wustl.edu 37 11 85411568 85411568 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 85411568 85411568 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known silent c.4881 p.E1627 0.945 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 93 0 0 107 21 16.4062 SYTL2 0 genome.wustl.edu 37 11 85437014 85437014 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 85437014 85437014 T G SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.2058 p.K686N 0.594 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 101 0 0 152 31 16.9399 EED 0 genome.wustl.edu 37 11 85975274 85975274 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 85975274 85975274 T C SNP EED ENST00000263360 human ensembl 74_37 +1 known missense c.695 p.V232A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 107 0 0 165 37 18.3168 FZD4 0 genome.wustl.edu 37 11 86662374 86662374 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 86662374 86662374 G A SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known missense c.1424 p.A475V 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 99 0 0 168 29 14.7208 NOX4 0 genome.wustl.edu 37 11 89177323 89177323 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 89177323 89177323 C T SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.490 p.A164T 0.997 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 129 0 0 183 25 12.0192 FAT3 0 genome.wustl.edu 37 11 92533963 92533963 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 92533963 92533963 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7784 p.D2595G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 41 0 0 47 9 16.0714 TAF1D 0 genome.wustl.edu 37 11 93471428 93471428 + Silent SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 93471428 93471428 T A SNP TAF1D ENST00000323981 human ensembl 74_37 -1 known silent c.306 p.T102 0.545 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 116 0 0 216 37 14.6245 MRE11A 0 genome.wustl.edu 37 11 94197320 94197320 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 94197320 94197320 A G SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known missense c.1184 p.I395T 1.000 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 75 0 0 113 15 11.7188 IPO7 0 genome.wustl.edu 37 11 9430059 9430059 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 9430059 9430059 A G SNP IPO7 ENST00000379719 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,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 27 0 0 43 6 12.2449 MTMR2 0 genome.wustl.edu 37 11 95580894 95580894 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 95580894 95580894 C T SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known nonsense c.1163 p.W388* 1.000 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 91 0 0 117 19 13.9706 CNTN5 0 genome.wustl.edu 37 11 99944909 99944909 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 99944909 99944909 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1463 p.K488T 0.981 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 18 0 0 32 4 11.1111 FAM71C 0 genome.wustl.edu 37 12 100042149 100042149 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 100042149 100042149 C T SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.197 p.A66V 0.000 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 109 0 0 122 50 29.0698 GOLGA2P5 0 genome.wustl.edu 37 12 100560276 100560276 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 100560276 100560276 G A SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 53 0 0 90 16 15.0943 ANO4 0 genome.wustl.edu 37 12 101493484 101493484 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 101493484 101493484 A G SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.2135 p.E712G 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 64 0 0 102 13 11.3043 ASCL1 0 genome.wustl.edu 37 12 103352344 103352344 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 103352344 103352344 T G SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known missense c.322 p.F108V 1.000 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 21 0 0 36 9 20 POLR3B 0 genome.wustl.edu 37 12 106770229 106770229 + Splice_Site SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 106770229 106770229 G A SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known splice_site c.496+1 e7+1 1.000 - - - no_errors POLR3B HGNC ENSG00000013503 62 0 0 113 14 11.0236 RFX4 0 genome.wustl.edu 37 12 106995084 106995084 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 106995084 106995084 G A SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known silent c.30 p.A10 0.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 15 0 0 15 3 16.6667 LOC101929162 0 genome.wustl.edu 37 12 108133102 108133102 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 108133102 108133102 G A SNP LOC101929162 ENST00000546714 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-864J10.4 Clone_based_vega_gene ENSG00000258136 85 0 0 75 29 27.8846 ASCL4 0 genome.wustl.edu 37 12 108169429 108169429 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 108169429 108169429 G A SNP ASCL4 ENST00000342331 human ensembl 74_37 +1 known missense c.437 p.R146H 0.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 16 0 0 22 11 33.3333 SART3 0 genome.wustl.edu 37 12 108929213 108929213 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 108929213 108929213 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.1478 p.R493Q 1.000 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 181 0 0 273 42 13.3333 ACACB 0 genome.wustl.edu 37 12 109605836 109605836 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 109605836 109605836 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.922 p.A308T 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 81 0 0 90 9 9.09091 ACACB 0 genome.wustl.edu 37 12 109685505 109685505 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 109685505 109685505 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5666 p.S1889F 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 111 0 0 153 32 17.2973 UBE3B 0 genome.wustl.edu 37 12 109936110 109936110 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 109936110 109936110 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.892 p.R298C 0.002 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 130 0 0 232 45 16.2455 GLTP 0 genome.wustl.edu 37 12 110293513 110293513 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 110293513 110293513 G T SNP GLTP ENST00000318348 human ensembl 74_37 -1 known missense c.358 p.H120N 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTP HGNC ENSG00000139433 80 0 0 84 36 30 C12orf76 0 genome.wustl.edu 37 12 110489049 110489049 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 110489049 110489049 G A SNP C12orf76 ENST00000548191 human ensembl 74_37 -1 putative missense c.62 p.T21M 0.000 NULL pfam_P2X_purnocptor - no_errors C12orf76 HGNC ENSG00000174456 14 0 0 18 10 35.7143 BRAP 0 genome.wustl.edu 37 12 112120995 112120995 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 112120995 112120995 G A SNP BRAP ENST00000419234 human ensembl 74_37 -1 known nonsense c.199 p.R67* 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 108 0 0 159 69 30.2632 ACAD10 0 genome.wustl.edu 37 12 112150444 112150444 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 112150444 112150444 T A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.926 p.L309Q 0.998 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 165 0 0 267 44 14.1479 MAPKAPK5-AS1 0 genome.wustl.edu 37 12 112280504 112280504 + RNA SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 112280504 112280504 T G SNP MAPKAPK5-AS1 ENST00000428207 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MAPKAPK5-AS1 HGNC ENSG00000234608 19 0 0 14 5 26.3158 NAA25 0 genome.wustl.edu 37 12 112498103 112498103 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 112498103 112498103 T C SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.1418 p.H473R 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 61 0 0 96 38 28.3582 TAS2R42 0 genome.wustl.edu 37 12 11338670 11338670 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 11338670 11338670 G A SNP TAS2R42 ENST00000334266 human ensembl 74_37 -1 known nonsense c.874 p.R292* 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 46 0 0 94 16 14.5455 DDX54 0 genome.wustl.edu 37 12 113603672 113603672 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 113603672 113603672 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1580 p.S527L 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 70 0 0 74 25 25.2525 TAOK3 0 genome.wustl.edu 37 12 118636898 118636898 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 118636898 118636898 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.1152 p.D384 0.069 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 TAOK3 HGNC ENSG00000135090 110 0 0 124 45 26.6272 TAOK3 0 genome.wustl.edu 37 12 118637023 118637023 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 118637023 118637023 T C SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1027 p.S343G 1.000 superfamily_Kinase-like_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 TAOK3 HGNC ENSG00000135090 51 0 0 73 21 22.3404 SRRM4 0 genome.wustl.edu 37 12 119592100 119592100 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 119592100 119592100 C T SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known nonsense c.1444 p.R482* 0.642 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 35 0 0 36 12 25 CCDC60 0 genome.wustl.edu 37 12 119773056 119773056 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 119773056 119773056 G A SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known silent c.75 p.S25 0.007 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 124 0 0 123 52 29.7143 SPPL3 0 genome.wustl.edu 37 12 121206174 121206174 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 121206174 121206174 G A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 220 0 0 269 50 15.674 VPS33A 0 genome.wustl.edu 37 12 122750936 122750936 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 122750936 122750936 T C SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known missense c.20 p.Y7C 0.997 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 72 0 0 96 12 11.1111 ENSG00000256249 0 genome.wustl.edu 37 12 123200107 123200107 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 123200107 123200107 C T SNP ENSG00000256249 ENST00000543611 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000256249 107 0 0 211 31 12.8099 PITPNM2 0 genome.wustl.edu 37 12 123480010 123480010 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 123480010 123480010 T C SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.1980 p.Q660 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 134 0 0 141 26 15.5689 SETD8 0 genome.wustl.edu 37 12 123889559 123889559 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 123889559 123889559 C T SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known silent c.786 p.Y262 0.307 pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 64 0 0 61 25 29.0698 DNAH10 0 genome.wustl.edu 37 12 124267714 124267714 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 124267714 124267714 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.719 p.A240V 0.004 NULL 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 98 0 0 111 26 18.9781 DNAH10 0 genome.wustl.edu 37 12 124330559 124330559 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 124330559 124330559 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5318 p.R1773Q 1.000 NULL 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 202 0 0 180 69 27.7108 TMEM132B 0 genome.wustl.edu 37 12 126138173 126138173 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 126138173 126138173 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.2154 p.Y718 0.849 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 107 0 0 157 53 25.2381 LOC101927735 0 genome.wustl.edu 37 12 129694237 129694237 + RNA SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 129694237 129694237 C A SNP LOC101927735 ENST00000542578 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors RP11-669N7.3 Clone_based_vega_gene ENSG00000256699 86 0 0 75 15 16.6667 FZD10 0 genome.wustl.edu 37 12 130648605 130648605 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 130648605 130648605 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.1118 p.R373H 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 105 0 0 85 15 15 RIMBP2 0 genome.wustl.edu 37 12 130929742 130929742 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 130929742 130929742 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.603 p.Y201 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 109 0 0 128 40 23.8095 KIAA1467 0 genome.wustl.edu 37 12 13214536 13214536 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 13214536 13214536 T C SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.560 p.V187A 0.950 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 37 0 0 50 10 16.6667 CHFR 0 genome.wustl.edu 37 12 133435665 133435665 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 133435665 133435665 G A SNP CHFR ENST00000266880 human ensembl 74_37 -1 known silent c.936 p.H312 0.017 smart_Znf_RING,pfscan_Znf_RING pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 54 0 0 49 20 28.9855 GRIN2B 0 genome.wustl.edu 37 12 13715771 13715771 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 13715771 13715771 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.4401 p.G1467 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 162 0 0 287 52 15.3392 ATF7IP 0 genome.wustl.edu 37 12 14577701 14577701 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 14577701 14577701 C A SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known silent c.852 p.T284 0.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 109 0 0 174 21 10.7692 PTPRO 0 genome.wustl.edu 37 12 15669846 15669846 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 15669846 15669846 A G SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.1735 p.T579A 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 144 0 0 282 16 5.36913 FBXL14 0 genome.wustl.edu 37 12 1702997 1702997 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 1702997 1702997 C T SNP FBXL14 ENST00000339235 human ensembl 74_37 -1 known missense c.236 p.R79H 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,pfam_Leu-rich_rpt_2,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 83 0 0 83 36 30.2521 PLEKHA5 0 genome.wustl.edu 37 12 19427737 19427737 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 19427737 19427737 G A SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.1115 p.S372N 0.982 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 71 0 0 137 20 12.7389 DCP1B 0 genome.wustl.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 2062350 2062350 C G SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.756 p.Q252H 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 63 0 0 117 10 7.87402 ST8SIA1 0 genome.wustl.edu 37 12 22354742 22354742 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 22354742 22354742 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.815 p.R272H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 93 0 0 107 20 15.748 LINC00477 0 genome.wustl.edu 37 12 24736364 24736364 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 24736364 24736364 C T SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors LINC00477 HGNC ENSG00000197503 43 0 0 35 9 20.4545 CACNA1C 0 genome.wustl.edu 37 12 2706448 2706448 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 2706448 2706448 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2846 p.A949V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 187 0 0 287 44 13.2931 CACNA1C 0 genome.wustl.edu 37 12 2714915 2714915 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 2714915 2714915 A C SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.3119 p.Q1040P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 75 0 0 84 20 19.2308 OVCH1 0 genome.wustl.edu 37 12 29604296 29604296 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 29604296 29604296 T G SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2737 p.S913R 0.001 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 30 0 0 31 10 24.3902 IPO8 0 genome.wustl.edu 37 12 30827606 30827606 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 30827606 30827606 G A SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.811 p.R271W 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 182 0 0 314 53 14.4414 KIF21A 0 genome.wustl.edu 37 12 39727030 39727030 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 39727030 39727030 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2471 p.R824H 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 172 0 0 281 74 20.8451 KDM5A 0 genome.wustl.edu 37 12 443491 443491 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 443491 443491 G T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1406 p.P469Q 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 210 0 0 319 33 9.375 KCNA6 0 genome.wustl.edu 37 12 4919254 4919254 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 4919254 4919254 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.47 p.R16H 0.662 prints_K_chnl_volt-dep_Kv1.6 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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 63 0 0 118 16 11.9403 POU6F1 0 genome.wustl.edu 37 12 51584325 51584325 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 51584325 51584325 A G SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.611 p.V204A 1.000 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 - no_errors POU6F1 HGNC ENSG00000184271 214 0 0 337 46 12.0104 ANKRD33 0 genome.wustl.edu 37 12 52284676 52284676 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 52284676 52284676 G A SNP ANKRD33 ENST00000340970 human ensembl 74_37 +1 known missense c.571 p.A191T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 44 0 0 71 12 14.4578 KRT81 0 genome.wustl.edu 37 12 52681817 52681817 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 52681817 52681817 T C SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.851 p.D284G 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 118 0 0 146 20 12.0482 KRT6A 0 genome.wustl.edu 37 12 52881539 52881539 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 52881539 52881539 T A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.1660 p.T554S 0.280 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 129 0 0 111 45 28.8462 KRT4 0 genome.wustl.edu 37 12 53207679 53207679 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 53207679 53207679 A G SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.386 p.L129P 0.807 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 319 0 0 428 47 9.89474 SPRYD3 0 genome.wustl.edu 37 12 53470932 53470932 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 53470932 53470932 A C SNP SPRYD3 ENST00000301463 human ensembl 74_37 -1 known missense c.137 p.F46C 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 90 0 0 154 51 24.878 NCKAP1L 0 genome.wustl.edu 37 12 54903701 54903701 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 54903701 54903701 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.667 p.R223C 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 167 0 0 249 39 13.5417 ITGA7 0 genome.wustl.edu 37 12 56094815 56094815 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 56094815 56094815 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.538 p.E180K 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 91 0 0 120 18 13.0435 DNAJC14 0 genome.wustl.edu 37 12 56221131 56221131 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 56221131 56221131 G C SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known missense c.1312 p.P438A 1.000 superfamily_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 182 0 0 236 80 25.3165 ERBB3 0 genome.wustl.edu 37 12 56495050 56495050 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 56495050 56495050 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3407 p.R1136H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt 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 66 0 0 81 33 28.9474 SMARCC2 0 genome.wustl.edu 37 12 56566249 56566249 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 56566249 56566249 C T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1796 p.R599H 1.000 superfamily_Homeodomain-like,superfamily_Chromodomain-like,smart_SANT/Myb pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 88 0 0 109 9 7.62712 ANKRD52 0 genome.wustl.edu 37 12 56639297 56639297 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 56639297 56639297 C T SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known silent c.2268 p.T756 0.079 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 92 0 0 80 33 29.2035 MYO1A 0 genome.wustl.edu 37 12 57432416 57432416 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 57432416 57432416 A G SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1540 p.Y514H 1.000 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,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 90 0 0 115 18 13.5338 LRP1 0 genome.wustl.edu 37 12 57577934 57577934 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 57577934 57577934 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.5996 p.R1999H 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 50 0 0 84 30 26.3158 LRP1 0 genome.wustl.edu 37 12 57597035 57597035 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 57597035 57597035 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.10783 p.D3595N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 24 0 0 33 4 10.8108 C12orf66 0 genome.wustl.edu 37 12 64615892 64615892 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 64615892 64615892 C A SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.126 p.E42D 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 41 0 0 37 16 30.1887 LEMD3 0 genome.wustl.edu 37 12 65634842 65634842 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 65634842 65634842 A G SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known missense c.2280 p.I760M 1.000 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 56 0 0 96 11 10.2804 LEMD3 0 genome.wustl.edu 37 12 65639551 65639551 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 65639551 65639551 T C SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known silent c.2490 p.R830 0.995 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 88 0 0 135 25 15.625 DYRK2 0 genome.wustl.edu 37 12 68050891 68050891 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 68050891 68050891 C T SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known silent c.204 p.G68 0.878 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 DYRK2 HGNC ENSG00000127334 64 0 0 80 27 25.2336 SLC35E3 0 genome.wustl.edu 37 12 69140182 69140182 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 69140182 69140182 C T SNP SLC35E3 ENST00000398004 human ensembl 74_37 +1 known missense c.25 p.R9W 0.156 NULL pfam_Tpt_PEP_trans_dom,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 78 0 0 64 13 16.8831 LRRC10 0 genome.wustl.edu 37 12 70004012 70004012 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 70004012 70004012 G A SNP LRRC10 ENST00000361484 human ensembl 74_37 -1 known missense c.607 p.R203C 0.173 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC ENSG00000198812 81 0 0 103 16 13.4454 ATN1 0 genome.wustl.edu 37 12 7046302 7046302 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 7046302 7046302 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1872 p.S624 0.992 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 147 0 0 138 66 32.3529 C1S 0 genome.wustl.edu 37 12 7177639 7177639 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 7177639 7177639 C T SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1751 p.A584V 0.019 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,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 86 0 0 112 16 12.5 THAP2 0 genome.wustl.edu 37 12 72070679 72070679 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 72070679 72070679 C T SNP THAP2 ENST00000308086 human ensembl 74_37 +1 known missense c.478 p.R160C 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP2 HGNC ENSG00000173451 70 0 0 114 16 12.3077 TPH2 0 genome.wustl.edu 37 12 72355427 72355427 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 72355427 72355427 G A SNP TPH2 ENST00000546576 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPH2 HGNC ENSG00000139287 40 0 0 76 15 16.4835 CD163L1 0 genome.wustl.edu 37 12 7527479 7527479 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 7527479 7527479 T C SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.3042 p.V1014 0.000 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 85 0 0 109 29 21.0145 OTOGL 0 genome.wustl.edu 37 12 80722859 80722859 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 80722859 80722859 A G SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known silent c.4281 p.T1427 0.493 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,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 OTOGL HGNC ENSG00000165899 15 0 0 28 7 20 ACSS3 0 genome.wustl.edu 37 12 81532965 81532965 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 81532965 81532965 A G SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.701 p.Y234C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 55 0 0 118 8 6.34921 FAM86FP 0 genome.wustl.edu 37 12 8387020 8387020 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 8387020 8387020 G A SNP FAM86FP ENST00000427893 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors FAM86FP HGNC ENSG00000164845 64 0 0 53 15 22.0588 SLC6A15 0 genome.wustl.edu 37 12 85260861 85260861 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 85260861 85260861 A G SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1607 p.V536A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 41 0 0 91 11 10.7843 MGAT4C 0 genome.wustl.edu 37 12 86373639 86373639 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 86373639 86373639 A G SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known silent c.952 p.L318 0.698 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 62 0 0 121 54 30.8571 HAL 0 genome.wustl.edu 37 12 96371742 96371742 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 96371742 96371742 A G SNP HAL ENST00000261208 human ensembl 74_37 -1 known missense c.1634 p.V545A 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 88 0 0 83 21 20.1923 CD69 0 genome.wustl.edu 37 12 9907713 9907713 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 9907713 9907713 T C SNP CD69 ENST00000228434 human ensembl 74_37 -1 known missense c.332 p.N111S 0.000 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 101 0 0 138 24 14.8148 SLC10A2 0 genome.wustl.edu 37 13 103703715 103703715 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 103703715 103703715 C A SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known missense c.653 p.S218I 0.996 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 100 0 0 98 13 11.7117 ARGLU1 0 genome.wustl.edu 37 13 107220225 107220225 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 107220225 107220225 T C SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.43 p.T15A 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 54 0 0 62 16 20.5128 MYO16 0 genome.wustl.edu 37 13 109793685 109793685 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 109793685 109793685 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.5059 p.R1687W 0.788 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 23 0 0 15 5 25 COL4A1 0 genome.wustl.edu 37 13 110829295 110829295 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 110829295 110829295 C A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2806 p.G936C 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 116 0 0 114 24 17.3913 PROZ 0 genome.wustl.edu 37 13 113826335 113826335 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 113826335 113826335 G A SNP PROZ ENST00000375547 human ensembl 74_37 +1 known silent c.1119 p.S373 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 56 0 0 55 16 22.5352 LATS2 0 genome.wustl.edu 37 13 21562745 21562745 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 21562745 21562745 C T SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.1174 p.A392T 0.020 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 35 0 0 31 10 24.3902 C1QTNF9 0 genome.wustl.edu 37 13 24892987 24892987 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 24892987 24892987 G T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known missense c.198 p.K66N 0.996 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 192 0 0 281 21 6.95364 MTMR6 0 genome.wustl.edu 37 13 25848300 25848300 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 25848300 25848300 C T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.50 p.R17Q 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 51 0 0 67 10 12.987 POLR1D 0 genome.wustl.edu 37 13 28197194 28197194 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 28197194 28197194 A G SNP POLR1D ENST00000302979 human ensembl 74_37 +1 known missense c.209 p.Y70C 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer - no_errors POLR1D HGNC ENSG00000186184 112 0 0 152 27 15.0838 HSPH1 0 genome.wustl.edu 37 13 31711655 31711655 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 31711655 31711655 T C SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.2383 p.N795D 0.976 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 30 0 0 58 8 12.1212 FRY 0 genome.wustl.edu 37 13 32841309 32841309 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 32841309 32841309 T C SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.7949 p.F2650S 0.999 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 127 0 0 148 25 14.4509 STARD13 0 genome.wustl.edu 37 13 33686968 33686968 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 33686968 33686968 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.2382 p.N794 0.003 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 170 1 0.584795 162 26 13.8298 RFC3 0 genome.wustl.edu 37 13 34409330 34409330 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 34409330 34409330 T C SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known silent c.855 p.C285 1.000 superfamily_DNA_pol3_clamp-load_cplx_C pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 41 0 0 65 12 15.5844 FREM2 0 genome.wustl.edu 37 13 39448722 39448722 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 39448722 39448722 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.8280 p.P2760 0.001 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 75 0 0 98 8 7.54717 PROSER1 0 genome.wustl.edu 37 13 39586878 39586878 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 39586878 39586878 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.2511 p.F837 0.984 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 100 0 0 111 18 13.9535 GPALPP1 0 genome.wustl.edu 37 13 45602033 45602033 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 45602033 45602033 T C SNP GPALPP1 ENST00000361121 human ensembl 74_37 +1 known silent c.918 p.D306 1.000 pfam_DUF3752 pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 74 0 0 133 24 15.2866 RB1 0 genome.wustl.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 48955538 48955538 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 35 0 0 63 12 16 UTP14C 0 genome.wustl.edu 37 13 52604660 52604660 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 52604660 52604660 G A SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.1720 p.A574T 0.542 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 117 0 0 137 21 13.2911 THSD1 0 genome.wustl.edu 37 13 52952340 52952340 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 52952340 52952340 A T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1765 p.S589T 0.998 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 137 0 0 151 35 18.8172 PCDH17 0 genome.wustl.edu 37 13 58208417 58208417 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 58208417 58208417 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1737 p.N579 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 91 0 0 97 10 9.34579 PCDH17 0 genome.wustl.edu 37 13 58299089 58299089 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 58299089 58299089 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.3141 p.C1047 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 107 0 0 110 15 12 SLITRK1 0 genome.wustl.edu 37 13 84453562 84453562 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 84453562 84453562 A T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.2081 p.L694H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 42 0 0 49 16 24.6154 ADSSL1 0 genome.wustl.edu 37 14 105207519 105207519 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 105207519 105207519 C T SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known silent c.861 p.H287 0.456 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 82 0 0 49 12 19.6721 CEP170B 0 genome.wustl.edu 37 14 105344248 105344248 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 105344248 105344248 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.222 p.P74 0.942 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 22 0 0 21 3 12.5 PACS2 0 genome.wustl.edu 37 14 105834470 105834470 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 105834470 105834470 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.646 p.A216T 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 49 0 0 42 17 28.8136 TEP1 0 genome.wustl.edu 37 14 20846923 20846923 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 20846923 20846923 C A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5342 p.G1781V 0.201 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 130 1 0.763359 152 23 13.1429 RNASE10 0 genome.wustl.edu 37 14 20978775 20978775 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 20978775 20978775 T G SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known missense c.145 p.S49A 0.988 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 160 0 0 189 37 16.3717 CHD8 0 genome.wustl.edu 37 14 21861975 21861975 + Silent SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 21861975 21861975 A C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.5979 p.T1993 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 68 0 0 62 10 13.8889 RAB2B 0 genome.wustl.edu 37 14 21944703 21944703 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 21944703 21944703 G A SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known silent c.102 p.V34 0.343 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 100 0 0 122 20 14.0845 IL25 0 genome.wustl.edu 37 14 23845042 23845042 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 23845042 23845042 C T SNP IL25 ENST00000329715 human ensembl 74_37 +1 known missense c.487 p.R163C 0.969 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 179 0 0 149 19 11.3095 JPH4 0 genome.wustl.edu 37 14 24040430 24040430 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 24040430 24040430 C T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.1510 p.A504T 0.051 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 313 0 0 330 59 15.1671 EMC9 0 genome.wustl.edu 37 14 24610160 24610160 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 24610160 24610160 T G SNP EMC9 ENST00000216799 human ensembl 74_37 -1 known silent c.213 p.G71 0.518 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC ENSG00000100908 140 0 0 143 17 10.625 NFATC4 0 genome.wustl.edu 37 14 24839415 24839415 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 24839415 24839415 T C SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1000 p.Y334H 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 49 0 0 35 7 16.6667 SCFD1 0 genome.wustl.edu 37 14 31177207 31177207 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 31177207 31177207 G A SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known missense c.1565 p.R522Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 79 0 0 130 15 10.3448 INSM2 0 genome.wustl.edu 37 14 36003563 36003563 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 36003563 36003563 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.105 p.P35 0.893 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 67 0 0 66 9 12 PAX9 0 genome.wustl.edu 37 14 37135670 37135670 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 37135670 37135670 G A SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.635 p.S212N 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 29 0 0 23 4 14.8148 SSTR1 0 genome.wustl.edu 37 14 38679010 38679010 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 38679010 38679010 T G SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.416 p.V139G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 226 0 0 264 59 18.2663 KLHL28 0 genome.wustl.edu 37 14 45414260 45414260 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 45414260 45414260 T C SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.872 p.K291R 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 94 0 0 176 28 13.7255 DAAM1 0 genome.wustl.edu 37 14 59819321 59819321 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 59819321 59819321 G T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.2268 p.K756N 0.936 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 24 0 0 44 6 12 HSPA2 0 genome.wustl.edu 37 14 65009256 65009256 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 65009256 65009256 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1689 p.G563 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 178 0 0 160 34 17.5258 PPP1R36 0 genome.wustl.edu 37 14 65055877 65055877 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 65055877 65055877 A G SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known missense c.1090 p.I364V 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 55 0 0 66 6 8.33333 FNTB 0 genome.wustl.edu 37 14 65507524 65507524 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 65507524 65507524 G T SNP FNTB ENST00000447296 human ensembl 74_37 +1 known missense c.811 p.G271C 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 95 0 0 116 22 15.942 ZFP36L1 0 genome.wustl.edu 37 14 69262698 69262698 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 69262698 69262698 G A SNP ZFP36L1 ENST00000408913 human ensembl 74_37 -1 known missense c.314 p.A105V 0.000 NULL NULL - no_errors ZFP36L1 HGNC ENSG00000185650 35 0 0 20 3 13.0435 ALDH6A1 0 genome.wustl.edu 37 14 74551092 74551092 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 74551092 74551092 C T SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known silent c.6 p.A2 0.865 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 49 0 0 51 9 15 LTBP2 0 genome.wustl.edu 37 14 74968213 74968213 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 74968213 74968213 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.5251 p.V1751M 0.998 pfam_EG-like_dom,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,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 172 0 0 162 38 19 TTLL5 0 genome.wustl.edu 37 14 76156621 76156621 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 76156621 76156621 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.458 p.L153P 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 75 0 0 131 22 14.3791 VASH1 0 genome.wustl.edu 37 14 77239634 77239634 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 77239634 77239634 G T SNP VASH1 ENST00000554237 human ensembl 74_37 +1 known missense c.610 p.G204C 0.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 17 0 0 16 3 15.7895 DIO2 0 genome.wustl.edu 37 14 80669474 80669474 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 80669474 80669474 T G SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.380 p.N127T 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 38 0 0 37 4 9.7561 CEP128 0 genome.wustl.edu 37 14 80963868 80963868 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 80963868 80963868 A G SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.3239 p.M1080T 0.062 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 21 0 0 40 9 18.3673 SEL1L 0 genome.wustl.edu 37 14 81952771 81952771 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 81952771 81952771 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.1660 p.R554C 1.000 smart_Sel1-like pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 162 0 0 209 36 14.6939 DNM1P47 0 genome.wustl.edu 37 15 102304869 102304869 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 102304869 102304869 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DNM1P47 HGNC ENSG00000259660 25 0 0 25 5 16.6667 DNM1P47 0 genome.wustl.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 102304883 102304883 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 29 0 0 31 4 11.4286 ATP10A 0 genome.wustl.edu 37 15 25961952 25961952 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 25961952 25961952 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.1701 p.D567 0.010 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 161 0 0 191 26 11.9816 HERC2 0 genome.wustl.edu 37 15 28413654 28413654 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 28413654 28413654 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10312 p.D3438N 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 90 0 0 136 22 13.9241 LOC101929232 0 genome.wustl.edu 37 15 29083847 29083847 + RNA SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 29083847 29083847 A G SNP LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.993 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 40 0 0 62 9 12.6761 FAN1 0 genome.wustl.edu 37 15 31217442 31217442 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 31217442 31217442 T C SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.2285 p.F762S 0.001 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 67 0 0 92 17 15.5963 RYR3 0 genome.wustl.edu 37 15 34130198 34130198 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 34130198 34130198 C A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.12017 p.P4006Q 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 167 0 0 193 42 17.8723 RYR3 0 genome.wustl.edu 37 15 34150100 34150100 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 34150100 34150100 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.14127 p.C4709 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 47 0 0 67 9 11.8421 GJD2 0 genome.wustl.edu 37 15 35045251 35045251 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 35045251 35045251 C A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.394 p.G132C 1.000 prints_Connexin36 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 199 0 0 224 43 16.1049 FSIP1 0 genome.wustl.edu 37 15 39910003 39910003 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 39910003 39910003 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known silent c.1632 p.G544 0.014 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 52 0 0 92 12 11.5385 C15orf56 0 genome.wustl.edu 37 15 40544718 40544718 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 40544718 40544718 C A SNP C15orf56 ENST00000319503 human ensembl 74_37 -1 known missense c.254 p.R85L 0.000 NULL NULL - no_errors C15orf56 HGNC ENSG00000176753 54 0 0 45 8 15.0943 DISP2 0 genome.wustl.edu 37 15 40659529 40659529 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 40659529 40659529 A G SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1216 p.S406G 0.966 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 371 0 0 368 90 19.6507 BAHD1 0 genome.wustl.edu 37 15 40756744 40756744 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 40756744 40756744 G A SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.2050 p.E684K 0.975 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 20 0 0 17 5 22.7273 RPAP1 0 genome.wustl.edu 37 15 41812706 41812706 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 41812706 41812706 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.3678 p.H1226Q 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 66 0 0 42 7 14.2857 SPTBN5 0 genome.wustl.edu 37 15 42148637 42148637 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 42148637 42148637 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.8968 p.R2990W 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 17 0 0 21 3 12.5 PLA2G4F 0 genome.wustl.edu 37 15 42439390 42439390 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 42439390 42439390 G A SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.1357 p.R453C 0.080 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 73 0 0 76 15 16.4835 TGM7 0 genome.wustl.edu 37 15 43577065 43577065 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 43577065 43577065 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.951 p.T317 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 162 0 0 165 39 19.1176 DUOX2 0 genome.wustl.edu 37 15 45392018 45392018 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 45392018 45392018 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3257 p.T1086M 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 92 0 0 91 19 17.2727 FBN1 0 genome.wustl.edu 37 15 48812973 48812973 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 48812973 48812973 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1030 p.R344C 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 48 0 0 67 18 21.1765 DMXL2 0 genome.wustl.edu 37 15 51837811 51837811 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 51837811 51837811 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.899 p.R300K 0.968 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 139 0 0 186 44 19.1304 WDR72 0 genome.wustl.edu 37 15 54025236 54025236 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 54025236 54025236 T G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.111 p.Q37H 0.982 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 87 0 0 134 18 11.8421 UNC13C 0 genome.wustl.edu 37 15 54306737 54306737 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 54306737 54306737 T G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1637 p.L546R 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 55 0 0 63 10 13.6986 CLPX 0 genome.wustl.edu 37 15 65454965 65454965 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 65454965 65454965 C T SNP CLPX ENST00000300107 human ensembl 74_37 -1 known missense c.692 p.R231Q 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 16 0 0 15 3 16.6667 SH2D7 0 genome.wustl.edu 37 15 78390803 78390803 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 78390803 78390803 C A SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative silent c.102 p.A34 0.000 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 94 0 0 73 14 16.092 KIAA1024 0 genome.wustl.edu 37 15 79750312 79750312 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 79750312 79750312 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1823 p.R608Q 0.915 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 134 0 0 136 19 12.2581 IL16 0 genome.wustl.edu 37 15 81575034 81575034 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 81575034 81575034 T C SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.1136 p.I379T 0.984 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 267 0 0 298 61 16.9916 AGBL1 0 genome.wustl.edu 37 15 87531239 87531239 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 87531239 87531239 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.3105 p.L1035 0.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 176 0 0 239 39 14.0288 MRPS11 0 genome.wustl.edu 37 15 89020277 89020277 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 89020277 89020277 G T SNP MRPS11 ENST00000325844 human ensembl 74_37 +1 known nonsense c.469 p.G157* 1.000 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 32 0 0 23 3 11.5385 IGF1R 0 genome.wustl.edu 37 15 99434645 99434645 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 99434645 99434645 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.732 p.N244 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 34 0 0 30 6 16.6667 SYNM 0 genome.wustl.edu 37 15 99670901 99670901 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 99670901 99670901 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.2333 p.G778D 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 47 0 0 59 12 16.9014 CLEC16A 0 genome.wustl.edu 37 16 11272536 11272536 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 11272536 11272536 G A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.3151 p.A1051T 0.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 15 0 0 6 2 25 BAIAP3 0 genome.wustl.edu 37 16 1391358 1391358 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 1391358 1391358 G A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.704 p.R235H 0.048 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 104 0 0 99 16 13.913 KIAA0430 0 genome.wustl.edu 37 16 15711343 15711343 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 15711343 15711343 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.2770 p.V924I 0.887 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 54 0 0 86 22 20.3704 SMG1 0 genome.wustl.edu 37 16 18853743 18853743 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 18853743 18853743 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.6253 p.R2085C 1.000 superfamily_Kinase-like_dom,superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 30 0 0 52 12 18.75 SYT17 0 genome.wustl.edu 37 16 19195130 19195130 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 19195130 19195130 C T SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known silent c.612 p.R204 0.298 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 230 0 0 184 33 15.2074 LOC81691 0 genome.wustl.edu 37 16 20838394 20838394 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 20838394 20838394 C T SNP LOC81691 ENST00000261377 human ensembl 74_37 +1 known missense c.836 p.T279M 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 75 0 0 111 20 15.2672 DNAH3 0 genome.wustl.edu 37 16 20981161 20981161 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 20981161 20981161 A T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8411 p.I2804N 1.000 NULL 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 179 0 0 187 36 16.1435 DNAH3 0 genome.wustl.edu 37 16 21008636 21008636 + Silent SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 21008636 21008636 C G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.6570 p.G2190 0.181 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 91 0 0 105 17 13.9344 ZP2 0 genome.wustl.edu 37 16 21221008 21221008 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 21221008 21221008 G T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.274 p.L92M 0.026 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 81 0 0 92 16 14.8148 MLST8 0 genome.wustl.edu 37 16 2256519 2256519 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 2256519 2256519 A G SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known missense c.203 p.Y68C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 219 0 0 224 60 21.1268 ABCA3 0 genome.wustl.edu 37 16 2334407 2334407 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 2334407 2334407 C A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.3735 p.L1245 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 151 0 0 163 20 10.929 PRKCB 0 genome.wustl.edu 37 16 23847653 23847653 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 23847653 23847653 T G SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.157 p.C53G 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 174 0 0 198 29 12.7753 ZNF48 0 genome.wustl.edu 37 16 30410067 30410067 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 30410067 30410067 G A SNP ZNF48 ENST00000320159 human ensembl 74_37 +1 known missense c.1496 p.R499H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 203 0 0 201 36 15.1899 ZNF629 0 genome.wustl.edu 37 16 30795220 30795220 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 30795220 30795220 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.429 p.P143 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 34 0 0 32 8 20 ZNF646 0 genome.wustl.edu 37 16 31088406 31088406 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 31088406 31088406 T G SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.761 p.L254R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 91 0 0 82 15 15.4639 ITGAD 0 genome.wustl.edu 37 16 31427908 31427908 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 31427908 31427908 A G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2440 p.T814A 0.054 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 160 0 0 167 22 11.6402 ENSG00000214614 0 genome.wustl.edu 37 16 32896561 32896561 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 32896561 32896561 G A SNP ENSG00000214614 ENST00000566260 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors RP11-989E6.3 Clone_based_vega_gene ENSG00000214614 17 0 0 24 6 20 TRAP1 0 genome.wustl.edu 37 16 3724368 3724368 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 3724368 3724368 A T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1016 p.I339N 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 64 0 0 70 9 11.3924 CORO7-PAM16 0 genome.wustl.edu 37 16 4408008 4408008 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 4408008 4408008 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2554 p.P852S 1.000 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 83 0 0 80 13 13.9785 DECR2 0 genome.wustl.edu 37 16 461435 461435 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 461435 461435 G A SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known missense c.736 p.A246T 0.999 smart_PKS/FAS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 94 0 0 80 19 19.1919 PPL 0 genome.wustl.edu 37 16 4935287 4935287 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 4935287 4935287 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.3369 p.D1123 0.008 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 74 0 0 64 12 15.7895 IRX5 0 genome.wustl.edu 37 16 54966770 54966770 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 54966770 54966770 C T SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.610 p.P204S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 199 0 0 258 48 15.6863 GNAO1 0 genome.wustl.edu 37 16 56362621 56362621 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 56362621 56362621 A G SNP GNAO1 ENST00000262493 human ensembl 74_37 +1 known missense c.382 p.M128V 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 89 0 0 81 17 17.3469 GNAO1 0 genome.wustl.edu 37 16 56389030 56389030 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 56389030 56389030 G A SNP GNAO1 ENST00000568375 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors GNAO1 HGNC ENSG00000087258 32 0 0 50 12 19.3548 CNGB1 0 genome.wustl.edu 37 16 57953025 57953025 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 57953025 57953025 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known silent c.1935 p.P645 0.952 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 71 0 0 78 10 11.3636 MMP15 0 genome.wustl.edu 37 16 58071453 58071453 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 58071453 58071453 C A SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known silent c.240 p.A80 0.986 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 174 0 0 152 29 16.0221 CAPN15 0 genome.wustl.edu 37 16 597305 597305 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 597305 597305 A G SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.467 p.N156S 1.000 smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 10 0 0 10 2 16.6667 CMTM1 0 genome.wustl.edu 37 16 66612849 66612849 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 66612849 66612849 C T SNP CMTM1 ENST00000332695 human ensembl 74_37 +1 known missense c.314 p.P105L 0.000 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 125 0 0 181 24 11.7073 HSF4 0 genome.wustl.edu 37 16 67199724 67199724 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67199724 67199724 A G SNP HSF4 ENST00000264009 human ensembl 74_37 +1 known missense c.335 p.Q112R 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 47 0 0 60 10 14.2857 KIAA0895L 0 genome.wustl.edu 37 16 67210807 67210807 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67210807 67210807 C T SNP KIAA0895L ENST00000290881 human ensembl 74_37 -1 known missense c.1323 p.M441I 1.000 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 189 0 0 167 27 13.9175 LRRC36 0 genome.wustl.edu 37 16 67404993 67404993 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67404993 67404993 C T SNP LRRC36 ENST00000329956 human ensembl 74_37 +1 known missense c.1342 p.R448W 0.251 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 131 0 0 119 30 20.1342 TSNAXIP1 0 genome.wustl.edu 37 16 67861894 67861894 + Nonstop_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67861894 67861894 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known nonstop c.1975 p.*659Q 0.845 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 162 0 0 204 38 15.7025 NFATC3 0 genome.wustl.edu 37 16 68248233 68248233 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 68248233 68248233 C G SNP NFATC3 ENST00000329524 human ensembl 74_37 +1 known missense c.3108 p.D1036E 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 40 0 0 50 7 12.2807 NFATC3 0 genome.wustl.edu 37 16 68248270 68248270 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 68248270 68248270 T A SNP NFATC3 ENST00000329524 human ensembl 74_37 +1 known missense c.3145 p.S1049T 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 49 0 0 73 19 20.6522 SLC7A6OS 0 genome.wustl.edu 37 16 68335178 68335178 + Nonstop_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 68335178 68335178 T C SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known nonstop c.930 p.*310W 0.993 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 140 0 0 160 13 7.51445 TANGO6 0 genome.wustl.edu 37 16 68893886 68893886 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 68893886 68893886 C A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.194 p.P65H 0.991 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 43 0 0 50 7 12.2807 HAS3 0 genome.wustl.edu 37 16 69148719 69148719 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 69148719 69148719 C T SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known silent c.1212 p.G404 0.760 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 165 0 0 167 41 19.7115 ADAMTS18 0 genome.wustl.edu 37 16 77323191 77323191 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 77323191 77323191 T C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3520 p.T1174A 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 214 0 0 316 42 11.7318 ADAMTS18 0 genome.wustl.edu 37 16 77353803 77353803 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 77353803 77353803 G T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2475 p.F825L 0.972 pfam_ADAM_spacer1 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 110 0 0 95 22 18.8034 DYNLRB2 0 genome.wustl.edu 37 16 80577247 80577247 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 80577247 80577247 A C SNP DYNLRB2 ENST00000305904 human ensembl 74_37 +1 known missense c.78 p.E26D 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type - no_errors DYNLRB2 HGNC ENSG00000168589 78 0 0 99 25 20.1613 CHTF18 0 genome.wustl.edu 37 16 839642 839642 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 839642 839642 T C SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.1124 p.V375A 0.965 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 65 0 0 80 15 15.7895 KLHL36 0 genome.wustl.edu 37 16 84690644 84690644 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 84690644 84690644 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known silent c.231 p.I77 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like 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 KLHL36 HGNC ENSG00000135686 91 0 0 82 17 17.1717 FOXC2 0 genome.wustl.edu 37 16 86601350 86601350 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 86601350 86601350 G A SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known missense c.409 p.D137N 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 226 0 0 188 39 17.1806 FBXO31 0 genome.wustl.edu 37 16 87369022 87369022 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 87369022 87369022 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known missense c.884 p.R295H 0.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 49 0 0 39 10 20.4082 ZC3H18 0 genome.wustl.edu 37 16 88695188 88695188 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 88695188 88695188 A G SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2492 p.K831R 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 191 0 0 211 27 11.3445 CBFA2T3 0 genome.wustl.edu 37 16 88958316 88958316 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 88958316 88958316 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.685 p.R229W 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 38 0 0 53 4 7.01754 CDH15 0 genome.wustl.edu 37 16 89245905 89245905 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 89245905 89245905 C T SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.124 p.R42C 0.947 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 139 0 0 144 22 13.253 ZNF778 0 genome.wustl.edu 37 16 89293428 89293428 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 89293428 89293428 G T SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.648 p.A216 0.174 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 247 0 0 249 43 14.726 PRDM7 0 genome.wustl.edu 37 16 90124855 90124855 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 90124855 90124855 T C SNP PRDM7 ENST00000449207 human ensembl 74_37 -1 known missense c.1321 p.T441A 0.037 NULL pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 143 0 0 184 34 15.5963 MYH2 0 genome.wustl.edu 37 17 10428240 10428240 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 10428240 10428240 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4805 p.S1602F 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 161 0 0 198 48 19.5122 DNAH9 0 genome.wustl.edu 37 17 11648217 11648217 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 11648217 11648217 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6215 p.R2072H 1.000 superfamily_P-loop_NTPase 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 55 0 0 46 9 16.3636 DNAH9 0 genome.wustl.edu 37 17 11833202 11833202 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 11833202 11833202 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11897 p.K3966T 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 DNAH9 HGNC ENSG00000007174 31 0 0 30 4 11.7647 ARHGAP44 0 genome.wustl.edu 37 17 12887995 12887995 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 12887995 12887995 A G SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known missense c.2087 p.Q696R 0.071 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 ARHGAP44 HGNC ENSG00000006740 36 0 0 41 4 8.88889 CCDC144A 0 genome.wustl.edu 37 17 16612530 16612530 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 16612530 16612530 G C SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.1159 p.V387L 0.010 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 103 0 0 137 27 16.4634 SREBF1 0 genome.wustl.edu 37 17 17722984 17722984 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 17722984 17722984 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known silent c.669 p.P223 0.909 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 49 0 0 36 10 21.7391 GID4 0 genome.wustl.edu 37 17 17957481 17957481 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 17957481 17957481 T A SNP GID4 ENST00000268719 human ensembl 74_37 +1 known missense c.539 p.I180N 1.000 pfam_Vacuolar_import/degrad_Vid24 pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC ENSG00000141034 79 0 0 123 17 12.1429 MYO15A 0 genome.wustl.edu 37 17 18023041 18023041 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 18023041 18023041 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.927 p.Y309 0.089 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 152 0 0 154 25 13.9665 ALKBH5 0 genome.wustl.edu 37 17 18088243 18088243 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 18088243 18088243 G A SNP ALKBH5 ENST00000399138 human ensembl 74_37 +1 known missense c.686 p.G229D 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 104 0 0 107 39 26.7123 TSR1 0 genome.wustl.edu 37 17 2228714 2228714 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 2228714 2228714 G A SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.1904 p.A635V 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 67 0 0 76 15 16.4835 CLUH 0 genome.wustl.edu 37 17 2601706 2601706 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 2601706 2601706 G A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.1331 p.A444V 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 62 0 0 52 5 8.77193 PYY2 0 genome.wustl.edu 37 17 26554430 26554430 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 26554430 26554430 C T SNP PYY2 ENST00000441253 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PYY2 HGNC ENSG00000237575 8 0 0 6 3 33.3333 VTN 0 genome.wustl.edu 37 17 26691899 26691899 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 26691899 26691899 G T SNP VTN ENST00000431468 human ensembl 74_37 -1 known missense c.188 p.A63E 0.997 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VTN HGNC ENSG00000109072 53 0 0 43 12 21.8182 ALDOC 0 genome.wustl.edu 37 17 26901545 26901545 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 26901545 26901545 G A SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known silent c.591 p.H197 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 210 1 0.473934 256 47 15.5116 ALDOC 0 genome.wustl.edu 37 17 26901984 26901984 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 26901984 26901984 T C SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.365 p.E122G 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 94 0 0 99 19 16.1017 PROCA1 0 genome.wustl.edu 37 17 27031862 27031862 + Splice_Site SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 27031862 27031862 C A SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known splice_site c.98-1 e3-1 1.000 - - - no_errors PROCA1 HGNC ENSG00000167525 65 0 0 82 14 14.5833 NF1 0 genome.wustl.edu 37 17 29556373 29556373 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 29556373 29556373 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.2740 p.R914W 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 139 0 0 197 40 16.8776 CDK5R1 0 genome.wustl.edu 37 17 30814868 30814868 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 30814868 30814868 A G SNP CDK5R1 ENST00000313401 human ensembl 74_37 +1 known missense c.230 p.N77S 1.000 pfam_CDK5_activator,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 284 0 0 284 43 13.1498 SPACA3 0 genome.wustl.edu 37 17 31322545 31322545 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 31322545 31322545 C T SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known silent c.153 p.A51 0.000 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 114 0 0 98 25 20.3252 UNC45B 0 genome.wustl.edu 37 17 33504125 33504125 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 33504125 33504125 G A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known silent c.2121 p.P707 0.991 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 94 0 0 89 17 16.0377 SYNRG 0 genome.wustl.edu 37 17 35900495 35900495 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 35900495 35900495 G A SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3353 p.T1118M 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 119 0 0 160 40 20 GPR179 0 genome.wustl.edu 37 17 36493548 36493548 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 36493548 36493548 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.959 p.R320Q 0.992 superfamily_Growth_fac_rcpt_N_dom pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 86 0 0 124 18 12.6761 MED1 0 genome.wustl.edu 37 17 37564730 37564730 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 37564730 37564730 C T SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.3744 p.G1248 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 106 0 0 121 22 15.3846 PSMD3 0 genome.wustl.edu 37 17 38153770 38153770 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 38153770 38153770 G A SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known missense c.1541 p.R514Q 1.000 pfam_26S_Psome_reg_C pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 100 0 0 126 30 19.2308 TNS4 0 genome.wustl.edu 37 17 38643661 38643661 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 38643661 38643661 T G SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.915 p.R305S 0.026 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 69 0 0 93 14 13.0841 ZZEF1 0 genome.wustl.edu 37 17 3919631 3919631 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 3919631 3919631 T G SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.8131 p.N2711H 1.000 superfamily_CUB_dom pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 141 0 0 145 17 10.4938 CNP 0 genome.wustl.edu 37 17 40120342 40120342 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 40120342 40120342 A G SNP CNP ENST00000393892 human ensembl 74_37 +1 known missense c.260 p.K87R 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 54 0 0 33 8 19.5122 PTRF 0 genome.wustl.edu 37 17 40575027 40575027 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 40575027 40575027 T C SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.89 p.Q30R 0.069 NULL NULL - no_errors PTRF HGNC ENSG00000177469 41 0 0 40 9 18.3673 COASY 0 genome.wustl.edu 37 17 40715058 40715058 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 40715058 40715058 T G SNP COASY ENST00000590958 human ensembl 74_37 +1 known missense c.505 p.C169G 1.000 NULL pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 308 0 0 273 48 14.9533 CNTNAP1 0 genome.wustl.edu 37 17 40835908 40835908 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 40835908 40835908 T G SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.137 p.L46R 1.000 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_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 50 0 0 47 9 16.0714 RPL27 0 genome.wustl.edu 37 17 41151963 41151963 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 41151963 41151963 G A SNP RPL27 ENST00000253788 human ensembl 74_37 +1 known missense c.95 p.G32D 1.000 pfam_KOW pfam_Ribosomal_L27e,pfam_KOW,smart_KOW - no_errors RPL27 HGNC ENSG00000131469 102 0 0 117 21 15.2174 NBR1 0 genome.wustl.edu 37 17 41343441 41343441 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 41343441 41343441 C T SNP NBR1 ENST00000341165 human ensembl 74_37 +1 known nonsense c.916 p.R306* 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 33 0 0 41 7 14.5833 ITGA2B 0 genome.wustl.edu 37 17 42457460 42457460 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 42457460 42457460 C T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known silent c.1662 p.L554 0.866 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 52 0 0 42 10 19.2308 GPATCH8 0 genome.wustl.edu 37 17 42476786 42476786 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 42476786 42476786 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2659 p.R887C 0.995 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 94 0 0 104 19 15.4472 LRRC37A4P 0 genome.wustl.edu 37 17 43592315 43592315 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 43592315 43592315 C T SNP LRRC37A4P ENST00000579913 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A4P HGNC ENSG00000214425 30 0 0 27 5 15.625 CDC27 0 genome.wustl.edu 37 17 45235659 45235659 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 45235659 45235659 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.388 p.R130W 1.000 smart_TPR_repeat pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 34 0 0 50 12 19.3548 ITGA3 0 genome.wustl.edu 37 17 48157693 48157693 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 48157693 48157693 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.2774 p.T925I 0.793 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 50 0 0 39 11 22 ZNF594 0 genome.wustl.edu 37 17 5086549 5086549 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 5086549 5086549 G A SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.1003 p.R335C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 173 0 0 249 55 18.0921 BZRAP1 0 genome.wustl.edu 37 17 56389047 56389047 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 56389047 56389047 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2966 p.P989L 0.230 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 48 0 0 42 6 12.5 C17orf47 0 genome.wustl.edu 37 17 56620397 56620397 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 56620397 56620397 T C SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.1151 p.Y384C 0.000 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 69 0 0 82 12 12.766 PPM1E 0 genome.wustl.edu 37 17 56833469 56833469 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 56833469 56833469 C T SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known silent c.111 p.P37 0.987 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 40 0 0 37 5 11.9048 TRIM37 0 genome.wustl.edu 37 17 57126658 57126658 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 57126658 57126658 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known nonsense c.1411 p.R471* 0.554 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 61 0 0 86 15 14.8515 APPBP2 0 genome.wustl.edu 37 17 58525054 58525054 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 58525054 58525054 C T SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known missense c.1646 p.R549Q 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 212 0 0 272 60 18.0723 MED13 0 genome.wustl.edu 37 17 60042538 60042538 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 60042538 60042538 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.4673 p.F1558S 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 130 0 0 181 33 15.4206 MRC2 0 genome.wustl.edu 37 17 60766976 60766976 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 60766976 60766976 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.3428 p.P1143L 0.995 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 19 0 0 12 3 20 SMURF2 0 genome.wustl.edu 37 17 62582238 62582238 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 62582238 62582238 A G SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.451 p.C151R 1.000 superfamily_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 117 0 0 188 38 16.8142 CACNG5 0 genome.wustl.edu 37 17 64873455 64873455 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 64873455 64873455 G A SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.5 p.S2N 1.000 prints_VDCC_g5su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 86 0 0 84 18 17.6471 BPTF 0 genome.wustl.edu 37 17 65909216 65909216 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 65909216 65909216 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.5594 p.E1865G 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 118 0 0 245 18 6.84411 SLC16A13 0 genome.wustl.edu 37 17 6943212 6943212 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 6943212 6943212 C A SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known silent c.1212 p.P404 0.893 NULL pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 280 0 0 290 57 16.4265 SOX9 0 genome.wustl.edu 37 17 70120419 70120419 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 70120419 70120419 G A SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known missense c.1421 p.R474H 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 194 0 0 155 22 12.4294 HID1 0 genome.wustl.edu 37 17 72947725 72947725 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 72947725 72947725 A G SNP HID1 ENST00000425042 human ensembl 74_37 -1 known silent c.2307 p.N769 0.984 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 23 0 0 15 4 21.0526 HID1 0 genome.wustl.edu 37 17 72950284 72950284 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 72950284 72950284 C T SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.1813 p.A605T 0.990 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 19 0 0 26 3 10.3448 LLGL2 0 genome.wustl.edu 37 17 73566223 73566223 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 73566223 73566223 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known silent c.1761 p.P587 0.944 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 21 0 0 8 3 27.2727 EVPL 0 genome.wustl.edu 37 17 74017836 74017836 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 74017836 74017836 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.834 p.S278 0.978 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 27 0 0 30 13 30.2326 SRP68 0 genome.wustl.edu 37 17 74042211 74042211 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 74042211 74042211 G A SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known nonsense c.1207 p.Q403* 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 268 0 0 318 63 16.5354 ZACN 0 genome.wustl.edu 37 17 74078041 74078041 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 74078041 74078041 G A SNP ZACN ENST00000334586 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.001 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 85 0 0 61 9 12.8571 DNAH17 0 genome.wustl.edu 37 17 76471937 76471937 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 76471937 76471937 C T SNP DNAH17 ENST00000586052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 35 0 0 50 6 10.7143 DNAH17 0 genome.wustl.edu 37 17 76486923 76486923 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 76486923 76486923 T C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.6634 p.T2212A 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 16 0 0 14 5 26.3158 DNAH2 0 genome.wustl.edu 37 17 7684072 7684072 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 7684072 7684072 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.5975 p.R1992H 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 136 1 0.729927 112 20 15.1515 CARD14 0 genome.wustl.edu 37 17 78180824 78180824 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 78180824 78180824 T C SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.2747 p.M916T 0.007 superfamily_P-loop_NTPase,pfscan_Guanylate_kin-like pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 79 0 0 93 17 15.4545 RNF213 0 genome.wustl.edu 37 17 78286811 78286811 + Splice_Site SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 78286811 78286811 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known splice_site c.2656-1 e14-1 0.039 - - - no_errors RNF213 HGNC ENSG00000173821 66 0 0 74 12 13.9535 RNF213 0 genome.wustl.edu 37 17 78343450 78343450 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 78343450 78343450 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12304 p.R4102C 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 87 0 0 84 19 18.4466 RNF213 0 genome.wustl.edu 37 17 78367414 78367414 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 78367414 78367414 C T SNP RNF213 ENST00000427003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF213 HGNC ENSG00000173821 14 0 0 12 4 25 C17orf70 0 genome.wustl.edu 37 17 79511073 79511073 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 79511073 79511073 G A SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.2384 p.A795V 0.994 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 62 0 0 58 19 24.6753 C17orf70 0 genome.wustl.edu 37 17 79517723 79517723 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 79517723 79517723 C T SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.797 p.G266D 0.022 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 96 0 0 86 13 13.1313 ARHGDIA 0 genome.wustl.edu 37 17 79827069 79827069 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 79827069 79827069 G A SNP ARHGDIA ENST00000269321 human ensembl 74_37 -1 known missense c.395 p.T132M 1.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 88 0 0 82 16 16.3265 LRRC45 0 genome.wustl.edu 37 17 79982976 79982976 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 79982976 79982976 C T SNP LRRC45 ENST00000306688 human ensembl 74_37 +1 known missense c.454 p.R152C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 19 0 0 22 11 33.3333 FASN 0 genome.wustl.edu 37 17 80048926 80048926 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 80048926 80048926 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.1512 p.R504 0.237 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase 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 89 0 0 71 25 26.0417 TBCD 0 genome.wustl.edu 37 17 80858557 80858557 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 80858557 80858557 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.1680 p.T560 0.032 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 68 0 0 103 16 13.4454 ARHGEF15 0 genome.wustl.edu 37 17 8219405 8219405 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 8219405 8219405 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1643 p.P548L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 38 0 0 27 5 15.625 APCDD1 0 genome.wustl.edu 37 18 10487675 10487675 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 10487675 10487675 C A SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known silent c.1185 p.S395 1.000 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 122 0 0 118 28 19.1781 IMPA2 0 genome.wustl.edu 37 18 12028895 12028895 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 12028895 12028895 C T SNP IMPA2 ENST00000269159 human ensembl 74_37 +1 known silent c.654 p.A218 0.011 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 205 0 0 192 32 14.2857 CIDEA 0 genome.wustl.edu 37 18 12264361 12264361 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 12264361 12264361 A G SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known missense c.239 p.D80G 1.000 pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 86 0 0 105 17 13.9344 C18orf8 0 genome.wustl.edu 37 18 21110257 21110257 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 21110257 21110257 T C SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.1664 p.L555P 1.000 pfam_Mic1 pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 102 0 0 156 34 17.8947 CABYR 0 genome.wustl.edu 37 18 21736075 21736075 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 21736075 21736075 G A SNP CABYR ENST00000463087 human ensembl 74_37 +1 known missense c.610 p.V204I 0.019 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 113 0 0 134 25 15.7233 METTL4 0 genome.wustl.edu 37 18 2567059 2567059 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 2567059 2567059 C T SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.157 p.V53M 0.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 57 0 0 75 8 9.63855 ZNF396 0 genome.wustl.edu 37 18 32953924 32953924 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 32953924 32953924 C A SNP ZNF396 ENST00000589332 human ensembl 74_37 -1 known missense c.333 p.W111C 0.879 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZNF396 HGNC ENSG00000186496 131 0 0 175 42 19.3548 FHOD3 0 genome.wustl.edu 37 18 34297930 34297930 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 34297930 34297930 G T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.2144 p.G715V 0.001 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 117 1 0.847458 74 21 22.1053 SETBP1 0 genome.wustl.edu 37 18 42531797 42531797 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 42531797 42531797 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2492 p.P831Q 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 95 0 0 94 8 7.84314 SLC14A2 0 genome.wustl.edu 37 18 43217142 43217142 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 43217142 43217142 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.838 p.P280S 0.998 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 91 0 0 82 15 15.4639 LIPG 0 genome.wustl.edu 37 18 47101749 47101749 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 47101749 47101749 T G SNP LIPG ENST00000261292 human ensembl 74_37 +1 known silent c.582 p.P194 0.982 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 50 0 0 37 18 32.7273 ENSG00000173213 0 genome.wustl.edu 37 18 49008 49008 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 49008 49008 G T SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.209 p.P70Q 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 139 0 0 152 25 14.1243 DCC 0 genome.wustl.edu 37 18 51013277 51013277 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 51013277 51013277 C A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3847 p.P1283T 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 146 0 0 156 23 12.8492 EPB41L3 0 genome.wustl.edu 37 18 5394733 5394733 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 5394733 5394733 T A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3213 p.K1071N 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C 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 79 0 0 125 22 14.966 ZNF532 0 genome.wustl.edu 37 18 56587380 56587380 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 56587380 56587380 T C SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.1861 p.C621R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 70 0 0 61 20 24.6914 CDH20 0 genome.wustl.edu 37 18 59166590 59166590 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 59166590 59166590 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.418 p.R140W 0.998 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 CDH20 HGNC ENSG00000101542 46 0 0 45 6 11.7647 L3MBTL4 0 genome.wustl.edu 37 18 6215765 6215765 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 6215765 6215765 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.854 p.A285V 0.997 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 15 0 0 33 3 8.33333 LAMA1 0 genome.wustl.edu 37 18 7013871 7013871 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 7013871 7013871 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3306 p.C1102 0.888 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 27 0 0 23 3 11.5385 FBXO15 0 genome.wustl.edu 37 18 71796797 71796797 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 71796797 71796797 A G SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.628 p.Y210H 0.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 36 0 0 46 8 14.8148 ZNF407 0 genome.wustl.edu 37 18 72775630 72775630 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 72775630 72775630 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5953 p.A1985T 0.103 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 30 0 0 26 7 21.2121 MBP 0 genome.wustl.edu 37 18 74729102 74729102 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 74729102 74729102 G T SNP MBP ENST00000355994 human ensembl 74_37 -1 known missense c.262 p.R88S 0.905 NULL pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 92 0 0 100 24 19.3548 GALR1 0 genome.wustl.edu 37 18 74963088 74963088 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 74963088 74963088 G A SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.584 p.R195H 0.311 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 165 1 0.60241 175 32 15.4589 PARD6G 0 genome.wustl.edu 37 18 77918110 77918110 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 77918110 77918110 G A SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known silent c.675 p.A225 0.001 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 66 0 0 80 14 14.8936 RAB12 0 genome.wustl.edu 37 18 8635547 8635547 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 8635547 8635547 C T SNP RAB12 ENST00000329286 human ensembl 74_37 +1 known missense c.443 p.A148V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC ENSG00000206418 42 0 0 44 5 10.2041 SOGA2 0 genome.wustl.edu 37 18 8784549 8784549 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 8784549 8784549 A G SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1439 p.H480R 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 196 0 0 226 42 15.6716 GRIN3B 0 genome.wustl.edu 37 19 1004918 1004918 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 1004918 1004918 G A SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1418 p.R473H 0.000 pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 174 0 0 140 31 18.1287 KRI1 0 genome.wustl.edu 37 19 10664802 10664802 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 10664802 10664802 G T SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.1955 p.P652H 0.127 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 194 0 0 218 38 14.8438 SMARCA4 0 genome.wustl.edu 37 19 11121099 11121099 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 11121099 11121099 G T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2166 p.Q722H 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 189 0 0 174 37 17.5355 SMARCA4 0 genome.wustl.edu 37 19 11123693 11123693 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 11123693 11123693 G T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2343 p.M781I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 74 0 0 95 13 12.037 ZNF653 0 genome.wustl.edu 37 19 11606948 11606948 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 11606948 11606948 C T SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.376 p.V126M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 50 0 0 48 4 7.69231 CIRBP-AS1 0 genome.wustl.edu 37 19 1269881 1269881 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 1269881 1269881 T C SNP CIRBP-AS1 ENST00000585832 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 46 0 0 39 8 17.0213 CACNA1A 0 genome.wustl.edu 37 19 13419248 13419248 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 13419248 13419248 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1763 p.R588H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 21 0 0 45 8 15.0943 CC2D1A 0 genome.wustl.edu 37 19 14034594 14034594 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 14034594 14034594 G A SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1910 p.R637H 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 157 0 0 131 17 11.4865 PODNL1 0 genome.wustl.edu 37 19 14046600 14046600 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 14046600 14046600 G A SNP PODNL1 ENST00000339560 human ensembl 74_37 -1 known missense c.449 p.A150V 0.014 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 32 0 0 33 6 15.3846 CYP4F3 0 genome.wustl.edu 37 19 15760019 15760019 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 15760019 15760019 T C SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.575 p.F192S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 137 0 0 194 14 6.73077 CYP4F11 0 genome.wustl.edu 37 19 16040318 16040318 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 16040318 16040318 G T SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.292 p.L98I 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 309 0 0 325 47 12.6344 SIN3B 0 genome.wustl.edu 37 19 16986971 16986971 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 16986971 16986971 C T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.2794 p.R932C 0.976 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 41 0 0 47 6 11.3208 ANKLE1 0 genome.wustl.edu 37 19 17394149 17394149 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 17394149 17394149 C A SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.576 p.S192R 0.014 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 198 0 0 164 38 18.8119 MAP1S 0 genome.wustl.edu 37 19 17838610 17838610 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 17838610 17838610 C T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2417 p.A806V 0.009 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 39 0 0 28 7 20 ATP8B3 0 genome.wustl.edu 37 19 1802642 1802642 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 1802642 1802642 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.907 p.T303A 0.025 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 38 0 0 29 6 17.1429 GDF15 0 genome.wustl.edu 37 19 18499232 18499232 + Silent SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 18499232 18499232 A C SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known silent c.414 p.T138 0.838 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 37 0 0 35 3 7.89474 COMP 0 genome.wustl.edu 37 19 18900795 18900795 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 18900795 18900795 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.346 p.A116T 0.007 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 30 0 0 27 4 12.9032 NDUFA13 0 genome.wustl.edu 37 19 19638863 19638863 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 19638863 19638863 C T SNP NDUFA13 ENST00000252576 human ensembl 74_37 +1 known silent c.612 p.I204 0.001 pfam_GRIM-19 pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 37 0 0 36 8 18.1818 CSNK1G2 0 genome.wustl.edu 37 19 1978697 1978697 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 1978697 1978697 T G SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.395 p.L132R 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_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 19 0 0 30 5 14.2857 BTBD2 0 genome.wustl.edu 37 19 1990129 1990129 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 1990129 1990129 G A SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known missense c.862 p.R288C 0.996 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 24 0 0 37 10 21.2766 ZNF93 0 genome.wustl.edu 37 19 20045515 20045515 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 20045515 20045515 A C SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.1751 p.K584T 0.998 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 ZNF93 HGNC ENSG00000184635 46 0 0 70 18 20.4545 ZNF430 0 genome.wustl.edu 37 19 21216290 21216290 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 21216290 21216290 T A SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.125 p.I42K 0.145 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 ZNF430 HGNC ENSG00000118620 128 0 0 217 34 13.5458 DOT1L 0 genome.wustl.edu 37 19 2191077 2191077 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 2191077 2191077 C A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.331 p.L111M 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 47 0 0 36 4 10 ZNF676 0 genome.wustl.edu 37 19 22362819 22362819 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 22362819 22362819 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1700 p.G567D 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 63 0 0 109 19 14.8438 LMNB2 0 genome.wustl.edu 37 19 2433843 2433843 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 2433843 2433843 A G SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.1463 p.L488P 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 122 0 0 129 31 19.375 THOP1 0 genome.wustl.edu 37 19 2807510 2807510 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 2807510 2807510 G A SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known silent c.957 p.A319 0.882 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 39 0 0 35 12 25.5319 CEP89 0 genome.wustl.edu 37 19 33370222 33370222 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 33370222 33370222 C T SNP CEP89 ENST00000305768 human ensembl 74_37 -1 known missense c.2198 p.R733Q 0.000 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 224 0 0 253 47 15.6667 KCTD15 0 genome.wustl.edu 37 19 34302406 34302406 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 34302406 34302406 G A SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known silent c.642 p.T214 0.996 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 66 0 0 57 8 12.3077 MAG 0 genome.wustl.edu 37 19 35791193 35791193 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 35791193 35791193 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.856 p.E286K 0.479 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 33 0 0 23 10 30.303 ETV2 0 genome.wustl.edu 37 19 36134636 36134636 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 36134636 36134636 C T SNP ETV2 ENST00000402764 human ensembl 74_37 +1 known silent c.696 p.C232 0.941 NULL pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV2 HGNC ENSG00000105672 96 0 0 131 16 10.8844 ZNF585A 0 genome.wustl.edu 37 19 37644345 37644345 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 37644345 37644345 A G SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known silent c.456 p.L152 0.968 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 ZNF585A HGNC ENSG00000196967 104 0 0 181 31 14.6226 NFKBIB 0 genome.wustl.edu 37 19 39398282 39398282 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 39398282 39398282 G A SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.952 p.D318N 0.984 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 NFKBIB HGNC ENSG00000104825 21 0 0 18 4 18.1818 EEF2 0 genome.wustl.edu 37 19 3977228 3977228 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 3977228 3977228 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2368 p.V790I 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 34 0 0 39 8 17.0213 EEF2 0 genome.wustl.edu 37 19 3978014 3978014 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 3978014 3978014 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1870 p.A624T 0.383 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 45 0 0 27 8 22.8571 SAMD4B 0 genome.wustl.edu 37 19 39860427 39860427 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 39860427 39860427 C T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.329 p.A110V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 77 0 0 82 22 21.1538 SUPT5H 0 genome.wustl.edu 37 19 39961097 39961097 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 39961097 39961097 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.1611 p.G537 0.816 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 235 0 0 241 42 14.841 FCGBP 0 genome.wustl.edu 37 19 40363285 40363285 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 40363285 40363285 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.14785 p.V4929M 0.984 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 30 0 0 25 3 10.7143 SERTAD1 0 genome.wustl.edu 37 19 40929414 40929414 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 40929414 40929414 C T SNP SERTAD1 ENST00000357949 human ensembl 74_37 -1 known missense c.40 p.E14K 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 103 0 0 117 7 5.64516 CYP2A6 0 genome.wustl.edu 37 19 41349733 41349733 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 41349733 41349733 G A SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known nonsense c.1453 p.R485* 0.068 pfam_Cyt_P450,superfamily_Cyt_P450 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 CYP2A6 HGNC ENSG00000255974 181 0 0 221 15 6.35593 CYP2A7 0 genome.wustl.edu 37 19 41381630 41381630 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 41381630 41381630 G A SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known nonsense c.1453 p.R485* 0.473 pfam_Cyt_P450,superfamily_Cyt_P450 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,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 60 0 0 51 4 7.27273 CEACAM3 0 genome.wustl.edu 37 19 42301697 42301697 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 42301697 42301697 G T SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known nonsense c.241 p.G81* 0.000 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 246 0 0 288 59 17.0029 LIPE 0 genome.wustl.edu 37 19 42911534 42911534 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 42911534 42911534 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known silent c.1929 p.S643 0.001 pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 39 0 0 45 5 10 PLAUR 0 genome.wustl.edu 37 19 44174241 44174241 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 44174241 44174241 A G SNP PLAUR ENST00000340093 human ensembl 74_37 -1 known missense c.32 p.L11P 0.130 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 170 0 0 148 34 18.6813 ZNF235 0 genome.wustl.edu 37 19 44791754 44791754 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 44791754 44791754 A G SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1834 p.S612P 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF235 HGNC ENSG00000159917 192 0 0 258 47 15.4098 MARK4 0 genome.wustl.edu 37 19 45805809 45805809 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 45805809 45805809 C T SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known silent c.2100 p.H700 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK4 HGNC ENSG00000007047 65 0 0 42 7 14.2857 HIF3A 0 genome.wustl.edu 37 19 46832597 46832597 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 46832597 46832597 G A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.1574 p.R525Q 0.932 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 61 0 0 74 18 19.5652 CCDC8 0 genome.wustl.edu 37 19 46915732 46915732 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 46915732 46915732 G T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known silent c.336 p.T112 0.003 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 156 0 0 173 28 13.9303 CARD8 0 genome.wustl.edu 37 19 48733886 48733886 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 48733886 48733886 C G SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.844 p.A282P 0.055 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 259 0 0 215 56 20.6642 GRIN2D 0 genome.wustl.edu 37 19 48908191 48908191 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 48908191 48908191 G A SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.666 p.T222 0.938 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 134 1 0.740741 163 35 17.6768 LMTK3 0 genome.wustl.edu 37 19 49004776 49004776 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49004776 49004776 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known missense c.925 p.V309M 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 LMTK3 HGNC ENSG00000142235 25 0 0 23 2 8 RASIP1 0 genome.wustl.edu 37 19 49238628 49238628 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49238628 49238628 C T SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.1004 p.R335Q 0.978 NULL pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 37 0 0 32 8 20 SLC6A16 0 genome.wustl.edu 37 19 49793594 49793594 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49793594 49793594 A G SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.1997 p.L666P 0.005 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 104 0 0 91 25 21.5517 IRF3 0 genome.wustl.edu 37 19 50166672 50166672 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50166672 50166672 C T SNP IRF3 ENST00000309877 human ensembl 74_37 -1 known missense c.265 p.G89R 0.019 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 71 0 0 79 16 16.8421 CPT1C 0 genome.wustl.edu 37 19 50195521 50195521 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50195521 50195521 G A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known silent c.12 p.A4 0.967 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 65 0 0 93 18 16.2162 MYH14 0 genome.wustl.edu 37 19 50752310 50752310 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50752310 50752310 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1396 p.R466C 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,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 26 0 0 32 7 17.9487 NR1H2 0 genome.wustl.edu 37 19 50882014 50882014 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50882014 50882014 G A SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known silent c.708 p.Q236 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 119 0 0 111 18 13.9535 FAM71E1 0 genome.wustl.edu 37 19 50979543 50979543 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50979543 50979543 G A SNP FAM71E1 ENST00000600100 human ensembl 74_37 -1 known missense c.103 p.H35Y 0.000 NULL pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 74 0 0 53 13 19.697 LRRC4B 0 genome.wustl.edu 37 19 51021472 51021472 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 51021472 51021472 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1498 p.G500R 0.994 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,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 LRRC4B HGNC ENSG00000131409 30 0 0 27 4 12.9032 KLK11 0 genome.wustl.edu 37 19 51527542 51527542 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 51527542 51527542 C A SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.318 p.Q106H 0.999 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,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 129 0 0 151 23 13.2184 ZNF480 0 genome.wustl.edu 37 19 52819102 52819102 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 52819102 52819102 A G SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.215 p.D72G 0.002 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 ZNF480 HGNC ENSG00000198464 38 0 0 79 12 13.1868 ZNF701 0 genome.wustl.edu 37 19 53085749 53085749 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 53085749 53085749 C T SNP ZNF701 ENST00000301093 human ensembl 74_37 +1 known missense c.635 p.S212L 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 ZNF701 HGNC ENSG00000167562 180 0 0 240 47 16.3763 ZNF765 0 genome.wustl.edu 37 19 53912301 53912301 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 53912301 53912301 A G SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.1493 p.D498G 0.012 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 ZNF765 HGNC ENSG00000196417 66 0 0 97 13 11.8182 LILRA2 0 genome.wustl.edu 37 19 55098813 55098813 + Nonstop_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 55098813 55098813 A G SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known nonstop c.1452 p.*484W 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 56 0 0 57 14 19.7183 LILRA1 0 genome.wustl.edu 37 19 55107376 55107376 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 55107376 55107376 G A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.934 p.D312N 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 84 0 0 85 10 10.5263 SYT5 0 genome.wustl.edu 37 19 55687229 55687229 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 55687229 55687229 G C SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known missense c.388 p.L130V 0.860 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 175 0 0 150 38 20.2128 HSPBP1 0 genome.wustl.edu 37 19 55790814 55790814 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 55790814 55790814 C T SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known missense c.163 p.A55T 0.999 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 95 0 0 102 15 12.8205 SAFB2 0 genome.wustl.edu 37 19 5587293 5587293 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 5587293 5587293 A G SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.2823 p.P941 0.775 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 29 0 0 34 6 15 ENSG00000269275 0 genome.wustl.edu 37 19 55889305 55889305 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 55889305 55889305 C T SNP ENSG00000269275 ENST00000595064 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2105E13.15 Clone_based_vega_gene ENSG00000269275 54 0 0 67 10 12.987 ZNF835 0 genome.wustl.edu 37 19 57175267 57175267 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 57175267 57175267 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1300 p.A434T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 115 0 0 86 16 15.6863 PEG3 0 genome.wustl.edu 37 19 57335816 57335816 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 57335816 57335816 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.208 p.L70I 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 140 0 0 135 26 16.1491 ZNF805 0 genome.wustl.edu 37 19 57765984 57765984 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 57765984 57765984 T C SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known silent c.1797 p.T599 0.529 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 ZNF805 HGNC ENSG00000204524 44 0 0 52 9 14.7541 CATSPERD 0 genome.wustl.edu 37 19 5778543 5778543 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 5778543 5778543 C T SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.2253 p.R751 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 101 0 0 96 31 24.4094 ZNF211 0 genome.wustl.edu 37 19 58153457 58153457 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 58153457 58153457 A G SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.1642 p.R548G 0.005 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 ZNF211 HGNC ENSG00000121417 157 0 0 190 47 19.8312 ZNF586 0 genome.wustl.edu 37 19 58288015 58288015 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 58288015 58288015 C T SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known silent c.141 p.T47 0.142 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 ZNF586 HGNC ENSG00000083828 302 0 0 354 63 15.1079 ZNF606 0 genome.wustl.edu 37 19 58490178 58490178 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 58490178 58490178 A T SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1870 p.Y624N 0.999 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 ZNF606 HGNC ENSG00000166704 89 0 0 132 22 14.2857 ZNF329 0 genome.wustl.edu 37 19 58640644 58640644 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 58640644 58640644 C T SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.227 p.S76N 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 125 1 0.793651 132 20 13.1579 RPS5 0 genome.wustl.edu 37 19 58904820 58904820 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 58904820 58904820 C T SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known missense c.413 p.A138V 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 102 0 0 130 19 12.7517 C3 0 genome.wustl.edu 37 19 6712378 6712378 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 6712378 6712378 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1159 p.V387I 0.002 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 79 0 0 61 12 16.4384 C3 0 genome.wustl.edu 37 19 6719344 6719344 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 6719344 6719344 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.145 p.A49T 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 163 0 0 168 24 12.5 INSR 0 genome.wustl.edu 37 19 7117116 7117116 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 7117116 7117116 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.4100 p.G1367D 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 196 0 0 221 42 15.9696 R3HDM4 0 genome.wustl.edu 37 19 899642 899642 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 899642 899642 G A SNP R3HDM4 ENST00000361574 human ensembl 74_37 -1 known silent c.606 p.S202 0.960 pfscan_R3H_ss-bd pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC ENSG00000198858 30 0 0 30 10 25 KISS1R 0 genome.wustl.edu 37 19 920352 920352 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 920352 920352 C T SNP KISS1R ENST00000606939 human ensembl 74_37 +1 novel missense c.568 p.R190C 0.445 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_KiSS_1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt - no_errors KISS1R HGNC ENSG00000116014 17 0 0 11 6 35.2941 ZNF177 0 genome.wustl.edu 37 19 9489757 9489757 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 9489757 9489757 C A SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.153 p.A51 0.049 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 ZNF177 HGNC ENSG00000188629 63 0 0 77 20 20.6186 ZNF266 0 genome.wustl.edu 37 19 9529198 9529198 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 9529198 9529198 T G SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.17 p.K6T 0.623 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 107 0 0 145 29 16.6667 PIN1 0 genome.wustl.edu 37 19 9958825 9958825 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 9958825 9958825 G T SNP PIN1 ENST00000587625 human ensembl 74_37 +1 putative nonsense c.391 p.G131* 0.003 NULL pfam_WW_dom,pfam_PPIase_PpiC,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 49 0 0 31 12 27.907 FHL2 0 genome.wustl.edu 37 2 105979823 105979823 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 105979823 105979823 G A SNP FHL2 ENST00000322142 human ensembl 74_37 -1 known missense c.607 p.R203C 0.998 pfam_Znf_LIM,smart_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL2 HGNC ENSG00000115641 27 0 0 46 6 11.5385 SH3RF3 0 genome.wustl.edu 37 2 110015388 110015388 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 110015388 110015388 G T SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known missense c.1288 p.A430S 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 26 0 0 32 5 13.5135 KCNF1 0 genome.wustl.edu 37 2 11052611 11052611 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 11052611 11052611 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.59 p.S20N 0.985 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 16 0 0 16 4 20 KCNF1 0 genome.wustl.edu 37 2 11053197 11053197 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 11053197 11053197 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known silent c.645 p.N215 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 65 0 0 66 16 19.5122 ANAPC1 0 genome.wustl.edu 37 2 112601104 112601104 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 112601104 112601104 T C SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.1925 p.Y642C 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 25 0 0 54 3 5.26316 ANAPC1 0 genome.wustl.edu 37 2 112621367 112621367 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 112621367 112621367 A G SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.937 p.S313P 0.951 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 58 0 0 95 19 16.6667 IL36RN 0 genome.wustl.edu 37 2 113820192 113820192 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 113820192 113820192 C A SNP IL36RN ENST00000346807 human ensembl 74_37 +1 known missense c.406 p.L136I 0.121 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_alpha/beta - no_errors IL36RN HGNC ENSG00000136695 70 0 0 75 19 20.2128 CNTNAP5 0 genome.wustl.edu 37 2 125192241 125192241 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 125192241 125192241 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.710 p.R237M 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 29 0 0 28 6 17.6471 MYO7B 0 genome.wustl.edu 37 2 128345990 128345990 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 128345990 128345990 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1714 p.V572M 0.120 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 43 0 0 38 13 25.4902 NCKAP5 0 genome.wustl.edu 37 2 133540748 133540748 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 133540748 133540748 A T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3636 p.D1212E 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 86 0 0 78 21 21.2121 MAP3K19 0 genome.wustl.edu 37 2 135738531 135738531 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 135738531 135738531 C A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.3780 p.M1260I 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 MAP3K19 HGNC ENSG00000176601 75 0 0 88 9 9.27835 DARS 0 genome.wustl.edu 37 2 136719000 136719000 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 136719000 136719000 G T SNP DARS ENST00000264161 human ensembl 74_37 -1 known missense c.286 p.H96N 1.000 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Asp-tRNA_synthase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA_synthase - no_errors DARS HGNC ENSG00000115866 38 0 0 65 17 20.7317 ZEB2 0 genome.wustl.edu 37 2 145156721 145156721 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 145156721 145156721 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2033 p.S678F 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 130 0 0 156 41 20.8122 RBM43 0 genome.wustl.edu 37 2 152107949 152107949 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 152107949 152107949 C T SNP RBM43 ENST00000331426 human ensembl 74_37 -1 known missense c.545 p.S182N 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 126 0 0 153 31 16.8478 MYCN 0 genome.wustl.edu 37 2 16085828 16085828 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 16085828 16085828 C T SNP MYCN ENST00000281043 human ensembl 74_37 +1 known missense c.1004 p.P335L 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 70 0 0 42 17 28.8136 FIGN 0 genome.wustl.edu 37 2 164467312 164467312 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 164467312 164467312 T C SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1030 p.T344A 0.999 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 121 0 0 168 22 11.5789 PXDN 0 genome.wustl.edu 37 2 1652323 1652323 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 1652323 1652323 C A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3229 p.V1077F 0.517 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 48 0 0 49 7 12.5 SCN2A 0 genome.wustl.edu 37 2 166164371 166164371 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 166164371 166164371 C G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.400 p.L134V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 165 0 0 247 38 13.3333 CSRNP3 0 genome.wustl.edu 37 2 166535566 166535566 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 166535566 166535566 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1061 p.S354N 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 124 0 0 161 37 18.6869 LRP2 0 genome.wustl.edu 37 2 170034507 170034507 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 170034507 170034507 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10199 p.H3400R 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 61 0 0 56 15 21.1268 KLHL23 0 genome.wustl.edu 37 2 170592513 170592513 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 170592513 170592513 C T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.989 p.T330M 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 183 0 0 258 51 16.5049 HAT1 0 genome.wustl.edu 37 2 172841220 172841220 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 172841220 172841220 G T SNP HAT1 ENST00000264108 human ensembl 74_37 +1 known missense c.948 p.E316D 0.982 superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 37 0 0 53 9 14.5161 ITGA6 0 genome.wustl.edu 37 2 173337581 173337581 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 173337581 173337581 T C SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known silent c.855 p.P285 0.891 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 128 0 0 166 24 12.6316 RBM45 0 genome.wustl.edu 37 2 178977345 178977345 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 178977345 178977345 C T SNP RBM45 ENST00000286070 human ensembl 74_37 +1 known silent c.72 p.P24 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 70 0 0 85 26 23.4234 TTN 0 genome.wustl.edu 37 2 179400220 179400220 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179400220 179400220 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.93418 p.L31140V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 62 0 0 85 17 16.6667 TTN 0 genome.wustl.edu 37 2 179437337 179437337 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179437337 179437337 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.65818 p.K21940E 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 85 0 0 103 29 21.9697 TTN 0 genome.wustl.edu 37 2 179446674 179446674 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179446674 179446674 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58718 p.P19573R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 77 0 0 95 19 16.6667 TTN 0 genome.wustl.edu 37 2 179454780 179454780 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179454780 179454780 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.53968 p.A17990T 1.000 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 59 0 0 69 17 19.7674 TTN 0 genome.wustl.edu 37 2 179498051 179498051 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179498051 179498051 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.35245 p.R11749* 1.000 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 107 0 0 151 28 15.6425 SSFA2 0 genome.wustl.edu 37 2 182784165 182784165 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 182784165 182784165 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.3136 p.A1046T 0.003 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 140 0 0 193 39 16.8103 STRADB 0 genome.wustl.edu 37 2 202342485 202342485 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 202342485 202342485 C T SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.692 p.P231L 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 STRADB HGNC ENSG00000082146 159 0 0 174 39 18.3099 PARD3B 0 genome.wustl.edu 37 2 206110504 206110504 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 206110504 206110504 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2143 p.P715S 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 49 0 0 103 21 16.9355 CPS1 0 genome.wustl.edu 37 2 211473216 211473216 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 211473216 211473216 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2342 p.R781H 1.000 tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 109 0 0 136 18 11.6883 APOB 0 genome.wustl.edu 37 2 21238054 21238054 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 21238054 21238054 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3587 p.D1196A 0.994 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 99 0 0 112 29 20.5674 ERBB4 0 genome.wustl.edu 37 2 212426794 212426794 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 212426794 212426794 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2321 p.S774N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 99 0 0 89 11 11 ABCA12 0 genome.wustl.edu 37 2 215835098 215835098 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 215835098 215835098 T C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5589 p.P1863 0.997 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 57 0 0 82 13 13.6842 TNS1 0 genome.wustl.edu 37 2 218757703 218757703 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 218757703 218757703 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.375 p.A125 0.054 smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 75 0 0 73 9 10.9756 ARPC2 0 genome.wustl.edu 37 2 219099093 219099093 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 219099093 219099093 G T SNP ARPC2 ENST00000295685 human ensembl 74_37 +1 known missense c.241 p.G81W 1.000 pfam_P34-arc pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 79 0 0 132 21 13.7255 IHH 0 genome.wustl.edu 37 2 219920565 219920565 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 219920565 219920565 C T SNP IHH ENST00000295731 human ensembl 74_37 -1 known silent c.600 p.T200 0.118 pirsf_Hedgehog,pfam_Hint_dom,prints_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 44 0 0 28 11 28.2051 TUBA4B 0 genome.wustl.edu 37 2 220136510 220136510 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 220136510 220136510 T C SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors TUBA4B HGNC ENSG00000243910 116 0 0 109 22 16.7939 SPEG 0 genome.wustl.edu 37 2 220329302 220329302 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 220329302 220329302 G A SNP SPEG ENST00000396695 human ensembl 74_37 +1 known silent c.477 p.R159 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 84 0 0 80 9 10.1124 SPEG 0 genome.wustl.edu 37 2 220342493 220342493 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 220342493 220342493 C A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.4812 p.H1604Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 66 0 0 73 13 15.1163 INHA 0 genome.wustl.edu 37 2 220439918 220439918 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 220439918 220439918 T C SNP INHA ENST00000243786 human ensembl 74_37 +1 known silent c.771 p.A257 0.000 pirsf_Inhibin_asu_subgr,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 85 0 0 96 25 20.6612 IRS1 0 genome.wustl.edu 37 2 227662289 227662289 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 227662289 227662289 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.1166 p.P389L 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 142 0 0 103 27 20.7692 PSMD1 0 genome.wustl.edu 37 2 232011035 232011035 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 232011035 232011035 A G SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.2080 p.I694V 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 93 0 0 146 28 16.092 NMUR1 0 genome.wustl.edu 37 2 232390057 232390057 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 232390057 232390057 C A SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known missense c.978 p.W326C 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_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 107 1 0.925926 83 21 20.1923 ALPI 0 genome.wustl.edu 37 2 233321171 233321171 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 233321171 233321171 C T SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.180 p.G60 0.002 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 121 0 0 122 23 15.8621 GIGYF2 0 genome.wustl.edu 37 2 233626135 233626135 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 233626135 233626135 G A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.521 p.R174Q 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 37 0 0 53 18 25.3521 AGAP1 0 genome.wustl.edu 37 2 237028961 237028961 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 237028961 237028961 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2240 p.T747M 0.319 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 143 0 0 107 23 17.6923 ASB1 0 genome.wustl.edu 37 2 239344627 239344627 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 239344627 239344627 G A SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.467 p.R156Q 0.978 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 52 0 0 34 6 15 HDLBP 0 genome.wustl.edu 37 2 242179357 242179357 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 242179357 242179357 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known nonsense c.2350 p.R784* 0.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 99 0 0 118 13 9.92366 NCOA1 0 genome.wustl.edu 37 2 24962359 24962359 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 24962359 24962359 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3260 p.G1087D 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 NCOA1 HGNC ENSG00000084676 79 0 0 105 17 13.9344 OTOF 0 genome.wustl.edu 37 2 26696374 26696374 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 26696374 26696374 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3470 p.R1157Q 1.000 pfam_C2_dom,superfamily_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 98 0 0 108 18 14.2857 CAPN13 0 genome.wustl.edu 37 2 30998797 30998797 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 30998797 30998797 C T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.386 p.R129Q 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 66 0 0 60 16 21.0526 BIRC6 0 genome.wustl.edu 37 2 32688342 32688342 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 32688342 32688342 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4834 p.A1612T 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 35 0 0 36 11 23.4043 GALM 0 genome.wustl.edu 37 2 38908522 38908522 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 38908522 38908522 C T SNP GALM ENST00000272252 human ensembl 74_37 +1 known missense c.446 p.T149I 0.999 pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom - no_errors GALM HGNC ENSG00000143891 179 0 0 211 39 15.6 PRKCE 0 genome.wustl.edu 37 2 46234667 46234667 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 46234667 46234667 G T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1130 p.R377L 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 80 0 0 112 18 13.8462 FOXN2 0 genome.wustl.edu 37 2 48602420 48602420 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 48602420 48602420 A G SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known silent c.1134 p.K378 0.152 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 55 0 0 62 12 16.2162 FSHR 0 genome.wustl.edu 37 2 49210274 49210274 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 49210274 49210274 G A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.556 p.H186Y 1.000 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 30 0 0 53 10 15.873 SPTBN1 0 genome.wustl.edu 37 2 54856337 54856337 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 54856337 54856337 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.2066 p.G689D 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 105 0 0 100 27 21.2598 SPTBN1 0 genome.wustl.edu 37 2 54895586 54895586 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 54895586 54895586 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.6975 p.R2325 0.780 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 92 0 0 122 15 10.9489 BCL11A 0 genome.wustl.edu 37 2 60688902 60688902 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 60688902 60688902 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1145 p.C382Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 187 0 0 165 27 14.0625 CEP68 0 genome.wustl.edu 37 2 65305048 65305048 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 65305048 65305048 T C SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.2054 p.V685A 0.992 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 67 0 0 61 14 18.6667 ARHGAP25 0 genome.wustl.edu 37 2 69034514 69034514 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 69034514 69034514 C A SNP ARHGAP25 ENST00000488795 human ensembl 74_37 +1 known missense c.371 p.A124D 0.853 pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ARHGAP25 HGNC ENSG00000163219 94 0 0 93 16 14.6789 AAK1 0 genome.wustl.edu 37 2 69748102 69748102 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 69748102 69748102 G A SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known silent c.1074 p.P358 0.927 superfamily_Kinase-like_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 AAK1 HGNC ENSG00000115977 85 0 0 95 23 19.4915 ADD2 0 genome.wustl.edu 37 2 70922922 70922922 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 70922922 70922922 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.486 p.S162 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 38 0 0 46 15 24.5902 DYSF 0 genome.wustl.edu 37 2 71708055 71708055 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 71708055 71708055 C A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.131 p.P44H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 38 0 0 59 11 15.7143 SLC4A5 0 genome.wustl.edu 37 2 74513011 74513011 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 74513011 74513011 T G SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.290 p.Q97P 1.000 NULL 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 SLC4A5 HGNC ENSG00000188687 25 0 0 18 3 14.2857 HK2 0 genome.wustl.edu 37 2 75116469 75116469 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 75116469 75116469 G A SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2473 p.V825M 0.996 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 71 0 0 64 12 15.7895 REG1P 0 genome.wustl.edu 37 2 79365218 79365218 + RNA SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 79365218 79365218 G T SNP REG1P ENST00000414597 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors REG1P HGNC ENSG00000204787 14 0 0 21 4 16 REG3A 0 genome.wustl.edu 37 2 79386462 79386462 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 79386462 79386462 C A SNP REG3A ENST00000305165 human ensembl 74_37 -1 known missense c.70 p.V24F 0.059 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC ENSG00000172016 95 0 0 97 17 14.9123 SNRNP200 0 genome.wustl.edu 37 2 96950779 96950779 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 96950779 96950779 C T SNP SNRNP200 ENST00000349783 human ensembl 74_37 -1 known missense c.1673 p.R558H 0.001 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Sec63-dom,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors SNRNP200 HGNC ENSG00000144028 8 0 0 9 3 25 FAHD2B 0 genome.wustl.edu 37 2 97751467 97751467 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 97751467 97751467 G A SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known silent c.654 p.G218 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 75 0 0 100 21 17.3554 ANKEF1 0 genome.wustl.edu 37 20 10026338 10026338 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 10026338 10026338 T G SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known silent c.813 p.A271 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 35 0 0 57 14 19.7183 ANKEF1 0 genome.wustl.edu 37 20 10036204 10036204 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 10036204 10036204 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known nonsense c.2227 p.R743* 0.900 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 73 0 0 64 11 14.6667 SLC24A3 0 genome.wustl.edu 37 20 19701764 19701764 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 19701764 19701764 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.1915 p.P639S 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 112 0 0 132 26 16.4557 RIN2 0 genome.wustl.edu 37 20 19972890 19972890 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 19972890 19972890 C T SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known missense c.2294 p.T765I 0.960 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 11 0 0 25 5 16.6667 INSM1 0 genome.wustl.edu 37 20 20349795 20349795 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 20349795 20349795 A G SNP INSM1 ENST00000310227 human ensembl 74_37 +1 known missense c.884 p.Y295C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM1 HGNC ENSG00000173404 35 0 0 32 6 15.7895 NKX2-2 0 genome.wustl.edu 37 20 21493107 21493107 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 21493107 21493107 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known silent c.276 p.A92 0.351 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 13 0 0 13 6 31.5789 PYGB 0 genome.wustl.edu 37 20 25257947 25257947 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 25257947 25257947 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.840 p.L280 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 69 0 0 86 17 16.5049 NINL 0 genome.wustl.edu 37 20 25456869 25456869 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 25456869 25456869 C A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.3058 p.G1020W 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 110 0 0 142 34 19.3182 NINL 0 genome.wustl.edu 37 20 25457248 25457248 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 25457248 25457248 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.2679 p.P893 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 25 0 0 21 4 16 C20orf96 0 genome.wustl.edu 37 20 259839 259839 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 259839 259839 G T SNP C20orf96 ENST00000360321 human ensembl 74_37 -1 known missense c.439 p.L147M 0.005 NULL NULL - no_errors C20orf96 HGNC ENSG00000196476 40 0 0 42 11 20.7547 REM1 0 genome.wustl.edu 37 20 30064348 30064348 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 30064348 30064348 A C SNP REM1 ENST00000201979 human ensembl 74_37 +1 known missense c.100 p.S34R 0.882 pirsf_Small_GTPase_GEM/REM/Rad pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 141 0 0 152 34 18.2796 ASXL1 0 genome.wustl.edu 37 20 31023219 31023219 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 31023219 31023219 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.2704 p.P902S 0.001 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 103 0 0 143 29 16.8605 C20orf112 0 genome.wustl.edu 37 20 31040055 31040055 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 31040055 31040055 T C SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known silent c.1074 p.T358 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 65 0 0 64 16 20 COMMD7 0 genome.wustl.edu 37 20 31315724 31315724 + Nonsense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 31315724 31315724 T A SNP COMMD7 ENST00000278980 human ensembl 74_37 -1 known nonsense c.217 p.K73* 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC ENSG00000149600 99 0 0 98 23 19.0083 DNMT3B 0 genome.wustl.edu 37 20 31389173 31389173 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 31389173 31389173 T C SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.2086 p.F696L 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 74 0 0 77 28 26.6667 C20orf194 0 genome.wustl.edu 37 20 3299036 3299036 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 3299036 3299036 G A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.1368 p.A456 0.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 70 0 0 120 25 17.2414 TGM2 0 genome.wustl.edu 37 20 36779433 36779433 + Nonsense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 36779433 36779433 C A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known nonsense c.460 p.E154* 0.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 162 0 0 173 37 17.619 TGM2 0 genome.wustl.edu 37 20 36779450 36779450 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 36779450 36779450 A C SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.443 p.V148G 0.965 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 158 0 0 154 36 18.9474 HSPA12B 0 genome.wustl.edu 37 20 3732766 3732766 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 3732766 3732766 A G SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known missense c.2014 p.S672G 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 37 0 0 41 6 12.766 CENPB 0 genome.wustl.edu 37 20 3766572 3766572 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 3766572 3766572 C T SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.559 p.A187T 0.968 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 80 0 0 69 10 12.6582 ZSWIM3 0 genome.wustl.edu 37 20 44505691 44505691 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 44505691 44505691 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.494 p.G165D 0.004 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 109 0 0 95 20 17.3913 SPATA2 0 genome.wustl.edu 37 20 48524813 48524813 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 48524813 48524813 C T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.215 p.S72N 1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 126 0 0 140 33 19.0751 PROKR2 0 genome.wustl.edu 37 20 5283318 5283318 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 5283318 5283318 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.523 p.A175T 0.245 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 217 0 0 228 22 8.8 GPCPD1 0 genome.wustl.edu 37 20 5564949 5564949 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 5564949 5564949 G A SNP GPCPD1 ENST00000379019 human ensembl 74_37 -1 known silent c.327 p.D109 0.906 superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 54 0 0 75 16 17.5824 ZNF831 0 genome.wustl.edu 37 20 57769284 57769284 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 57769284 57769284 T C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.3210 p.G1070 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 44 0 0 53 8 13.1148 PSMA7 0 genome.wustl.edu 37 20 60714763 60714763 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 60714763 60714763 T A SNP PSMA7 ENST00000370858 human ensembl 74_37 -1 known missense c.422 p.H141L 0.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA7 HGNC ENSG00000101182 43 0 0 41 9 18 DIDO1 0 genome.wustl.edu 37 20 61512442 61512442 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 61512442 61512442 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.4866 p.G1622 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 35 0 0 36 8 18.1818 KCNQ2 0 genome.wustl.edu 37 20 62076690 62076690 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 62076690 62076690 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.415 p.V139M 0.998 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 124 0 0 115 18 13.5338 UCKL1 0 genome.wustl.edu 37 20 62576024 62576024 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 62576024 62576024 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.718 p.R240W 0.186 pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 50 0 0 42 7 14.2857 MYT1 0 genome.wustl.edu 37 20 62837074 62837074 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 62837074 62837074 T C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.318 p.D106 0.935 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 66 0 0 40 10 20 NRIP1 0 genome.wustl.edu 37 21 16338052 16338052 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 16338052 16338052 C T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.2462 p.R821Q 0.997 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 62 0 0 103 14 11.9658 LINC00478 0 genome.wustl.edu 37 21 17443679 17443679 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 17443679 17443679 G A SNP LINC00478 ENST00000400178 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00478 HGNC ENSG00000215386 46 0 0 63 13 17.1053 MRPL39 0 genome.wustl.edu 37 21 26979747 26979747 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 26979747 26979747 C T SNP MRPL39 ENST00000307301 human ensembl 74_37 -1 known nonsense c.41 p.W14* 0.001 NULL superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_TGS-like - no_errors MRPL39 HGNC ENSG00000154719 75 0 0 90 15 14.2857 BACH1 0 genome.wustl.edu 37 21 30714967 30714967 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 30714967 30714967 G A SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.2024 p.R675Q 0.335 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 102 0 0 100 21 17.3554 KRTAP26-1 0 genome.wustl.edu 37 21 31691902 31691902 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 31691902 31691902 T G SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known missense c.452 p.K151T 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 359 0 0 373 63 14.4495 HUNK 0 genome.wustl.edu 37 21 33318443 33318443 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 33318443 33318443 G A SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.706 p.A236T 0.997 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_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 72 0 0 91 13 12.5 IFNAR1 0 genome.wustl.edu 37 21 34721569 34721569 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 34721569 34721569 G T SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known nonsense c.961 p.E321* 0.991 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 63 0 0 123 24 16.3265 SON 0 genome.wustl.edu 37 21 34948684 34948684 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 34948684 34948684 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.7235 p.G2412E 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 23 0 0 59 8 11.9403 HLCS 0 genome.wustl.edu 37 21 38308845 38308845 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 38308845 38308845 G T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known silent c.900 p.P300 0.000 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 147 1 0.675676 144 38 20.8791 TTC3 0 genome.wustl.edu 37 21 38525304 38525304 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 38525304 38525304 T C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.2467 p.C823R 1.000 superfamily_DEATH-like_dom 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 49 0 0 63 12 16 DSCR4 0 genome.wustl.edu 37 21 39493330 39493330 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 39493330 39493330 G A SNP DSCR4 ENST00000328264 human ensembl 74_37 -1 known missense c.20 p.T7M 0.020 NULL NULL - no_errors DSCR4 HGNC ENSG00000184029 47 0 0 82 12 12.766 KCNJ15 0 genome.wustl.edu 37 21 39671647 39671647 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 39671647 39671647 T C SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.464 p.L155S 0.991 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_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_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 99 0 0 87 21 19.4444 ETS2 0 genome.wustl.edu 37 21 40181960 40181960 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 40181960 40181960 T C SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 18 0 0 25 5 16.6667 ZBTB21 0 genome.wustl.edu 37 21 43411690 43411690 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 43411690 43411690 C T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2515 p.V839I 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 123 0 0 141 27 16.0714 UBASH3A 0 genome.wustl.edu 37 21 43863456 43863456 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 43863456 43863456 G A SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.1666 p.E556K 0.944 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 34 0 0 34 4 10.5263 PKNOX1 0 genome.wustl.edu 37 21 44448975 44448975 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 44448975 44448975 A G SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.1090 p.M364V 0.998 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 100 0 0 104 18 14.7541 C21orf33 0 genome.wustl.edu 37 21 45563112 45563112 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 45563112 45563112 G A SNP C21orf33 ENST00000291577 human ensembl 74_37 +1 known missense c.547 p.A183T 1.000 pfam_ThiJ/PfpI pfam_ThiJ/PfpI - no_errors C21orf33 HGNC ENSG00000160221 76 0 0 71 17 19.3182 ICOSLG 0 genome.wustl.edu 37 21 45657075 45657075 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 45657075 45657075 C T SNP ICOSLG ENST00000344330 human ensembl 74_37 -1 known silent c.81 p.A27 0.014 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 79 0 0 87 19 17.9245 POFUT2 0 genome.wustl.edu 37 21 46702346 46702346 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 46702346 46702346 T C SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known missense c.556 p.R186G 0.875 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 46 0 0 66 8 10.8108 S100B 0 genome.wustl.edu 37 21 48019327 48019327 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 48019327 48019327 G T SNP S100B ENST00000291700 human ensembl 74_37 -1 known silent c.228 p.A76 0.984 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100B HGNC ENSG00000160307 124 0 0 145 30 17.1429 SLC25A18 0 genome.wustl.edu 37 22 18064145 18064145 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 18064145 18064145 G A SNP SLC25A18 ENST00000327451 human ensembl 74_37 +1 known silent c.165 p.T55 0.001 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 185 0 0 172 32 15.6863 MICAL3 0 genome.wustl.edu 37 22 18389447 18389447 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 18389447 18389447 C A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.132 p.K44N 0.979 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 175 0 0 209 37 15.0407 ARVCF 0 genome.wustl.edu 37 22 19965081 19965081 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 19965081 19965081 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1727 p.R576Q 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 111 0 0 106 25 19.084 ZDHHC8 0 genome.wustl.edu 37 22 20130875 20130875 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 20130875 20130875 C T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.1722 p.G574 0.991 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 19 0 0 13 4 23.5294 SCARF2 0 genome.wustl.edu 37 22 20786261 20786261 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 20786261 20786261 G A SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known missense c.188 p.T63M 0.998 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 28 0 0 35 11 23.913 AIFM3 0 genome.wustl.edu 37 22 21322261 21322261 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 21322261 21322261 C T SNP AIFM3 ENST00000335375 human ensembl 74_37 +1 known nonsense c.103 p.Q35* 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Rieske_2Fe-2S,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 73 0 0 80 12 13.0435 SLC7A4 0 genome.wustl.edu 37 22 21384146 21384146 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 21384146 21384146 C A SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1477 p.G493C 0.802 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 50 0 0 40 9 18.3673 PPM1F 0 genome.wustl.edu 37 22 22285632 22285632 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 22285632 22285632 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.779 p.A260V 0.026 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 PPM1F HGNC ENSG00000100034 76 0 0 88 17 16.1905 RAB36 0 genome.wustl.edu 37 22 23503094 23503094 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 23503094 23503094 C T SNP RAB36 ENST00000263116 human ensembl 74_37 +1 known silent c.846 p.R282 0.001 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 99 0 0 102 17 14.2857 ZNF70 0 genome.wustl.edu 37 22 24086127 24086127 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 24086127 24086127 G A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known missense c.1201 p.R401W 0.553 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 185 0 0 220 49 18.2156 GGT5 0 genome.wustl.edu 37 22 24629866 24629866 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 24629866 24629866 A T SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.280 p.F94I 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 101 0 0 102 21 17.0732 FAM211B 0 genome.wustl.edu 37 22 24982323 24982323 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 24982323 24982323 C T SNP FAM211B ENST00000318753 human ensembl 74_37 -1 known missense c.479 p.G160D 0.998 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 403 0 0 363 68 15.7773 CCDC117 0 genome.wustl.edu 37 22 29169749 29169749 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 29169749 29169749 G A SNP CCDC117 ENST00000249064 human ensembl 74_37 +1 known silent c.222 p.E74 0.997 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 45 0 0 63 5 7.35294 AP1B1 0 genome.wustl.edu 37 22 29750678 29750678 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 29750678 29750678 T C SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.899 p.Y300C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 94 0 0 106 17 13.8211 SMTN 0 genome.wustl.edu 37 22 31487726 31487726 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 31487726 31487726 A G SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.1525 p.I509V 0.996 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 43 0 0 37 4 9.7561 DEPDC5 0 genome.wustl.edu 37 22 32241050 32241050 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 32241050 32241050 C A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2848 p.P950T 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 91 0 0 122 19 13.4752 LARGE 0 genome.wustl.edu 37 22 34157419 34157419 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 34157419 34157419 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known silent c.45 p.S15 0.630 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 137 0 0 167 24 12.5654 MYH9 0 genome.wustl.edu 37 22 36697759 36697759 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 36697759 36697759 G A SNP MYH9 ENST00000495928 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYH9 HGNC ENSG00000100345 37 0 0 35 9 20.4545 MYH9 0 genome.wustl.edu 37 22 36745257 36745257 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 36745257 36745257 A G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.25 p.Y9H 1.000 NULL 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 48 0 0 47 14 22.9508 EIF3D 0 genome.wustl.edu 37 22 36916708 36916708 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 36916708 36916708 G A SNP EIF3D ENST00000216190 human ensembl 74_37 -1 known missense c.493 p.R165C 0.110 pfam_eIF3d,pirsf_eIF3d pfam_eIF3d,pirsf_eIF3d - no_errors EIF3D HGNC ENSG00000100353 29 0 0 34 12 26.087 DMC1 0 genome.wustl.edu 37 22 38948670 38948670 + Splice_Site SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 38948670 38948670 C T SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known splice_site c.421+1 e6+1 1.000 - - - no_errors DMC1 HGNC ENSG00000100206 25 0 0 50 7 12.2807 TNRC6B 0 genome.wustl.edu 37 22 40657998 40657998 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 40657998 40657998 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.278 p.P93L 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 39 0 0 21 5 19.2308 TTLL12 0 genome.wustl.edu 37 22 43569788 43569788 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 43569788 43569788 C T SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.1274 p.R425H 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 75 0 0 72 16 18.1818 PARVB 0 genome.wustl.edu 37 22 44547380 44547380 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 44547380 44547380 G A SNP PARVB ENST00000406477 human ensembl 74_37 +1 known silent c.891 p.V297 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 67 0 0 101 15 12.931 TBC1D22A 0 genome.wustl.edu 37 22 47188435 47188435 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 47188435 47188435 T C SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known silent c.81 p.G27 0.993 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 149 0 0 180 34 15.8879 SBF1 0 genome.wustl.edu 37 22 50905867 50905867 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 50905867 50905867 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.449 p.G150D 0.964 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 168 0 0 153 30 16.3934 TYMP 0 genome.wustl.edu 37 22 50967711 50967711 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 50967711 50967711 G C SNP TYMP ENST00000252029 human ensembl 74_37 -1 known missense c.271 p.L91V 0.836 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 70 0 0 52 8 13.3333 BBX 0 genome.wustl.edu 37 3 107491837 107491837 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 107491837 107491837 C T SNP BBX ENST00000325805 human ensembl 74_37 +1 known silent c.1269 p.P423 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 108 0 0 172 27 13.5678 MYH15 0 genome.wustl.edu 37 3 108124288 108124288 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 108124288 108124288 G A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4693 p.R1565C 0.362 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 21 0 0 42 9 17.6471 MYH15 0 genome.wustl.edu 37 3 108129761 108129761 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 108129761 108129761 T A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4224 p.R1408S 0.014 pfam_Myosin_tail,superfamily_Lambda_DNA-bd_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 53 0 0 34 3 8.10811 KIAA1407 0 genome.wustl.edu 37 3 113723471 113723471 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 113723471 113723471 G A SNP KIAA1407 ENST00000545063 human ensembl 74_37 -1 known missense c.1484 p.S495L 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 161 0 0 189 41 17.8261 LSAMP 0 genome.wustl.edu 37 3 115561349 115561349 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 115561349 115561349 C T SNP LSAMP ENST00000490035 human ensembl 74_37 -1 known silent c.726 p.S242 0.056 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 72 0 0 49 9 15.5172 B4GALT4 0 genome.wustl.edu 37 3 118943093 118943093 + Splice_Site SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 118943093 118943093 C A SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known splice_site c.487-1 e3-1 1.000 - - - no_errors B4GALT4 HGNC ENSG00000121578 32 0 0 41 9 18 ARHGAP31 0 genome.wustl.edu 37 3 119133473 119133473 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 119133473 119133473 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.2697 p.Q899 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 164 1 0.606061 170 9 5.02793 MAATS1 0 genome.wustl.edu 37 3 119466108 119466108 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 119466108 119466108 C T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known silent c.2049 p.S683 0.010 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 83 0 0 111 13 10.4839 GPR156 0 genome.wustl.edu 37 3 119887170 119887170 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 119887170 119887170 C A SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1154 p.R385M 0.795 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 59 0 0 99 17 14.6552 HSPBAP1 0 genome.wustl.edu 37 3 122471515 122471515 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 122471515 122471515 A G SNP HSPBAP1 ENST00000306103 human ensembl 74_37 -1 known missense c.748 p.F250L 0.999 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 24 0 0 47 7 12.963 SLC12A8 0 genome.wustl.edu 37 3 124811006 124811006 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 124811006 124811006 A G SNP SLC12A8 ENST00000423114 human ensembl 74_37 -1 known missense c.1829 p.V610A 0.016 superfamily_ABC1_TM_dom pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 60 0 0 103 7 6.36364 OSBPL11 0 genome.wustl.edu 37 3 125266321 125266321 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 125266321 125266321 G A SNP OSBPL11 ENST00000296220 human ensembl 74_37 -1 known silent c.1770 p.N590 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 94 0 0 127 31 19.6203 ROPN1B 0 genome.wustl.edu 37 3 125691012 125691012 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 125691012 125691012 G A SNP ROPN1B ENST00000251776 human ensembl 74_37 +1 known missense c.115 p.D39N 0.977 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 53 0 0 69 18 20.6897 RAF1 0 genome.wustl.edu 37 3 12626102 12626102 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 12626102 12626102 C T SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.1918 p.A640T 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 121 0 0 121 19 13.5714 PLXNA1 0 genome.wustl.edu 37 3 126707946 126707946 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 126707946 126707946 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.510 p.A170 0.023 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 47 0 0 47 9 16.0714 PLXNA1 0 genome.wustl.edu 37 3 126735448 126735448 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 126735448 126735448 C A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.3103 p.L1035I 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 111 0 0 106 24 18.4615 RHO 0 genome.wustl.edu 37 3 129251458 129251458 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 129251458 129251458 C T SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.779 p.A260V 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 78 0 0 70 17 19.5402 IQSEC1 0 genome.wustl.edu 37 3 12977365 12977365 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 12977365 12977365 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1193 p.R398Q 0.992 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 68 0 0 65 10 13.3333 IQSEC1 0 genome.wustl.edu 37 3 12977560 12977560 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 12977560 12977560 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.998 p.R333Q 0.995 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 120 1 0.826446 94 21 18.2609 NUDT16P1 0 genome.wustl.edu 37 3 131082241 131082241 + RNA SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 131082241 131082241 G C SNP NUDT16P1 ENST00000499077 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NUDT16P Clone_based_vega_gene ENSG00000246082 35 0 0 37 6 13.9535 STAG1 0 genome.wustl.edu 37 3 136287655 136287655 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 136287655 136287655 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 38 0 0 41 5 10.8696 ESYT3 0 genome.wustl.edu 37 3 138193142 138193142 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 138193142 138193142 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.2416 p.R806C 0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 109 0 0 116 36 23.6842 NMNAT3 0 genome.wustl.edu 37 3 139279984 139279984 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 139279984 139279984 C A SNP NMNAT3 ENST00000296202 human ensembl 74_37 -1 known missense c.627 p.L209F 0.981 tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC ENSG00000163864 121 0 0 145 17 10.4938 TRIM42 0 genome.wustl.edu 37 3 140409957 140409957 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 140409957 140409957 A C SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.2008 p.T670P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 117 0 0 184 24 11.5385 ZBTB38 0 genome.wustl.edu 37 3 141162696 141162696 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 141162696 141162696 C A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1469 p.P490H 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 ZBTB38 HGNC ENSG00000177311 77 0 0 137 20 12.7389 CNTN6 0 genome.wustl.edu 37 3 1424988 1424988 + Missense_Mutation SNP G G C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 1424988 1424988 G C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2413 p.A805P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 218 0 0 276 59 17.6119 PCOLCE2 0 genome.wustl.edu 37 3 142539750 142539750 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 142539750 142539750 C T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.1087 p.V363I 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 85 0 0 79 27 25.4717 U2SURP 0 genome.wustl.edu 37 3 142773855 142773855 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 142773855 142773855 C T SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.2845 p.P949S 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 21 0 0 33 6 15.3846 C3orf58 0 genome.wustl.edu 37 3 143691683 143691683 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 143691683 143691683 G A SNP C3orf58 ENST00000315691 human ensembl 74_37 +1 known missense c.509 p.C170Y 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 15 0 0 7 6 46.1538 AGTR1 0 genome.wustl.edu 37 3 148459562 148459562 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 148459562 148459562 T C SNP AGTR1 ENST00000349243 human ensembl 74_37 +1 known missense c.740 p.L247P 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt - no_errors AGTR1 HGNC ENSG00000144891 68 0 0 105 16 13.2231 GYG1 0 genome.wustl.edu 37 3 148741865 148741865 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 148741865 148741865 C T SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known missense c.634 p.H212Y 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 53 0 0 87 12 12.1212 TSC22D2 0 genome.wustl.edu 37 3 150128715 150128715 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 150128715 150128715 T C SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known silent c.1578 p.V526 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 86 0 0 85 19 18.2692 MED12L 0 genome.wustl.edu 37 3 151105776 151105776 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 151105776 151105776 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5162 p.R1721H 0.992 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 92 0 0 86 14 14 MBNL1 0 genome.wustl.edu 37 3 152163087 152163087 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 152163087 152163087 A G SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.566 p.Q189R 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 53 0 0 88 13 12.8713 GMPS 0 genome.wustl.edu 37 3 155652816 155652816 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 155652816 155652816 T C SNP GMPS ENST00000496455 human ensembl 74_37 +1 known silent c.1788 p.H596 0.991 pfam_GMP_synth_C pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 166 0 0 302 43 12.4638 KCNAB1 0 genome.wustl.edu 37 3 156009716 156009716 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 156009716 156009716 G A SNP KCNAB1 ENST00000302490 human ensembl 74_37 +1 known missense c.20 p.C7Y 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 97 0 0 115 17 12.8788 KCNAB1 0 genome.wustl.edu 37 3 156009905 156009905 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 156009905 156009905 G A SNP KCNAB1 ENST00000302490 human ensembl 74_37 +1 known missense c.209 p.G70D 1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 53 0 0 56 7 11.1111 KCNAB1 0 genome.wustl.edu 37 3 156232930 156232930 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 156232930 156232930 G A SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known silent c.786 p.P262 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 77 0 0 113 28 19.8582 VEPH1 0 genome.wustl.edu 37 3 157081510 157081510 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 157081510 157081510 C T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.1378 p.V460M 0.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 85 0 0 118 30 20.2703 GALNT15 0 genome.wustl.edu 37 3 16261500 16261500 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 16261500 16261500 C T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.1608 p.C536 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 233 0 0 221 41 15.6489 SLITRK3 0 genome.wustl.edu 37 3 164905717 164905717 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 164905717 164905717 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.2902 p.E968K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 125 0 0 247 33 11.7857 ACTRT3 0 genome.wustl.edu 37 3 169486125 169486125 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 169486125 169486125 G A SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known missense c.214 p.R72C 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 58 0 0 74 12 13.9535 SEC62 0 genome.wustl.edu 37 3 169710494 169710494 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 169710494 169710494 G A SNP SEC62 ENST00000337002 human ensembl 74_37 +1 known silent c.843 p.L281 1.000 pfam_Sec62 pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 95 0 0 156 29 15.6757 SEC62 0 genome.wustl.edu 37 3 169710750 169710750 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 169710750 169710750 A G SNP SEC62 ENST00000337002 human ensembl 74_37 +1 known missense c.1099 p.T367A 1.000 NULL pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 29 0 0 57 10 14.9254 ECT2 0 genome.wustl.edu 37 3 172525679 172525679 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 172525679 172525679 C T SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known nonsense c.2272 p.R758* 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 43 0 0 82 21 20.3883 EIF2B5 0 genome.wustl.edu 37 3 183858392 183858392 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 183858392 183858392 C T SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known nonsense c.1030 p.R344* 1.000 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 167 0 0 155 29 15.7609 FETUB 0 genome.wustl.edu 37 3 186362568 186362568 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 186362568 186362568 C T SNP FETUB ENST00000265029 human ensembl 74_37 +1 known silent c.453 p.C151 0.961 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 118 0 0 199 23 10.3604 RTP4 0 genome.wustl.edu 37 3 187088874 187088874 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 187088874 187088874 G T SNP RTP4 ENST00000259030 human ensembl 74_37 +1 known missense c.454 p.A152S 0.000 NULL NULL - no_errors RTP4 HGNC ENSG00000136514 46 0 0 66 14 17.5 BCL6 0 genome.wustl.edu 37 3 187447070 187447070 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 187447070 187447070 A G SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.1123 p.W375R 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 399 1 0.25 471 87 15.5914 TP63 0 genome.wustl.edu 37 3 189608582 189608582 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 189608582 189608582 T A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1657 p.L553I 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 33 0 0 47 7 12.963 LSG1 0 genome.wustl.edu 37 3 194366918 194366918 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 194366918 194366918 C T SNP LSG1 ENST00000265245 human ensembl 74_37 -1 known missense c.1598 p.R533H 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 192 0 0 199 39 16.3866 KCNH8 0 genome.wustl.edu 37 3 19575103 19575103 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 19575103 19575103 C G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2836 p.Q946E 0.950 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 75 0 0 97 20 17.094 KCNH8 0 genome.wustl.edu 37 3 19575113 19575113 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 19575113 19575113 T G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2846 p.L949R 0.994 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 79 0 0 109 19 14.8438 CRBN 0 genome.wustl.edu 37 3 3195744 3195744 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 3195744 3195744 A G SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.851 p.V284A 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 49 0 0 67 6 8.21918 VILL 0 genome.wustl.edu 37 3 38035424 38035424 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38035424 38035424 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.96 p.Y32 0.996 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 147 0 0 148 37 20 DLEC1 0 genome.wustl.edu 37 3 38149177 38149177 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38149177 38149177 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.2967 p.T989 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 66 0 0 62 10 13.8889 ACAA1 0 genome.wustl.edu 37 3 38173437 38173437 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38173437 38173437 T C SNP ACAA1 ENST00000333167 human ensembl 74_37 -1 known missense c.383 p.Q128R 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_ACP_syn_III_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA1 HGNC ENSG00000060971 57 0 0 71 10 12.3457 MYD88 0 genome.wustl.edu 37 3 38181390 38181390 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38181390 38181390 C G SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known missense c.403 p.Q135E 0.969 superfamily_DEATH-like_dom,pirsf_Myelin_different_resp_MyD88 pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 62 0 0 87 10 10.3093 SCN10A 0 genome.wustl.edu 37 3 38739984 38739984 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38739984 38739984 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4727 p.R1576H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 124 0 0 163 30 15.544 XIRP1 0 genome.wustl.edu 37 3 39230627 39230627 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 39230627 39230627 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.310 p.D104N 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 82 0 0 100 15 13.0435 ZNF620 0 genome.wustl.edu 37 3 40557736 40557736 + Nonsense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 40557736 40557736 T A SNP ZNF620 ENST00000314529 human ensembl 74_37 +1 known nonsense c.651 p.C217* 0.648 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 72 0 0 109 22 16.7939 ZBTB47 0 genome.wustl.edu 37 3 42701038 42701038 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 42701038 42701038 G A SNP ZBTB47 ENST00000232974 human ensembl 74_37 +1 known silent c.1191 p.G397 0.997 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 29 0 0 28 9 24.3243 SNRK 0 genome.wustl.edu 37 3 43389492 43389492 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 43389492 43389492 G A SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.1741 p.G581R 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 89 0 0 95 29 23.3871 KIF15 0 genome.wustl.edu 37 3 44893381 44893381 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 44893381 44893381 G T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.3909 p.Q1303H 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 KIF15 HGNC ENSG00000163808 110 0 0 132 33 20 CCR5 0 genome.wustl.edu 37 3 46415362 46415362 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 46415362 46415362 C T SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known silent c.969 p.C323 0.001 prints_Chemokine_CCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 160 0 0 152 37 19.5767 PRSS50 0 genome.wustl.edu 37 3 46754421 46754421 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 46754421 46754421 C T SNP PRSS50 ENST00000315170 human ensembl 74_37 -1 known silent c.891 p.A297 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 180 0 0 216 40 15.625 PRSS42 0 genome.wustl.edu 37 3 46871956 46871956 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 46871956 46871956 C T SNP PRSS42 ENST00000429665 human ensembl 74_37 -1 known missense c.820 p.E274K 0.013 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS42 HGNC ENSG00000178055 20 0 0 25 10 28.5714 MYL3 0 genome.wustl.edu 37 3 46901099 46901099 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 46901099 46901099 G T SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known missense c.347 p.P116H 1.000 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 152 0 0 181 35 16.2037 ITPR1 0 genome.wustl.edu 37 3 4747965 4747965 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 4747965 4747965 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.4727 p.R1576H 0.925 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 66 0 0 63 13 17.1053 ELP6 0 genome.wustl.edu 37 3 47537654 47537654 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 47537654 47537654 C T SNP ELP6 ENST00000296149 human ensembl 74_37 -1 known missense c.706 p.A236T 0.005 pfam_UPF0405 pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 66 0 0 80 14 14.8936 CELSR3 0 genome.wustl.edu 37 3 48699463 48699463 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 48699463 48699463 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.605 p.A202V 0.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 218 0 0 235 48 16.9611 AMT 0 genome.wustl.edu 37 3 49459831 49459831 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 49459831 49459831 A G SNP AMT ENST00000273588 human ensembl 74_37 -1 known missense c.53 p.F18S 0.000 pirsf_GcvT pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT - no_errors AMT HGNC ENSG00000145020 50 0 0 59 10 14.4928 MON1A 0 genome.wustl.edu 37 3 49947673 49947673 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 49947673 49947673 G A SNP MON1A ENST00000296473 human ensembl 74_37 -1 known missense c.1549 p.R517C 1.000 pfam_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 80 0 0 67 12 15.1899 SPCS1 0 genome.wustl.edu 37 3 52740186 52740186 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 52740186 52740186 T G SNP SPCS1 ENST00000233025 human ensembl 74_37 +1 known missense c.125 p.L42R 0.000 NULL pfam_SPC12 - no_errors SPCS1 HGNC ENSG00000114902 8 0 0 5 11 68.75 SPCS1 0 genome.wustl.edu 37 3 52741730 52741730 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 52741730 52741730 C T SNP SPCS1 ENST00000233025 human ensembl 74_37 +1 known missense c.412 p.R138C 1.000 pfam_SPC12 pfam_SPC12 - no_errors SPCS1 HGNC ENSG00000114902 138 0 0 180 37 17.0507 SFMBT1 0 genome.wustl.edu 37 3 52962274 52962274 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 52962274 52962274 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known silent c.981 p.A327 0.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 123 0 0 132 34 20.4819 C3orf67 0 genome.wustl.edu 37 3 58817526 58817526 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 58817526 58817526 T G SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.1686 p.E562D 0.383 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 59 0 0 83 16 16.1616 FAM19A4 0 genome.wustl.edu 37 3 68802150 68802150 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 68802150 68802150 T G SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known missense c.150 p.Q50H 0.994 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 43 0 0 53 8 13.1148 GRM7 0 genome.wustl.edu 37 3 6903381 6903381 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 6903381 6903381 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.306 p.G102 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 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 59 0 0 46 10 17.8571 TMF1 0 genome.wustl.edu 37 3 69077434 69077434 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 69077434 69077434 T A SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.2616 p.E872D 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 30 0 0 53 6 10.1695 LMOD3 0 genome.wustl.edu 37 3 69168250 69168250 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 69168250 69168250 A G SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known missense c.1256 p.M419T 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 106 0 0 93 26 21.8487 GPR27 0 genome.wustl.edu 37 3 71804103 71804103 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 71804103 71804103 C T SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known silent c.903 p.V301 0.813 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 58 0 0 47 11 18.9655 GRM7 0 genome.wustl.edu 37 3 7620324 7620324 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 7620324 7620324 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.1731 p.Q577 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 128 0 0 165 24 12.6984 ROBO2 0 genome.wustl.edu 37 3 77147246 77147246 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 77147246 77147246 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.143 p.T48M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 46 0 0 47 8 14.5455 OXTR 0 genome.wustl.edu 37 3 8809146 8809146 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 8809146 8809146 G A SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.728 p.A243V 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM 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 34 0 0 27 4 12.9032 MTHFD2P1 0 genome.wustl.edu 37 3 95374406 95374406 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 95374406 95374406 T C SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 61 0 0 110 15 12 MINA 0 genome.wustl.edu 37 3 97686125 97686125 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 97686125 97686125 A G SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.313 p.C105R 0.989 pfam_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 332 0 0 487 71 12.724 OR5H1 0 genome.wustl.edu 37 3 97852335 97852335 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 97852335 97852335 C T SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.794 p.P265L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 86 0 0 129 23 15.1316 RPUSD3 0 genome.wustl.edu 37 3 9883494 9883494 + RNA SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 9883494 9883494 A G SNP RPUSD3 ENST00000485705 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RPUSD3 HGNC ENSG00000156990 14 0 0 10 4 28.5714 FILIP1L 0 genome.wustl.edu 37 3 99569707 99569707 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 99569707 99569707 A G SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known silent c.813 p.H271 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 239 0 0 317 64 16.7979 COL25A1 0 genome.wustl.edu 37 4 110223091 110223091 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 110223091 110223091 G A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.85 p.R29W 0.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 120 0 0 107 19 15.0794 ANK2 0 genome.wustl.edu 37 4 114161659 114161659 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 114161659 114161659 C A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.712 p.H238N 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_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 ANK2 HGNC ENSG00000145362 79 0 0 114 17 12.9771 ANK2 0 genome.wustl.edu 37 4 114274836 114274836 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 114274836 114274836 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known nonsense c.5062 p.Q1688* 0.001 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 ANK2 HGNC ENSG00000145362 126 0 0 116 13 10.0775 NDNF 0 genome.wustl.edu 37 4 121958509 121958509 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 121958509 121958509 T C SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.617 p.K206R 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 162 0 0 191 44 18.7234 QRFPR 0 genome.wustl.edu 37 4 122254150 122254150 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 122254150 122254150 G T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.623 p.P208H 0.977 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,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 97 0 0 127 24 15.894 PCDH10 0 genome.wustl.edu 37 4 134072535 134072535 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 134072535 134072535 A C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1240 p.T414P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 303 0 0 288 42 12.7273 PCDH10 0 genome.wustl.edu 37 4 134072536 134072536 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 134072536 134072536 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1241 p.T414N 0.998 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 PCDH10 HGNC ENSG00000138650 306 0 0 292 43 12.8358 MMAA 0 genome.wustl.edu 37 4 146563587 146563587 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 146563587 146563587 G A SNP MMAA ENST00000281317 human ensembl 74_37 +1 known missense c.512 p.G171E 1.000 pfam_ArgK,pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase,tigrfam_ArgK pfam_ArgK,pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 188 0 0 298 48 13.8728 SFRP2 0 genome.wustl.edu 37 4 154702668 154702668 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 154702668 154702668 G A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known missense c.823 p.R275W 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 91 0 0 81 15 15.625 NPY2R 0 genome.wustl.edu 37 4 156135999 156135999 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 156135999 156135999 A G SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.908 p.Y303C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_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 60 0 0 58 12 17.1429 TLL1 0 genome.wustl.edu 37 4 166910643 166910643 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 166910643 166910643 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.280 p.G94C 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 76 0 0 87 24 21.6216 CLCN3 0 genome.wustl.edu 37 4 170618478 170618478 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 170618478 170618478 T C SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.1156 p.Y386H 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 136 0 0 170 52 23.4234 POLN 0 genome.wustl.edu 37 4 2172859 2172859 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 2172859 2172859 C T SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.1424 p.R475Q 0.980 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 51 0 0 123 20 13.986 CCKAR 0 genome.wustl.edu 37 4 26491091 26491091 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 26491091 26491091 A G SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.128 p.V43A 1.000 pfam_CholecystokininA_recpt_N,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 123 0 0 109 24 18.0451 NSG1 0 genome.wustl.edu 37 4 4389450 4389450 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 4389450 4389450 G A SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.94 p.D32N 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 117 0 0 130 14 9.72222 ATP10D 0 genome.wustl.edu 37 4 47559905 47559905 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 47559905 47559905 C T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.2049 p.P683 0.000 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 119 1 0.833333 100 20 16.6667 KDR 0 genome.wustl.edu 37 4 55981455 55981455 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 55981455 55981455 A C SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.482 p.L161R 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 36 0 0 65 10 13.3333 CLOCK 0 genome.wustl.edu 37 4 56336882 56336882 + Splice_Site SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 56336882 56336882 A G SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known splice_site c.438+2 e5+2 1.000 - - - no_errors CLOCK HGNC ENSG00000134852 60 0 0 84 14 14.2857 HOPX 0 genome.wustl.edu 37 4 57522176 57522176 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 57522176 57522176 G A SNP HOPX ENST00000554144 human ensembl 74_37 -1 known silent c.45 p.R15 0.969 NULL superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 17 0 0 22 5 18.5185 MAN2B2 0 genome.wustl.edu 37 4 6596373 6596373 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 6596373 6596373 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.971 p.T324M 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 MAN2B2 HGNC ENSG00000013288 50 0 0 50 10 16.6667 TMPRSS11D 0 genome.wustl.edu 37 4 68699069 68699069 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 68699069 68699069 A G SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.545 p.L182S 0.855 pirsf_Pept_S1A_HAT/DESC1,superfamily_Trypsin-like_Pept_dom pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 217 0 0 250 44 14.966 UGT2B28 0 genome.wustl.edu 37 4 70152481 70152481 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 70152481 70152481 A G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known silent c.882 p.E294 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 229 0 0 355 21 5.58511 AMBN 0 genome.wustl.edu 37 4 71467311 71467311 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 71467311 71467311 A G SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.471 p.E157 0.022 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 133 0 0 148 28 15.9091 IGJ 0 genome.wustl.edu 37 4 71532173 71532173 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 71532173 71532173 G A SNP IGJ ENST00000543780 human ensembl 74_37 -1 known missense c.35 p.A12V 0.974 NULL NULL - no_errors IGJ HGNC ENSG00000132465 49 0 0 90 12 11.7647 CCDC158 0 genome.wustl.edu 37 4 77292635 77292635 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 77292635 77292635 G A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.1084 p.R362W 0.991 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 39 0 0 62 16 20.5128 SHROOM3 0 genome.wustl.edu 37 4 77692019 77692019 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 77692019 77692019 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5590 p.G1864S 0.499 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 166 0 0 152 33 17.8378 PRDM8 0 genome.wustl.edu 37 4 81124621 81124621 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 81124621 81124621 C A SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.2005 p.P669T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 34 0 0 39 6 13.3333 SH3TC1 0 genome.wustl.edu 37 4 8229061 8229061 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 8229061 8229061 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1640 p.R547Q 1.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 36 0 0 26 9 25.7143 AFF1 0 genome.wustl.edu 37 4 87968052 87968052 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 87968052 87968052 C A SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.365 p.S122Y 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 106 0 0 116 25 17.7305 GAK 0 genome.wustl.edu 37 4 887712 887712 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 887712 887712 T C SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.827 p.Y276C 0.996 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_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 48 0 0 61 6 8.95522 ABCG2 0 genome.wustl.edu 37 4 89020553 89020553 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 89020553 89020553 C T SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.1415 p.G472E 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 63 0 0 98 23 19.0083 TMEM175 0 genome.wustl.edu 37 4 946218 946218 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 946218 946218 A G SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.442 p.I148V 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 198 0 0 200 48 19.3548 SLC12A7 0 genome.wustl.edu 37 5 1076887 1076887 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 1076887 1076887 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1670 p.A557V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 104 0 0 113 21 15.6716 FER 0 genome.wustl.edu 37 5 108523207 108523207 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 108523207 108523207 A G SNP FER ENST00000281092 human ensembl 74_37 +1 known silent c.2400 p.K800 0.378 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 53 0 0 83 9 9.78261 APC 0 genome.wustl.edu 37 5 112178211 112178211 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 112178211 112178211 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.6920 p.S2307L 0.994 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 96 0 0 99 21 17.5 DMXL1 0 genome.wustl.edu 37 5 118556667 118556667 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 118556667 118556667 A G SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.8168 p.D2723G 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 48 0 0 73 13 15.1163 TERT 0 genome.wustl.edu 37 5 1294623 1294623 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 1294623 1294623 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.378 p.T126 0.014 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 21 0 0 24 5 17.2414 RAPGEF6 0 genome.wustl.edu 37 5 130939000 130939000 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 130939000 130939000 C A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.161 p.R54L 1.000 superfamily_cNMP-bd-like pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 67 0 0 128 18 12.3288 PDLIM4 0 genome.wustl.edu 37 5 131607542 131607542 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 131607542 131607542 C T SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known silent c.729 p.G243 0.013 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 46 0 0 44 13 22.807 C5orf15 0 genome.wustl.edu 37 5 133304225 133304225 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 133304225 133304225 C T SNP C5orf15 ENST00000231512 human ensembl 74_37 -1 known silent c.51 p.L17 0.049 NULL NULL - no_errors C5orf15 HGNC ENSG00000113583 28 0 0 20 4 16.6667 DNAH5 0 genome.wustl.edu 37 5 13754314 13754314 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 13754314 13754314 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10553 p.V3518A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 119 0 0 246 27 9.89011 MATR3 0 genome.wustl.edu 37 5 138650379 138650379 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 138650379 138650379 A G SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.928 p.I310V 1.000 smart_Znf_U1 smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 54 0 0 89 20 18.3486 NRG2 0 genome.wustl.edu 37 5 139231224 139231224 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 139231224 139231224 G A SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known silent c.1743 p.S581 0.378 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 128 0 0 116 25 17.7305 APBB3 0 genome.wustl.edu 37 5 139942072 139942072 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 139942072 139942072 G A SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.364 p.R122C 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 326 1 0.30581 303 46 13.1805 HARS 0 genome.wustl.edu 37 5 140056256 140056256 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140056256 140056256 C T SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.1177 p.V393M 0.978 pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 242 0 0 263 38 12.6246 PCDHA9 0 genome.wustl.edu 37 5 140229932 140229932 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140229932 140229932 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1852 p.A618T 0.007 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 PCDHA9 HGNC ENSG00000204961 193 0 0 157 37 19.0722 PCDHAC2 0 genome.wustl.edu 37 5 140348878 140348878 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140348878 140348878 C A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.2527 p.L843M 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 53 0 0 57 13 18.5714 PCDHB7 0 genome.wustl.edu 37 5 140553092 140553092 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140553092 140553092 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.676 p.A226T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 113 0 0 93 19 16.9643 PCDHB11 0 genome.wustl.edu 37 5 140581696 140581696 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140581696 140581696 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2349 p.S783 0.007 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 57 0 0 74 18 19.5652 PCDHB14 0 genome.wustl.edu 37 5 140605247 140605247 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140605247 140605247 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2170 p.R724C 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 254 1 0.392157 312 50 13.8122 PCDHB18 0 genome.wustl.edu 37 5 140616129 140616129 + RNA SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140616129 140616129 A G SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 135 1 0.735294 104 21 16.8 PCDHGA2 0 genome.wustl.edu 37 5 140720764 140720764 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140720764 140720764 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2226 p.G742 0.111 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 181 0 0 177 43 19.5455 PCDHGA10 0 genome.wustl.edu 37 5 140794641 140794641 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140794641 140794641 G A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.1899 p.A633 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 214 0 0 164 30 15.4639 TRIO 0 genome.wustl.edu 37 5 14507244 14507244 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 14507244 14507244 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.8626 p.R2876C 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 62 0 0 49 30 37.9747 ABLIM3 0 genome.wustl.edu 37 5 148619447 148619447 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 148619447 148619447 C T SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known silent c.1200 p.R400 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 131 0 0 149 19 11.3095 ARSI 0 genome.wustl.edu 37 5 149681757 149681757 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 149681757 149681757 G A SNP ARSI ENST00000328668 human ensembl 74_37 -1 known silent c.180 p.H60 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 51 0 0 62 14 18.4211 ZNF300 0 genome.wustl.edu 37 5 150276528 150276528 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 150276528 150276528 C T SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known silent c.321 p.K107 0.993 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 ZNF300 HGNC ENSG00000145908 36 0 0 46 6 11.5385 HAVCR1 0 genome.wustl.edu 37 5 156479604 156479604 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 156479604 156479604 G T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.441 p.S147R 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 494 1 0.20202 564 95 14.4158 CYFIP2 0 genome.wustl.edu 37 5 156721849 156721849 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 156721849 156721849 T G SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.265 p.C89G 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 54 0 0 58 8 12.1212 IL12B 0 genome.wustl.edu 37 5 158749469 158749469 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 158749469 158749469 G A SNP IL12B ENST00000231228 human ensembl 74_37 -1 known missense c.415 p.R139C 0.366 pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,prints_IL-12_beta pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 41 0 0 72 14 16.2791 GABRG2 0 genome.wustl.edu 37 5 161495078 161495078 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 161495078 161495078 G A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.73 p.V25M 0.999 prints_GABBAg_rcpt,prints_GABBAg2_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 73 0 0 99 6 5.71429 ENSG00000188002 0 genome.wustl.edu 37 5 1632899 1632899 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 1632899 1632899 G A SNP ENSG00000188002 ENST00000507290 human ensembl 74_37 -1 known rna NULL NULL 0.065 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188002 57 0 0 90 9 9.09091 NSD1 0 genome.wustl.edu 37 5 176721436 176721436 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 176721436 176721436 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7067 p.T2356M 0.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 81 0 0 79 10 11.236 NSD1 0 genome.wustl.edu 37 5 176721771 176721771 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 176721771 176721771 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7402 p.R2468W 0.006 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 71 0 0 84 11 11.5789 PFN3 0 genome.wustl.edu 37 5 176827207 176827207 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 176827207 176827207 G A SNP PFN3 ENST00000358571 human ensembl 74_37 -1 known missense c.371 p.T124M 0.080 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates - no_errors PFN3 HGNC ENSG00000196570 57 0 0 63 12 16 GRK6 0 genome.wustl.edu 37 5 176868759 176868759 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 176868759 176868759 G A SNP GRK6 ENST00000355472 human ensembl 74_37 +1 known missense c.1699 p.D567N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 93 0 0 137 22 13.8365 RASGEF1C 0 genome.wustl.edu 37 5 179545688 179545688 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 179545688 179545688 G A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1004 p.T335M 0.984 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_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 106 0 0 113 22 16.2963 RASGEF1C 0 genome.wustl.edu 37 5 179563481 179563481 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 179563481 179563481 T C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.335 p.Q112R 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 10 0 0 12 3 20 FLT4 0 genome.wustl.edu 37 5 180048230 180048230 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 180048230 180048230 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.2043 p.T681 0.987 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 64 0 0 88 9 9.27835 PRDM9 0 genome.wustl.edu 37 5 23521189 23521189 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 23521189 23521189 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.409 p.A137T 0.000 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 74 0 0 94 43 31.3869 TARS 0 genome.wustl.edu 37 5 33459936 33459936 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 33459936 33459936 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.1220 p.A407V 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 121 0 0 102 66 39.2857 TTC23L 0 genome.wustl.edu 37 5 34867166 34867166 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 34867166 34867166 T G SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.832 p.L278V 0.981 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 25 0 0 28 6 17.6471 IRX1 0 genome.wustl.edu 37 5 3599882 3599882 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 3599882 3599882 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.820 p.V274I 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 30 0 0 23 3 11.5385 NUP155 0 genome.wustl.edu 37 5 37294516 37294516 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 37294516 37294516 A G SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.3845 p.V1282A 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 29 0 0 74 7 8.64198 LIFR 0 genome.wustl.edu 37 5 38502900 38502900 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 38502900 38502900 C T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1439 p.R480Q 0.992 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 16 0 0 22 7 24.1379 OXCT1 0 genome.wustl.edu 37 5 41807470 41807470 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 41807470 41807470 C T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.803 p.R268H 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 50 0 0 88 8 8.33333 ZNF131 0 genome.wustl.edu 37 5 43161649 43161649 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 43161649 43161649 G T SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.670 p.G224C 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 55 0 0 111 16 12.5984 SLC9A3 0 genome.wustl.edu 37 5 482225 482225 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 482225 482225 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.1404 p.S468 0.329 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 28 0 0 44 7 13.7255 ADAMTS16 0 genome.wustl.edu 37 5 5239385 5239385 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 5239385 5239385 A G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2276 p.N759S 1.000 pfam_ADAM_spacer1 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 138 0 0 178 22 11 SNX18 0 genome.wustl.edu 37 5 53814787 53814787 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 53814787 53814787 G A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.1005 p.L335 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 62 0 0 57 9 13.6364 SGTB 0 genome.wustl.edu 37 5 65016588 65016588 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 65016588 65016588 C T SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.47 p.R16Q 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 51 0 0 83 13 13.5417 CMYA5 0 genome.wustl.edu 37 5 79025878 79025878 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 79025878 79025878 T G SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.1290 p.A430 0.006 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 118 0 0 84 18 17.6471 CMYA5 0 genome.wustl.edu 37 5 79027433 79027433 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 79027433 79027433 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2845 p.S949P 0.994 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 62 0 0 104 24 18.75 CMYA5 0 genome.wustl.edu 37 5 79029547 79029547 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 79029547 79029547 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.4959 p.G1653 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 85 0 0 99 16 13.913 EDIL3 0 genome.wustl.edu 37 5 83239319 83239319 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 83239319 83239319 T C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.1362 p.R454 0.983 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_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 73 0 0 93 20 17.6991 ZDHHC11 0 genome.wustl.edu 37 5 850499 850499 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 850499 850499 G A SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known silent c.219 p.Y73 0.004 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 44 0 0 48 27 36 TMEM161B 0 genome.wustl.edu 37 5 87493585 87493585 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 87493585 87493585 G A SNP TMEM161B ENST00000515293 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TMEM161B HGNC ENSG00000164180 71 0 0 90 17 15.8879 SEMA5A 0 genome.wustl.edu 37 5 9066627 9066627 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 9066627 9066627 G T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2205 p.A735 0.992 NULL 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 164 0 0 245 30 10.9091 ERAP2 0 genome.wustl.edu 37 5 96232522 96232522 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 96232522 96232522 C T SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known silent c.1458 p.S486 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 73 0 0 120 17 12.4088 ZNF259P1 0 genome.wustl.edu 37 6 109107993 109107993 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 109107993 109107993 C T SNP ZNF259P1 ENST00000572422 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors ZNF259P1 HGNC ENSG00000219565 72 0 0 95 16 14.4144 ELOVL2 0 genome.wustl.edu 37 6 10990652 10990652 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 10990652 10990652 T C SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.529 p.S177G 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 54 0 0 100 8 7.40741 GPR6 0 genome.wustl.edu 37 6 110301082 110301082 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 110301082 110301082 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.812 p.A271V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 67 0 0 70 9 11.3924 KIAA1919 0 genome.wustl.edu 37 6 111588192 111588192 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 111588192 111588192 C T SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.1427 p.T476M 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 84 0 0 135 21 13.4615 REV3L 0 genome.wustl.edu 37 6 111672877 111672877 + Splice_Site SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 111672877 111672877 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known splice_site c.7300+2 e19+2 1.000 - - - no_errors REV3L HGNC ENSG00000009413 25 0 0 50 5 9.09091 COL10A1 0 genome.wustl.edu 37 6 116442885 116442885 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 116442885 116442885 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.394 p.A132T 0.983 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 49 0 0 53 8 13.1148 RSPH4A 0 genome.wustl.edu 37 6 116943975 116943975 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 116943975 116943975 G A SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.731 p.R244H 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 67 0 0 127 17 11.8056 ZUFSP 0 genome.wustl.edu 37 6 116968721 116968721 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 116968721 116968721 G A SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known missense c.1369 p.R457C 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 51 0 0 64 14 17.9487 BCLAF1 0 genome.wustl.edu 37 6 136599103 136599103 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 136599103 136599103 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.916 p.A306T 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 88 0 0 118 12 9.23077 NMBR 0 genome.wustl.edu 37 6 142409697 142409697 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 142409697 142409697 C T SNP NMBR ENST00000258042 human ensembl 74_37 -1 known silent c.99 p.S33 0.001 prints_NeuroB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 57 0 0 47 8 14.5455 PLEKHG1 0 genome.wustl.edu 37 6 151116993 151116993 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 151116993 151116993 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.584 p.S195N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 91 0 0 136 25 15.528 CCDC170 0 genome.wustl.edu 37 6 151939223 151939223 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 151939223 151939223 A G SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.2110 p.K704E 0.995 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 95 0 0 79 26 24.7619 SYNE1 0 genome.wustl.edu 37 6 152655285 152655285 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 152655285 152655285 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12652 p.W4218G 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 165 0 0 255 47 15.5629 MTRF1L 0 genome.wustl.edu 37 6 153311082 153311082 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 153311082 153311082 T C SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known missense c.1091 p.K364R 0.998 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 60 0 0 118 11 8.52713 SYNJ2 0 genome.wustl.edu 37 6 158487477 158487477 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 158487477 158487477 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.1527 p.V509 1.000 superfamily_Endo/exonuclease/phosphatase pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 86 0 0 87 13 13 TULP4 0 genome.wustl.edu 37 6 158925097 158925097 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 158925097 158925097 G T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.4402 p.A1468S 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 27 0 0 12 5 29.4118 TMEM181 0 genome.wustl.edu 37 6 159028323 159028323 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 159028323 159028323 C T SNP TMEM181 ENST00000367090 human ensembl 74_37 +1 known silent c.1032 p.G344 1.000 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 56 0 0 84 14 14.2857 SLC22A3 0 genome.wustl.edu 37 6 160831880 160831880 + Splice_Site SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 160831880 160831880 T C SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known splice_site c.975+2 e5+2 0.997 - - - no_errors SLC22A3 HGNC ENSG00000146477 32 0 0 36 7 16.2791 MAP3K4 0 genome.wustl.edu 37 6 161470750 161470750 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 161470750 161470750 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.1446 p.F482 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 113 0 0 119 22 15.6028 GPLD1 0 genome.wustl.edu 37 6 24437410 24437410 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 24437410 24437410 T G SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.2128 p.S710R 1.000 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 149 0 0 136 22 13.9241 GPLD1 0 genome.wustl.edu 37 6 24445781 24445781 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 24445781 24445781 A G SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known silent c.2013 p.P671 0.025 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 50 0 0 69 15 17.8571 BTN3A2 0 genome.wustl.edu 37 6 26370798 26370798 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 26370798 26370798 G A SNP BTN3A2 ENST00000356386 human ensembl 74_37 +1 known missense c.682 p.G228S 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors BTN3A2 HGNC ENSG00000186470 179 0 0 152 43 22.0513 HLA-L 0 genome.wustl.edu 37 6 30227640 30227640 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 30227640 30227640 G A SNP HLA-L ENST00000482052 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-L HGNC ENSG00000243753 43 0 0 24 4 14.2857 VARS2 0 genome.wustl.edu 37 6 30883933 30883933 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 30883933 30883933 T C SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.668 p.V223A 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Valyl-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_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 97 0 0 110 17 13.3858 NELFE 0 genome.wustl.edu 37 6 31922410 31922410 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 31922410 31922410 G A SNP NELFE ENST00000375429 human ensembl 74_37 -1 known missense c.664 p.R222W 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 43 0 0 35 7 16.6667 PBX2 0 genome.wustl.edu 37 6 32157508 32157508 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 32157508 32157508 G A SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.185 p.T62I 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 61 0 0 75 19 20.2128 B3GALT4 0 genome.wustl.edu 37 6 33245588 33245588 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 33245588 33245588 A G SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.392 p.E131G 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 178 0 0 190 32 14.4144 SYNGAP1 0 genome.wustl.edu 37 6 33409508 33409508 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 33409508 33409508 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known nonsense c.2266 p.Q756* 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 69 0 0 66 14 17.5 PPARD 0 genome.wustl.edu 37 6 35392429 35392429 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 35392429 35392429 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known silent c.951 p.L317 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_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 45 0 0 55 10 15.3846 CDKN1A 0 genome.wustl.edu 37 6 36651917 36651917 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 36651917 36651917 C T SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known silent c.141 p.C47 0.000 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 68 0 0 52 8 13.3333 KCNK5 0 genome.wustl.edu 37 6 39158873 39158873 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 39158873 39158873 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known silent c.1293 p.D431 0.044 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 62 0 0 49 11 18.3333 USP49 0 genome.wustl.edu 37 6 41774562 41774562 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 41774562 41774562 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.160 p.A54T 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 231 0 0 225 41 15.4135 CUL7 0 genome.wustl.edu 37 6 43017368 43017368 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 43017368 43017368 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.1854 p.A618 0.230 NULL 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 100 0 0 112 23 17.037 DNPH1 0 genome.wustl.edu 37 6 43194124 43194124 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 43194124 43194124 G A SNP DNPH1 ENST00000230431 human ensembl 74_37 -1 known missense c.206 p.A69V 0.667 pfam_Nucleoside_deoxyribTrfase pfam_Nucleoside_deoxyribTrfase - no_errors DNPH1 HGNC ENSG00000112667 33 0 0 34 10 22.7273 DLK2 0 genome.wustl.edu 37 6 43418891 43418891 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 43418891 43418891 T A SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.538 p.M180L 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 71 0 0 55 12 17.9104 SLC35B2 0 genome.wustl.edu 37 6 44224191 44224191 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 44224191 44224191 C T SNP SLC35B2 ENST00000393812 human ensembl 74_37 -1 known missense c.248 p.G83D 1.000 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 137 0 0 101 23 18.5484 MEP1A 0 genome.wustl.edu 37 6 46797161 46797161 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 46797161 46797161 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.997 p.R333W 0.997 pirsf_Pept_M12A_Meprin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 174 0 0 215 41 16.0156 MUT 0 genome.wustl.edu 37 6 49425419 49425419 + Missense_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 49425419 49425419 A T SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.738 p.F246L 0.995 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 33 0 0 38 8 17.3913 DEFB114 0 genome.wustl.edu 37 6 49928136 49928136 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 49928136 49928136 C T SNP DEFB114 ENST00000322066 human ensembl 74_37 -1 known missense c.79 p.D27N 0.014 NULL NULL - no_errors DEFB114 HGNC ENSG00000177684 46 0 0 76 12 13.6364 PKHD1 0 genome.wustl.edu 37 6 51612919 51612919 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 51612919 51612919 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.9495 p.V3165 0.839 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 212 0 0 308 34 9.94152 PAQR8 0 genome.wustl.edu 37 6 52268246 52268246 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 52268246 52268246 G A SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.235 p.V79I 1.000 pfam_HlyIII-related pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 122 0 0 168 11 6.14525 BMP5 0 genome.wustl.edu 37 6 55638912 55638912 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 55638912 55638912 C T SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.962 p.R321Q 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 127 0 0 144 22 13.253 KHDRBS2 0 genome.wustl.edu 37 6 62687976 62687976 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 62687976 62687976 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.478 p.V160I 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 88 0 0 111 9 7.5 HUS1B 0 genome.wustl.edu 37 6 656447 656447 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 656447 656447 C T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.498 p.R166 0.439 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 220 0 0 243 58 19.2691 EYS 0 genome.wustl.edu 37 6 66204602 66204602 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 66204602 66204602 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.702 p.N234 0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 13 0 0 15 7 31.8182 COL9A1 0 genome.wustl.edu 37 6 71009815 71009815 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 71009815 71009815 A G SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.230 p.V77A 0.863 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 51 0 0 66 9 12 OGFRL1 0 genome.wustl.edu 37 6 71998699 71998699 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 71998699 71998699 C T SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.60 p.D20 1.000 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 14 0 0 23 3 11.5385 RREB1 0 genome.wustl.edu 37 6 7230996 7230996 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 7230996 7230996 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2664 p.P888 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 90 0 0 105 19 15.3226 DSP 0 genome.wustl.edu 37 6 7559542 7559542 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 7559542 7559542 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.506 p.G169D 0.654 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 180 0 0 209 29 12.1849 IMPG1 0 genome.wustl.edu 37 6 76744488 76744488 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 76744488 76744488 T C SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known silent c.318 p.V106 0.602 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 68 0 0 86 9 9.47368 TPBG 0 genome.wustl.edu 37 6 83074849 83074849 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 83074849 83074849 G A SNP TPBG ENST00000369750 human ensembl 74_37 +1 known silent c.171 p.P57 0.020 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 29 0 0 21 7 25 DOPEY1 0 genome.wustl.edu 37 6 83847420 83847420 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 83847420 83847420 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.3659 p.S1220F 0.942 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 92 0 0 145 17 10.4938 MDN1 0 genome.wustl.edu 37 6 90405413 90405413 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 90405413 90405413 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.9682 p.G3228S 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 104 0 0 99 13 11.6071 MDN1 0 genome.wustl.edu 37 6 90442374 90442374 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 90442374 90442374 A G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4844 p.M1615T 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 123 0 0 181 22 10.8374 CASP8AP2 0 genome.wustl.edu 37 6 90575882 90575882 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 90575882 90575882 G A SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors CASP8AP2 HGNC ENSG00000118412 17 0 0 28 7 20 CASP8AP2 0 genome.wustl.edu 37 6 90575909 90575909 + RNA SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 90575909 90575909 A C SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 20 0 0 24 3 11.1111 CASP8AP2 0 genome.wustl.edu 37 6 90577011 90577011 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 90577011 90577011 T C SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 58 0 0 49 14 22.2222 GPR63 0 genome.wustl.edu 37 6 97247002 97247002 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 97247002 97247002 A G SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known silent c.606 p.S202 0.958 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_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 121 0 0 97 22 18.4874 POU3F2 0 genome.wustl.edu 37 6 99283474 99283474 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 99283474 99283474 C T SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.725 p.P242L 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_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 - no_errors POU3F2 HGNC ENSG00000184486 101 0 0 77 12 13.4831 FAXC 0 genome.wustl.edu 37 6 99797031 99797031 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 99797031 99797031 G T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.218 p.A73D 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 125 0 0 114 22 16.1765 FBXO24 0 genome.wustl.edu 37 7 100198185 100198185 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 100198185 100198185 C A SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.1520 p.A507D 1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 170 0 0 182 24 11.6505 PSMC2 0 genome.wustl.edu 37 7 103004631 103004631 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 103004631 103004631 C T SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known silent c.633 p.G211 0.921 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 75 0 0 117 20 14.5985 RELN 0 genome.wustl.edu 37 7 103290771 103290771 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 103290771 103290771 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.1952 p.R651H 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 84 0 0 114 29 20.2797 NRCAM 0 genome.wustl.edu 37 7 107838532 107838532 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 107838532 107838532 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.1219 p.D407N 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 43 0 0 50 8 13.7931 CFTR 0 genome.wustl.edu 37 7 117182086 117182086 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 117182086 117182086 A G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1133 p.Q378R 1.000 superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,tigrfam_cAMP_cl_channel 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_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 27 0 0 35 5 12.5 GRM8 0 genome.wustl.edu 37 7 126086333 126086333 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 126086333 126086333 T A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2524 p.I842F 1.000 pfscan_GPCR_3_C 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 71 0 0 104 18 14.7541 LRRC4 0 genome.wustl.edu 37 7 127669905 127669905 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 127669905 127669905 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.789 p.D263 0.994 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 93 0 0 94 14 12.963 C7orf49 0 genome.wustl.edu 37 7 134851435 134851435 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 134851435 134851435 G T SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known silent c.402 p.A134 0.003 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 109 0 0 145 32 18.0791 KIAA1549 0 genome.wustl.edu 37 7 138601984 138601984 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 138601984 138601984 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.2388 p.T796 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 52 0 0 59 13 18.0556 BRAF 0 genome.wustl.edu 37 7 140534520 140534520 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 140534520 140534520 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.393 p.L131 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 88 0 0 122 32 20.7792 TRPV6 0 genome.wustl.edu 37 7 142569632 142569632 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 142569632 142569632 A C SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.2006 p.L669R 0.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 110 0 0 95 10 9.52381 EPHA1 0 genome.wustl.edu 37 7 143094660 143094660 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 143094660 143094660 C T SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.1706 p.R569Q 0.980 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 96 0 0 113 12 9.6 OR2A7 0 genome.wustl.edu 37 7 143956655 143956655 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 143956655 143956655 G A SNP OR2A7 ENST00000493325 human ensembl 74_37 -1 known nonsense c.67 p.Q23* 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 176 0 0 216 17 7.29614 CNTNAP2 0 genome.wustl.edu 37 7 146741142 146741142 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 146741142 146741142 T C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.546 p.S182 0.942 superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf 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 100 0 0 158 50 24.0385 ZNF783 0 genome.wustl.edu 37 7 148975608 148975608 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 148975608 148975608 G A SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known silent c.792 p.G264 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 50 0 0 42 5 10.6383 ZNF746 0 genome.wustl.edu 37 7 149171850 149171850 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 149171850 149171850 C T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known silent c.1563 p.T521 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 20 0 0 16 3 15.7895 ZNF862 0 genome.wustl.edu 37 7 149561323 149561323 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 149561323 149561323 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.3460 p.E1154K 0.000 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 11 0 0 22 5 18.5185 WDR86 0 genome.wustl.edu 37 7 151082222 151082222 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 151082222 151082222 T C SNP WDR86 ENST00000469830 human ensembl 74_37 -1 putative missense c.878 p.H293R 0.112 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR86 HGNC ENSG00000187260 54 0 0 47 12 20.339 GALNT11 0 genome.wustl.edu 37 7 151791543 151791543 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 151791543 151791543 C T SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known silent c.231 p.D77 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 118 0 0 155 19 10.9195 KMT2C 0 genome.wustl.edu 37 7 152008901 152008901 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 152008901 152008901 C A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.721 p.A241S 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 67 0 0 103 21 16.9355 RBM33 0 genome.wustl.edu 37 7 155499646 155499646 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 155499646 155499646 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.832 p.R278W 0.991 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 23 0 0 28 3 9.67742 RBM33 0 genome.wustl.edu 37 7 155534589 155534589 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 155534589 155534589 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2126 p.R709H 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 223 0 0 199 41 17.0833 MNX1 0 genome.wustl.edu 37 7 156798351 156798351 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 156798351 156798351 C T SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known missense c.1069 p.E357K 0.969 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 45 0 0 49 16 24.6154 UBE3C 0 genome.wustl.edu 37 7 157046707 157046707 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 157046707 157046707 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known silent c.2754 p.A918 0.236 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 76 0 0 70 6 7.89474 MEOX2 0 genome.wustl.edu 37 7 15725539 15725539 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 15725539 15725539 G T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.489 p.S163R 0.888 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 263 0 0 301 65 17.7596 NCAPG2 0 genome.wustl.edu 37 7 158443607 158443607 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 158443607 158443607 G A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2992 p.H998Y 1.000 NULL pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 92 0 0 136 27 16.5644 NCAPG2 0 genome.wustl.edu 37 7 158447310 158447310 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 158447310 158447310 C T SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2723 p.R908Q 0.002 NULL pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 137 0 0 178 45 20.1794 TSPAN13 0 genome.wustl.edu 37 7 16817465 16817465 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 16817465 16817465 C T SNP TSPAN13 ENST00000262067 human ensembl 74_37 +1 known nonsense c.355 p.R119* 0.604 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 80 0 0 109 20 15.5039 MACC1 0 genome.wustl.edu 37 7 20199428 20199428 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 20199428 20199428 G A SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.556 p.R186C 1.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 63 0 0 85 11 11.4583 ABCB5 0 genome.wustl.edu 37 7 20782555 20782555 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 20782555 20782555 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1745 p.R582H 0.998 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 49 0 0 64 18 21.9512 NFE2L3 0 genome.wustl.edu 37 7 26224439 26224439 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 26224439 26224439 A G SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1121 p.N374S 0.663 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 109 0 0 132 30 18.5185 HOXA2 0 genome.wustl.edu 37 7 27141760 27141760 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 27141760 27141760 T G SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known silent c.360 p.A120 0.927 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 16 0 0 19 5 20.8333 HOXA6 0 genome.wustl.edu 37 7 27187001 27187001 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 27187001 27187001 A G SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known missense c.368 p.L123P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 135 0 0 145 20 12.1212 JAZF1 0 genome.wustl.edu 37 7 27880399 27880399 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 27880399 27880399 G A SNP JAZF1 ENST00000283928 human ensembl 74_37 -1 known missense c.473 p.A158V 1.000 NULL smart_Znf_C2H2-like - no_errors JAZF1 HGNC ENSG00000153814 172 0 0 196 33 14.4105 GARS 0 genome.wustl.edu 37 7 30651771 30651771 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 30651771 30651771 T G SNP GARS ENST00000389266 human ensembl 74_37 +1 known missense c.941 p.F314C 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 107 0 0 148 23 13.4503 PDE1C 0 genome.wustl.edu 37 7 31876897 31876897 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 31876897 31876897 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.1100 p.A367V 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 45 0 0 60 5 7.69231 PDE1C 0 genome.wustl.edu 37 7 31890287 31890287 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 31890287 31890287 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.819 p.T273 0.102 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 69 0 0 98 17 14.7826 RP9 0 genome.wustl.edu 37 7 33136917 33136917 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 33136917 33136917 A G SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.371 p.I124T 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 50 0 0 67 10 12.987 STARD3NL 0 genome.wustl.edu 37 7 38247159 38247159 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 38247159 38247159 C T SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known silent c.54 p.S18 0.985 NULL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 89 0 0 91 15 14.1509 VPS41 0 genome.wustl.edu 37 7 38816279 38816279 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 38816279 38816279 C T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known silent c.882 p.T294 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 30 0 0 47 3 6 POLM 0 genome.wustl.edu 37 7 44120340 44120340 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 44120340 44120340 G A SNP POLM ENST00000242248 human ensembl 74_37 -1 known missense c.364 p.R122C 0.955 superfamily_BRCT_dom,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 179 0 0 214 34 13.7097 ZMIZ2 0 genome.wustl.edu 37 7 44806229 44806229 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 44806229 44806229 T C SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.2622 p.S874 0.948 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 103 0 0 92 23 20 IGFBP1 0 genome.wustl.edu 37 7 45928308 45928308 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 45928308 45928308 G T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.57 p.Q19H 0.002 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 51 0 0 34 10 22.7273 ABCA13 0 genome.wustl.edu 37 7 48318404 48318404 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 48318404 48318404 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.7613 p.T2538K 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 173 0 0 260 48 15.5844 RADIL 0 genome.wustl.edu 37 7 4855941 4855941 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 4855941 4855941 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.1884 p.V628 0.995 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 36 0 0 39 7 15.2174 RADIL 0 genome.wustl.edu 37 7 4917581 4917581 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 4917581 4917581 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.190 p.V64I 0.961 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 38 0 0 35 7 16.6667 COBL 0 genome.wustl.edu 37 7 51096673 51096673 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 51096673 51096673 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2366 p.T789M 0.806 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 64 0 0 73 17 18.8889 POM121L12 0 genome.wustl.edu 37 7 53103605 53103605 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 53103605 53103605 C T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.241 p.R81W 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 63 0 0 53 6 10.1695 RSPH10B 0 genome.wustl.edu 37 7 5966162 5966162 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 5966162 5966162 A G SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known missense c.2450 p.L817S 0.042 NULL pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 84 0 0 74 20 21.2766 ZNF733P 0 genome.wustl.edu 37 7 62753101 62753101 + RNA SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 62753101 62753101 C A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors ZNF733P HGNC ENSG00000185037 69 0 0 111 19 14.6154 ZNF679 0 genome.wustl.edu 37 7 63726625 63726625 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 63726625 63726625 T C SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.614 p.I205T 0.496 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 ZNF679 HGNC ENSG00000197123 13 0 0 13 3 18.75 GTF2IRD1 0 genome.wustl.edu 37 7 73961459 73961459 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 73961459 73961459 G A SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.1759 p.V587I 0.987 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 151 1 0.657895 177 41 18.8073 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76633587 76633587 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 76633587 76633587 G A SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 75 0 0 57 9 13.6364 CCDC146 0 genome.wustl.edu 37 7 76922503 76922503 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 76922503 76922503 G A SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.2650 p.A884T 0.966 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 112 0 0 172 33 16.0976 MAGI2 0 genome.wustl.edu 37 7 77824201 77824201 + Nonsense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 77824201 77824201 A C SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known nonsense c.2259 p.Y753* 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 85 0 0 136 33 19.5266 HEATR2 0 genome.wustl.edu 37 7 801405 801405 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 801405 801405 C T SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.1486 p.R496C 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 18 0 0 20 3 13.0435 SEMA3A 0 genome.wustl.edu 37 7 83689835 83689835 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 83689835 83689835 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.493 p.G165S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,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 SEMA3A HGNC ENSG00000075213 114 0 0 171 28 14.0704 COL1A2 0 genome.wustl.edu 37 7 94041396 94041396 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 94041396 94041396 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.1367 p.P456L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 11 0 0 27 3 10 TRRAP 0 genome.wustl.edu 37 7 98497363 98497363 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 98497363 98497363 T C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.773 p.I258T 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 57 0 0 72 18 20 PILRA 0 genome.wustl.edu 37 7 99971837 99971837 + Nonsense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 99971837 99971837 C T SNP PILRA ENST00000198536 human ensembl 74_37 +1 known nonsense c.235 p.Q79* 0.007 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PILRA HGNC ENSG00000085514 140 1 0.70922 149 29 16.2921 VPS13B 0 genome.wustl.edu 37 8 100791069 100791069 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 100791069 100791069 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7664 p.K2555R 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 78 0 0 124 29 18.9542 KLF10 0 genome.wustl.edu 37 8 103662532 103662532 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 103662532 103662532 G A SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known missense c.1271 p.T424M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 112 0 0 149 31 17.2222 DCAF13 0 genome.wustl.edu 37 8 104427576 104427576 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 104427576 104427576 A C SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.358 p.S120R 1.000 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 142 0 0 102 15 12.8205 PINX1 0 genome.wustl.edu 37 8 10623283 10623283 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 10623283 10623283 C T SNP PINX1 ENST00000314787 human ensembl 74_37 -1 known silent c.615 p.T205 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 293 0 0 370 64 14.7465 OXR1 0 genome.wustl.edu 37 8 107691458 107691458 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 107691458 107691458 C A SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.244 p.L82I 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 81 0 0 101 19 15.8333 PKHD1L1 0 genome.wustl.edu 37 8 110456122 110456122 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 110456122 110456122 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.4782 p.W1594C 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT 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 73 0 0 99 22 18.1818 CTSB 0 genome.wustl.edu 37 8 11710150 11710150 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 11710150 11710150 T C SNP CTSB ENST00000345125 human ensembl 74_37 -1 known missense c.181 p.T61A 0.690 pfam_Propeptide_C1A pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC ENSG00000164733 51 0 0 53 7 11.6667 TNFRSF11B 0 genome.wustl.edu 37 8 119938851 119938851 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 119938851 119938851 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.699 p.N233 0.025 pirsf_TNFR_11B,superfamily_DEATH-like_dom pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 66 0 0 92 18 16.3636 LRRC6 0 genome.wustl.edu 37 8 133673853 133673853 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 133673853 133673853 G A SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.31 p.R11W 0.990 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 42 0 0 52 7 11.8644 DENND3 0 genome.wustl.edu 37 8 142190927 142190927 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 142190927 142190927 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.2678 p.A893V 0.888 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 94 0 0 86 16 15.6863 ZNF696 0 genome.wustl.edu 37 8 144378753 144378753 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 144378753 144378753 G A SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known missense c.908 p.S303N 0.569 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 31 0 0 24 6 20 RHPN1 0 genome.wustl.edu 37 8 144458725 144458725 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 144458725 144458725 G T SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known silent c.207 p.T69 0.747 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 32 0 0 32 7 17.9487 PLEC 0 genome.wustl.edu 37 8 144991783 144991783 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 144991783 144991783 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.12617 p.R4206H 0.999 pfam_Plectin_repeat,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 106 0 0 86 16 15.6863 PLEC 0 genome.wustl.edu 37 8 144991811 144991811 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 144991811 144991811 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.12589 p.R4197W 1.000 pfam_Plectin_repeat,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 90 0 0 80 15 15.7895 SPATC1 0 genome.wustl.edu 37 8 145095791 145095791 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145095791 145095791 T C SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.1089 p.H363 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 81 0 0 67 15 18.2927 OPLAH 0 genome.wustl.edu 37 8 145108142 145108142 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145108142 145108142 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2841 p.D947 0.343 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 58 0 0 42 12 22.2222 EXOSC4 0 genome.wustl.edu 37 8 145135325 145135325 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145135325 145135325 C A SNP EXOSC4 ENST00000316052 human ensembl 74_37 +1 known missense c.559 p.L187M 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC4 HGNC ENSG00000178896 126 0 0 117 18 13.3333 SLC39A4 0 genome.wustl.edu 37 8 145641416 145641416 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145641416 145641416 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.252 p.P84 0.000 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 13 0 0 17 4 19.0476 GPT 0 genome.wustl.edu 37 8 145730035 145730035 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145730035 145730035 G A SNP GPT ENST00000394955 human ensembl 74_37 +1 known missense c.211 p.A71T 1.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 169 0 0 151 23 13.2184 MSR1 0 genome.wustl.edu 37 8 16035397 16035397 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 16035397 16035397 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.101 p.P34L 0.000 prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 30 0 0 39 10 20.4082 SH2D4A 0 genome.wustl.edu 37 8 19252128 19252128 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 19252128 19252128 C A SNP SH2D4A ENST00000265807 human ensembl 74_37 +1 known missense c.1340 p.P447H 0.342 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 96 0 0 87 14 13.8614 ZNF596 0 genome.wustl.edu 37 8 195439 195439 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 195439 195439 C T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.592 p.R198C 0.222 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 ZNF596 HGNC ENSG00000172748 70 0 0 96 14 12.7273 ZNF596 0 genome.wustl.edu 37 8 195650 195650 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 195650 195650 G A SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.803 p.R268Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF596 HGNC ENSG00000172748 75 0 0 112 18 13.8462 SLC18A1 0 genome.wustl.edu 37 8 20005154 20005154 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 20005154 20005154 G A SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known silent c.1290 p.Y430 0.987 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 66 0 0 44 10 18.5185 RHOBTB2 0 genome.wustl.edu 37 8 22865085 22865085 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 22865085 22865085 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1327 p.R443C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 161 0 0 136 25 15.528 LOXL2 0 genome.wustl.edu 37 8 23159645 23159645 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 23159645 23159645 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known silent c.2028 p.F676 0.958 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 LOXL2 HGNC ENSG00000134013 73 0 0 51 10 16.3934 NEFL 0 genome.wustl.edu 37 8 24813072 24813072 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 24813072 24813072 C T SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 69 0 0 66 18 21.4286 SDAD1P1 0 genome.wustl.edu 37 8 26238015 26238015 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 26238015 26238015 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 42 0 0 82 12 12.766 CHRNA2 0 genome.wustl.edu 37 8 27320707 27320707 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 27320707 27320707 T A SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.1253 p.E418V 0.313 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 CHRNA2 HGNC ENSG00000120903 106 0 0 113 20 15.0376 ESCO2 0 genome.wustl.edu 37 8 27657064 27657064 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 27657064 27657064 C T SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known missense c.1504 p.R502C 1.000 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 104 0 0 132 29 18.0124 GSR 0 genome.wustl.edu 37 8 30541660 30541660 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 30541660 30541660 G A SNP GSR ENST00000221130 human ensembl 74_37 -1 known silent c.1098 p.N366 0.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 177 0 0 239 51 17.5862 NRG1 0 genome.wustl.edu 37 8 32600278 32600278 + Missense_Mutation SNP C C G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 32600278 32600278 C G SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known missense c.883 p.P295A 1.000 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 249 0 0 315 44 12.2563 UNC5D 0 genome.wustl.edu 37 8 35583730 35583730 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 35583730 35583730 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1364 p.S455N 1.000 NULL 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 88 0 0 85 16 15.8416 NKX6-3 0 genome.wustl.edu 37 8 41504832 41504832 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 41504832 41504832 C T SNP NKX6-3 ENST00000524115 human ensembl 74_37 -1 known missense c.43 p.G15R 0.028 NULL superfamily_Homeodomain-like - no_errors NKX6-3 HGNC ENSG00000165066 20 0 0 22 3 12 KAT6A 0 genome.wustl.edu 37 8 41791029 41791029 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 41791029 41791029 T A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4709 p.D1570V 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 89 0 0 96 20 17.2414 SNTG1 0 genome.wustl.edu 37 8 51617256 51617256 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 51617256 51617256 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1135 p.A379T 0.160 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 63 0 0 96 16 14.2857 PXDNL 0 genome.wustl.edu 37 8 52321999 52321999 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 52321999 52321999 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2185 p.A729T 0.157 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 50 0 0 51 9 15 OPRK1 0 genome.wustl.edu 37 8 54147653 54147653 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 54147653 54147653 T G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.276 p.T92 0.218 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 97 0 0 140 14 9.09091 TCEA1 0 genome.wustl.edu 37 8 54900718 54900718 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 54900718 54900718 C T SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.422 p.R141Q 0.998 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 30 0 0 25 7 21.875 CLVS1 0 genome.wustl.edu 37 8 62371044 62371044 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 62371044 62371044 A G SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known missense c.920 p.H307R 0.991 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 35 0 0 65 15 18.75 ERICH1 0 genome.wustl.edu 37 8 623991 623991 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 623991 623991 T C SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.361 p.K121E 0.990 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 41 0 0 64 18 21.9512 BHLHE22 0 genome.wustl.edu 37 8 65494426 65494426 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 65494426 65494426 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.1079 p.P360L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 26 0 0 30 4 11.7647 ARFGEF1 0 genome.wustl.edu 37 8 68140340 68140340 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 68140340 68140340 A G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.3449 p.V1150A 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 74 0 0 103 24 18.8976 KCNB2 0 genome.wustl.edu 37 8 73480260 73480260 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 73480260 73480260 T C SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.291 p.T97 0.910 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3 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_Kv2.2,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 KCNB2 HGNC ENSG00000182674 84 0 0 104 12 10.3448 SGK223 0 genome.wustl.edu 37 8 8235193 8235193 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 8235193 8235193 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.726 p.C242 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 85 0 0 75 17 18.4783 LRRCC1 0 genome.wustl.edu 37 8 86019623 86019623 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 86019623 86019623 A C SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.93 p.K31N 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 82 0 0 100 20 16.6667 ESRP1 0 genome.wustl.edu 37 8 95658510 95658510 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 95658510 95658510 T C SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.490 p.Y164H 0.992 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 93 0 0 122 18 12.8571 ABCA1 0 genome.wustl.edu 37 9 107548643 107548643 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 107548643 107548643 T C SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.6337 p.R2113G 0.988 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 96 0 0 168 34 16.8317 PALM2-AKAP2 0 genome.wustl.edu 37 9 112918719 112918719 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 112918719 112918719 T G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.3116 p.L1039R 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 111 0 0 115 19 14.1791 C9orf91 0 genome.wustl.edu 37 9 117379467 117379467 + RNA SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 117379467 117379467 C T SNP C9orf91 ENST00000471206 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf91 HGNC ENSG00000157693 61 0 0 73 18 19.7802 TNC 0 genome.wustl.edu 37 9 117848521 117848521 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 117848521 117848521 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.1489 p.R497W 0.791 smart_EG-like_dom 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 246 0 0 207 31 13.0252 CDK5RAP2 0 genome.wustl.edu 37 9 123234112 123234112 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 123234112 123234112 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.1772 p.R591Q 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 56 0 0 91 18 16.5138 PTGS1 0 genome.wustl.edu 37 9 125154645 125154645 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 125154645 125154645 C T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.1622 p.P541L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 142 0 0 187 27 12.6168 OR1B1 0 genome.wustl.edu 37 9 125391778 125391778 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 125391778 125391778 C A SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.37 p.V13F 0.033 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 79 0 0 75 10 11.7647 NR6A1 0 genome.wustl.edu 37 9 127316774 127316774 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 127316774 127316774 C A SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.218 p.G73V 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 95 0 0 120 22 15.493 LMX1B 0 genome.wustl.edu 37 9 129377676 129377676 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 129377676 129377676 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.154 p.H52Y 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 30 0 0 38 9 19.1489 LMX1B 0 genome.wustl.edu 37 9 129377811 129377811 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 129377811 129377811 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.289 p.R97W 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 41 0 0 42 9 17.6471 ANGPTL2 0 genome.wustl.edu 37 9 129851253 129851253 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 129851253 129851253 T C SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.1447 p.M483V 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 197 0 0 174 30 14.7059 GOLGA2 0 genome.wustl.edu 37 9 131019435 131019435 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131019435 131019435 G A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2920 p.R974W 1.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 154 0 0 145 24 14.2012 GOLGA2 0 genome.wustl.edu 37 9 131020362 131020362 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131020362 131020362 G A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2324 p.A775V 0.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 59 0 0 33 8 19.5122 PKN3 0 genome.wustl.edu 37 9 131477648 131477648 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131477648 131477648 G A SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.1717 p.V573I 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 83 0 0 63 16 20.2532 DOLK 0 genome.wustl.edu 37 9 131708405 131708405 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131708405 131708405 G A SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.1178 p.S393F 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 120 0 0 109 23 17.4242 CRAT 0 genome.wustl.edu 37 9 131873368 131873368 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131873368 131873368 T C SNP CRAT ENST00000464290 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CRAT HGNC ENSG00000095321 47 0 0 42 7 14.2857 IER5L 0 genome.wustl.edu 37 9 131939119 131939119 + Nonstop_Mutation SNP A A T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131939119 131939119 A T SNP IER5L ENST00000372491 human ensembl 74_37 -1 known nonstop c.1213 p.*405K 1.000 NULL pfam_IER - no_errors IER5L HGNC ENSG00000188483 28 0 0 23 6 20.6897 PRRX2 0 genome.wustl.edu 37 9 132484621 132484621 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 132484621 132484621 C T SNP PRRX2 ENST00000372469 human ensembl 74_37 +1 known missense c.752 p.T251M 0.999 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX2 HGNC ENSG00000167157 62 0 0 51 14 21.5385 QRFP 0 genome.wustl.edu 37 9 133769184 133769184 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 133769184 133769184 C T SNP QRFP ENST00000343079 human ensembl 74_37 -1 known silent c.42 p.P14 0.845 pfam_P518 pfam_P518 - no_errors QRFP HGNC ENSG00000188710 81 0 0 123 20 13.986 POMT1 0 genome.wustl.edu 37 9 134386850 134386850 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 134386850 134386850 A G SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.1048 p.M350V 0.993 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 77 0 0 88 15 14.5631 C9orf96 0 genome.wustl.edu 37 9 136268936 136268936 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 136268936 136268936 G T SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.1587 p.W529C 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 46 0 0 59 15 20.2703 ADAMTS13 0 genome.wustl.edu 37 9 136321236 136321236 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 136321236 136321236 T C SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3614 p.M1205T 0.341 superfamily_CUB_dom pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 128 0 0 119 28 19.0476 KCNT1 0 genome.wustl.edu 37 9 138657549 138657549 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 138657549 138657549 A G SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.1280 p.Q427R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 23 0 0 29 7 19.4444 SEC16A 0 genome.wustl.edu 37 9 139354227 139354227 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 139354227 139354227 T C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.5173 p.T1725A 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 26 0 0 25 3 10.7143 SEC16A 0 genome.wustl.edu 37 9 139361486 139361486 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 139361486 139361486 G T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.3852 p.P1284 0.017 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 45 0 0 73 14 16.092 LCN12 0 genome.wustl.edu 37 9 139848433 139848433 + RNA SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 139848433 139848433 G A SNP LCN12 ENST00000466277 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LCN12 HGNC ENSG00000184925 30 0 0 25 8 24.2424 NDOR1 0 genome.wustl.edu 37 9 140108803 140108803 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 140108803 140108803 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known silent c.660 p.T220 0.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 157 0 0 132 28 17.5 PNPLA7 0 genome.wustl.edu 37 9 140379084 140379084 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 140379084 140379084 G T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2302 p.L768I 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 39 0 0 29 6 17.1429 SCARNA8 0 genome.wustl.edu 37 9 19063702 19063702 + RNA SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 19063702 19063702 G T SNP SCARNA8 ENST00000515924 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA8 HGNC ENSG00000251733 82 0 0 119 22 15.6028 SLC24A2 0 genome.wustl.edu 37 9 19576949 19576949 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 19576949 19576949 G A SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.1201 p.R401W 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 106 0 0 145 31 17.6136 MLLT3 0 genome.wustl.edu 37 9 20414331 20414331 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 20414331 20414331 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.513 p.S171 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 63 0 0 103 7 6.36364 MLLT3 0 genome.wustl.edu 37 9 20414370 20414370 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 20414370 20414370 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.474 p.S158 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 67 0 0 64 5 7.24638 LINGO2 0 genome.wustl.edu 37 9 27950348 27950348 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 27950348 27950348 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.322 p.R108C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 125 0 0 160 27 14.4385 NOL6 0 genome.wustl.edu 37 9 33466680 33466680 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 33466680 33466680 C T SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1978 p.V660I 0.996 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 114 0 0 94 7 6.93069 UBAP2 0 genome.wustl.edu 37 9 33927924 33927924 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 33927924 33927924 C T SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known missense c.2242 p.V748I 0.019 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 114 0 0 135 10 6.89655 VCP 0 genome.wustl.edu 37 9 35066769 35066769 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 35066769 35066769 C T SNP VCP ENST00000358901 human ensembl 74_37 -1 known silent c.348 p.V116 1.000 tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 103 0 0 121 24 16.5517 RECK 0 genome.wustl.edu 37 9 36122901 36122901 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 36122901 36122901 T C SNP RECK ENST00000377966 human ensembl 74_37 +1 known silent c.2775 p.P925 0.167 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 155 1 0.641026 209 43 17.0635 KIAA2026 0 genome.wustl.edu 37 9 6007371 6007371 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 6007371 6007371 C T SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.417 p.L139 1.000 superfamily_Bromodomain superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 48 0 0 33 5 13.1579 RANBP6 0 genome.wustl.edu 37 9 6014724 6014724 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 6014724 6014724 G T SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.884 p.S295Y 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 70 0 0 67 11 14.1026 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 57 0 0 105 9 7.89474 SMC5 0 genome.wustl.edu 37 9 72933542 72933542 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 72933542 72933542 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.1919 p.A640V 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 84 0 0 148 23 13.4503 C9orf41 0 genome.wustl.edu 37 9 77614759 77614759 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 77614759 77614759 T C SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known silent c.618 p.V206 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 55 0 0 107 29 21.3235 PCSK5 0 genome.wustl.edu 37 9 78790138 78790138 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 78790138 78790138 A G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.1993 p.K665E 0.037 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 32 0 0 25 6 19.3548 FOXB2 0 genome.wustl.edu 37 9 79635218 79635218 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 79635218 79635218 G A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.648 p.K216 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 15 0 0 19 4 17.3913 GNA14 0 genome.wustl.edu 37 9 80262613 80262613 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 80262613 80262613 G A SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known missense c.97 p.R33C 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 24 0 0 28 3 9.67742 TLE4 0 genome.wustl.edu 37 9 82322068 82322068 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 82322068 82322068 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.967 p.R323C 0.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 136 0 0 171 32 15.7635 RMI1 0 genome.wustl.edu 37 9 86616917 86616917 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 86616917 86616917 T G SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1016 p.L339W 0.062 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 53 0 0 68 11 13.9241 GAS1 0 genome.wustl.edu 37 9 89560907 89560907 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 89560907 89560907 T C SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known missense c.788 p.D263G 1.000 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 29 0 0 22 4 15.3846 NXNL2 0 genome.wustl.edu 37 9 91150404 91150404 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 91150404 91150404 G T SNP NXNL2 ENST00000375854 human ensembl 74_37 +1 known nonsense c.55 p.E19* 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 59 0 0 60 19 24.0506 IPPK 0 genome.wustl.edu 37 9 95420958 95420958 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 95420958 95420958 G A SNP IPPK ENST00000287996 human ensembl 74_37 -1 known silent c.87 p.C29 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 80 0 0 114 21 15.5556 WNK2 0 genome.wustl.edu 37 9 95992120 95992120 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 95992120 95992120 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.824 p.T275M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 51 0 0 55 7 11.2903 NUTM2F 0 genome.wustl.edu 37 9 97082005 97082005 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 97082005 97082005 C T SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.1375 p.A459T 0.887 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 163 0 0 167 37 18.1373 NUTM2G 0 genome.wustl.edu 37 9 99700174 99700174 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 99700174 99700174 C T SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.1331 p.A444V 0.489 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 160 0 0 187 25 11.7925 ENSG00000238643 0 genome.wustl.edu 37 GL000229.1 17387 17387 + RNA SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e GL000229.1 17387 17387 T A SNP ENSG00000238643 ENST00000459109 human ensembl 74_37 +1 novel rna NULL NULL NULL - - - no_errors CT978678.1 Clone_based_ensembl_gene ENSG00000238643 32 0 0 39 4 9.30233 NXF4 0 genome.wustl.edu 37 X 101818313 101818313 + RNA SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 101818313 101818313 A C SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NXF4 HGNC ENSG00000196970 68 0 0 64 16 20 BHLHB9 0 genome.wustl.edu 37 X 102004814 102004814 + Silent SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 102004814 102004814 T G SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known silent c.891 p.R297 0.261 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 110 0 0 125 21 14.3836 PLP1 0 genome.wustl.edu 37 X 103041611 103041611 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 103041611 103041611 C T SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known missense c.409 p.R137W 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 274 0 0 310 53 14.6006 H2BFWT 0 genome.wustl.edu 37 X 103267881 103267881 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 103267881 103267881 C T SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.352 p.A118T 0.996 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 65 0 0 74 12 13.9535 MID1 0 genome.wustl.edu 37 X 10427835 10427835 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 10427835 10427835 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.1298 p.S433L 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,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,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 184 0 0 181 26 12.5604 NRK 0 genome.wustl.edu 37 X 105152838 105152838 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 105152838 105152838 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1208 p.Q403P 0.977 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 100 0 0 110 16 12.6984 FRMPD3 0 genome.wustl.edu 37 X 106841349 106841349 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 106841349 106841349 A C SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.2339 p.H780P 0.997 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 95 0 0 86 10 10.4167 GUCY2F 0 genome.wustl.edu 37 X 108636252 108636252 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 108636252 108636252 A G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2457 p.N819 1.000 superfamily_Kinase-like_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_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 141 0 0 211 39 15.6 AMMECR1 0 genome.wustl.edu 37 X 109441848 109441848 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 109441848 109441848 T C SNP AMMECR1 ENST00000262844 human ensembl 74_37 -1 known missense c.902 p.K301R 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 50 0 0 71 17 19.3182 GLUD2 0 genome.wustl.edu 37 X 120181650 120181650 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 120181650 120181650 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.112 p.A38T 0.020 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 43 0 0 44 6 12 PRPS2 0 genome.wustl.edu 37 X 12809648 12809648 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 12809648 12809648 C T SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known missense c.32 p.S11L 1.000 tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 51 0 0 49 8 14.0351 ELF4 0 genome.wustl.edu 37 X 129201411 129201411 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 129201411 129201411 G A SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known missense c.1277 p.T426M 1.000 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 186 0 0 170 30 15 TLR8 0 genome.wustl.edu 37 X 12938574 12938574 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 12938574 12938574 G A SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.1415 p.R472H 0.000 NULL 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 TLR8 HGNC ENSG00000101916 80 0 0 122 22 15.2778 SLC25A14 0 genome.wustl.edu 37 X 129483330 129483330 + RNA SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 129483330 129483330 T C SNP SLC25A14 ENST00000467346 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 27 0 0 42 9 17.6471 MOSPD1 0 genome.wustl.edu 37 X 134025602 134025602 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 134025602 134025602 G T SNP MOSPD1 ENST00000370777 human ensembl 74_37 -1 known missense c.520 p.L174M 1.000 NULL pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom - no_errors MOSPD1 HGNC ENSG00000101928 163 0 0 170 27 13.7056 DDX26B 0 genome.wustl.edu 37 X 134709114 134709114 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 134709114 134709114 T C SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known missense c.1736 p.L579P 0.992 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 155 0 0 237 42 15.0538 MAP7D3 0 genome.wustl.edu 37 X 135314371 135314371 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 135314371 135314371 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.691 p.V231I 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 122 0 0 130 15 10.3448 GPR112 0 genome.wustl.edu 37 X 135405372 135405372 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 135405372 135405372 G A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.506 p.S169N 0.003 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 163 0 0 230 46 16.6667 GPR112 0 genome.wustl.edu 37 X 135428617 135428617 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 135428617 135428617 A C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.2752 p.T918P 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 202 0 0 197 48 19.5918 GPR112 0 genome.wustl.edu 37 X 135431470 135431470 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 135431470 135431470 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.5605 p.R1869G 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 116 0 0 146 35 19.337 GPR101 0 genome.wustl.edu 37 X 136112734 136112734 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 136112734 136112734 A G SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.1100 p.V367A 0.055 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 195 0 0 209 46 18.0392 ZIC3 0 genome.wustl.edu 37 X 136649262 136649262 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 136649262 136649262 G A SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.412 p.G138R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 29 0 0 20 6 23.0769 GEMIN8 0 genome.wustl.edu 37 X 14038456 14038456 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 14038456 14038456 C T SNP GEMIN8 ENST00000380523 human ensembl 74_37 -1 known silent c.213 p.A71 0.000 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 192 0 0 207 28 11.9149 MAGEC1 0 genome.wustl.edu 37 X 140995432 140995432 + Missense_Mutation SNP T T A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 140995432 140995432 T A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2242 p.S748T 0.718 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 343 0 0 414 72 14.8148 AFF2 0 genome.wustl.edu 37 X 147743680 147743680 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 147743680 147743680 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.432 p.L144 0.979 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 360 0 0 467 74 13.6784 MTM1 0 genome.wustl.edu 37 X 149809853 149809853 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 149809853 149809853 C T SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.640 p.R214W 0.991 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 116 0 0 198 32 13.913 HMGB3 0 genome.wustl.edu 37 X 150156290 150156290 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 150156290 150156290 C T SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known missense c.506 p.A169V 0.165 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 94 0 0 87 22 20.1835 GPR50 0 genome.wustl.edu 37 X 150348782 150348782 + Missense_Mutation SNP T T G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 150348782 150348782 T G SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.727 p.F243V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 156 0 0 152 25 14.1243 CNGA2 0 genome.wustl.edu 37 X 150911720 150911720 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 150911720 150911720 C T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.745 p.R249C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 199 0 0 171 33 16.1765 MAGEA12 0 genome.wustl.edu 37 X 151899916 151899916 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 151899916 151899916 T C SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.885 p.G295 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 295 0 0 322 52 13.9037 PNMA5 0 genome.wustl.edu 37 X 152158876 152158876 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 152158876 152158876 C T SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.1267 p.G423R 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 160 0 0 144 29 16.763 ATP2B3 0 genome.wustl.edu 37 X 152822455 152822455 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 152822455 152822455 A G SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.2407 p.K803E 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 13 0 0 12 3 20 AVPR2 0 genome.wustl.edu 37 X 153171758 153171758 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 153171758 153171758 G T SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known silent c.798 p.V266 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 158 0 0 130 15 10.3448 TMEM187 0 genome.wustl.edu 37 X 153247849 153247849 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 153247849 153247849 G A SNP TMEM187 ENST00000369982 human ensembl 74_37 +1 known silent c.336 p.A112 0.182 NULL NULL - no_errors TMEM187 HGNC ENSG00000177854 35 0 0 23 4 14.8148 VAMP7 0 genome.wustl.edu 37 X 155127786 155127786 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 155127786 155127786 G A SNP VAMP7 ENST00000262640 human ensembl 74_37 +1 known missense c.215 p.R72H 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors VAMP7 HGNC ENSG00000124333 78 0 0 121 12 9.02256 ZRSR2 0 genome.wustl.edu 37 X 15841310 15841310 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 15841310 15841310 G A SNP ZRSR2 ENST00000307771 human ensembl 74_37 +1 known missense c.1394 p.G465D 0.410 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR2 HGNC ENSG00000169249 53 0 0 55 10 15.3846 GPR64 0 genome.wustl.edu 37 X 19045371 19045371 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 19045371 19045371 T C SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.436 p.T146A 0.051 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 165 0 0 236 41 14.8014 KLHL34 0 genome.wustl.edu 37 X 21675009 21675009 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 21675009 21675009 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.898 p.A300T 0.018 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 KLHL34 HGNC ENSG00000185915 25 0 0 31 5 13.8889 PHEX 0 genome.wustl.edu 37 X 22051188 22051188 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 22051188 22051188 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.65 p.A22V 0.996 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 149 0 0 161 23 12.5 PTCHD1 0 genome.wustl.edu 37 X 23411550 23411550 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 23411550 23411550 G A SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1915 p.E639K 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 75 0 0 122 24 16.4384 ACOT9 0 genome.wustl.edu 37 X 23722911 23722911 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 23722911 23722911 C T SNP ACOT9 ENST00000379303 human ensembl 74_37 -1 known silent c.1158 p.V386 0.995 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 213 1 0.46729 340 21 5.81717 MXRA5 0 genome.wustl.edu 37 X 3229371 3229371 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 3229371 3229371 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.6873 p.S2291 0.058 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 139 0 0 121 29 19.3333 MXRA5 0 genome.wustl.edu 37 X 3235196 3235196 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 3235196 3235196 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6526 p.P2176T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 18 0 0 25 6 19.3548 MXRA5 0 genome.wustl.edu 37 X 3235707 3235707 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 3235707 3235707 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.6015 p.H2005 0.069 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 61 0 0 69 7 9.21053 FAM47A 0 genome.wustl.edu 37 X 34149740 34149740 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 34149740 34149740 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.656 p.P219L 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 118 0 0 131 11 7.74648 FAM47C 0 genome.wustl.edu 37 X 37027561 37027561 + Nonsense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 37027561 37027561 G T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known nonsense c.1078 p.E360* 0.947 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 191 0 0 179 35 16.3551 FAM47C 0 genome.wustl.edu 37 X 37028339 37028339 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 37028339 37028339 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1856 p.R619H 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 172 0 0 168 30 15.1515 XK 0 genome.wustl.edu 37 X 37545386 37545386 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 37545386 37545386 G A SNP XK ENST00000378616 human ensembl 74_37 +1 known missense c.172 p.V58I 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 27 0 0 31 6 16.2162 CASK 0 genome.wustl.edu 37 X 41413004 41413004 + Silent SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 41413004 41413004 T C SNP CASK ENST00000378163 human ensembl 74_37 -1 known silent c.2007 p.A669 0.693 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 20 0 0 40 6 13.0435 MAOA 0 genome.wustl.edu 37 X 43603382 43603382 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 43603382 43603382 C T SNP MAOA ENST00000338702 human ensembl 74_37 +1 known silent c.1401 p.T467 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 56 0 0 66 20 23.2558 RBM10 0 genome.wustl.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 47030582 47030582 G T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.357 p.E119D 0.922 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 52 0 0 67 4 5.6338 ARAF 0 genome.wustl.edu 37 X 47424262 47424262 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 47424262 47424262 G A SNP ARAF ENST00000377045 human ensembl 74_37 +1 known silent c.267 p.E89 1.000 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 27 0 0 33 9 21.4286 SYN1 0 genome.wustl.edu 37 X 47464744 47464744 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 47464744 47464744 G A SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known missense c.562 p.H188Y 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 48 0 0 38 9 19.1489 WDR13 0 genome.wustl.edu 37 X 48458953 48458953 + Missense_Mutation SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 48458953 48458953 A G SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known missense c.770 p.D257G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 62 0 0 44 9 16.9811 CCDC120 0 genome.wustl.edu 37 X 48923103 48923103 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 48923103 48923103 A G SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known silent c.906 p.P302 0.007 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 46 0 0 42 10 19.2308 CCDC120 0 genome.wustl.edu 37 X 48925339 48925339 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 48925339 48925339 G A SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known silent c.1689 p.V563 0.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 17 0 0 23 3 11.5385 DGKK 0 genome.wustl.edu 37 X 50125581 50125581 + RNA SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 50125581 50125581 A G SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 39 0 0 64 15 18.9873 GSPT2 0 genome.wustl.edu 37 X 51487354 51487354 + Missense_Mutation SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 51487354 51487354 A C SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.632 p.H211P 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 54 0 0 29 13 30.9524 MAGED1 0 genome.wustl.edu 37 X 51637865 51637865 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 51637865 51637865 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.188 p.T63M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 143 0 0 174 31 15.122 KDM5C 0 genome.wustl.edu 37 X 53222406 53222406 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 53222406 53222406 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.4426 p.E1476K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 87 0 0 108 16 12.9032 IQSEC2 0 genome.wustl.edu 37 X 53284024 53284024 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 53284024 53284024 C T SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.1089 p.M363I 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 32 0 0 23 5 17.8571 FAM120C 0 genome.wustl.edu 37 X 54209086 54209086 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 54209086 54209086 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known silent c.546 p.E182 0.998 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 42 0 0 34 4 10.5263 FAM120C 0 genome.wustl.edu 37 X 54209092 54209092 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 54209092 54209092 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known silent c.540 p.L180 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 46 0 0 34 4 10.5263 USP51 0 genome.wustl.edu 37 X 55513677 55513677 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 55513677 55513677 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.1696 p.A566T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 51 0 0 56 11 16.4179 MTMR8 0 genome.wustl.edu 37 X 63555964 63555964 + Silent SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 63555964 63555964 G T SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known silent c.1146 p.S382 0.694 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 44 0 0 93 16 14.6789 AR 0 genome.wustl.edu 37 X 66766584 66766584 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 66766584 66766584 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.1596 p.S532 0.824 NULL pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 28 0 0 29 7 19.4444 OPHN1 0 genome.wustl.edu 37 X 67412807 67412807 + Silent SNP A A C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 67412807 67412807 A C SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known silent c.1230 p.T410 0.667 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 88 0 0 100 15 13.0435 RAB41 0 genome.wustl.edu 37 X 69503872 69503872 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 69503872 69503872 A G SNP RAB41 ENST00000374473 human ensembl 74_37 +1 known silent c.528 p.K176 0.997 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB41 HGNC ENSG00000147127 48 0 0 74 7 8.64198 DLG3 0 genome.wustl.edu 37 X 69669629 69669629 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 69669629 69669629 C A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.677 p.P226H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ 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 35 0 0 23 9 28.125 DLG3 0 genome.wustl.edu 37 X 69719839 69719839 + Silent SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 69719839 69719839 C A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known silent c.2181 p.G727 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like 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 59 0 0 60 13 17.8082 NONO 0 genome.wustl.edu 37 X 70517705 70517705 + Missense_Mutation SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 70517705 70517705 C T SNP NONO ENST00000276079 human ensembl 74_37 +1 known missense c.1048 p.R350C 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 45 0 0 69 7 9.21053 CXCR3 0 genome.wustl.edu 37 X 70836598 70836598 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 70836598 70836598 G A SNP CXCR3 ENST00000373691 human ensembl 74_37 -1 known silent c.865 p.L289 0.979 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 41 0 0 27 6 18.1818 UPRT 0 genome.wustl.edu 37 X 74494453 74494453 + Missense_Mutation SNP C C A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 74494453 74494453 C A SNP UPRT ENST00000373383 human ensembl 74_37 +1 known missense c.364 p.L122I 1.000 NULL pfam_PRibTrfase_dom - no_errors UPRT HGNC ENSG00000094841 48 0 0 25 4 13.7931 MAGEE2 0 genome.wustl.edu 37 X 75004644 75004644 + Silent SNP C C T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 75004644 75004644 C T SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known silent c.243 p.A81 0.927 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 84 0 0 80 12 13.0435 MAGEE1 0 genome.wustl.edu 37 X 75649353 75649353 + Missense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 75649353 75649353 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1030 p.V344M 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 66 0 0 84 8 8.69565 MIR325 0 genome.wustl.edu 37 X 76225846 76225846 + RNA SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 76225846 76225846 G T SNP MIR325 ENST00000385260 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors MIR325 HGNC ENSG00000207995 53 0 0 82 22 21.1538 ATRX 0 genome.wustl.edu 37 X 76920196 76920196 + Missense_Mutation SNP T T C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 76920196 76920196 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.3881 p.D1294G 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 80 0 0 121 18 12.9496 PNPLA4 0 genome.wustl.edu 37 X 7870101 7870101 + Nonsense_Mutation SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 7870101 7870101 G A SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known nonsense c.559 p.R187* 0.004 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 109 0 0 145 17 10.4938 HDX 0 genome.wustl.edu 37 X 83724232 83724232 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 83724232 83724232 G T SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.499 p.L167I 0.296 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 116 1 0.854701 127 28 18.0645 APOOL 0 genome.wustl.edu 37 X 84310876 84310876 + Silent SNP G G A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 84310876 84310876 G A SNP APOOL ENST00000373173 human ensembl 74_37 +1 known silent c.339 p.P113 0.015 pfam_Apolipoprotein_O pfam_Apolipoprotein_O - no_errors APOOL HGNC ENSG00000155008 30 0 0 46 10 17.8571 TBL1X 0 genome.wustl.edu 37 X 9660159 9660159 + Silent SNP A A G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 9660159 9660159 A G SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known silent c.756 p.G252 0.972 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 200 0 0 236 55 18.9003 TSPAN6 0 genome.wustl.edu 37 X 99891682 99891682 + Missense_Mutation SNP G G T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 99891682 99891682 G T SNP TSPAN6 ENST00000373020 human ensembl 74_37 -1 known missense c.10 p.P4T 0.992 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN6 HGNC ENSG00000000003 35 0 0 30 3 9.09091 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 38 0 0 49 22 30.9859 TTLL10 0 genome.wustl.edu 37 1 1116223 1116223 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 1116223 1116223 G - DEL TTLL10 ENST00000379289 human ensembl 74_37 +1 known frame_shift_del c.738 p.V249fs 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 9 0 0 15 2 11.7647 SYCP1 0 genome.wustl.edu 37 1 115430252 115430252 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 115430252 115430252 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1196 p.N401fs 0.995 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 37 0 0 69 15 17.8571 ATP1A1OS 0 genome.wustl.edu 37 1 116935436 116935436 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 116935436 116935436 T - DEL ATP1A1OS ENST00000608511 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP1A1OS HGNC ENSG00000203865 37 0 0 65 11 14.4737 CD58 0 genome.wustl.edu 37 1 117087118 117087118 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 117087118 117087118 T - DEL CD58 ENST00000369489 human ensembl 74_37 -1 known frame_shift_del c.179 p.K60fs 0.048 NULL NULL - no_errors CD58 HGNC ENSG00000116815 41 0 0 57 9 13.6364 PIAS3 0 genome.wustl.edu 37 1 145578385 145578385 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 145578385 145578385 C - DEL PIAS3 ENST00000393045 human ensembl 74_37 +1 known frame_shift_del c.348 p.P118fs 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 148 0 0 174 26 13 VPS45 0 genome.wustl.edu 37 1 150082564 150082564 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 150082564 150082564 T - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS45 HGNC ENSG00000136631 30 0 0 41 25 37.8788 PLEKHO1 0 genome.wustl.edu 37 1 150131249 150131249 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 150131249 150131249 C - DEL PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known frame_shift_del c.659 p.Q222fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 94 0 0 104 16 13.3333 RPTN 0 genome.wustl.edu 37 1 152128528 152128528 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152128528 152128528 T - DEL RPTN ENST00000316073 human ensembl 74_37 -1 known frame_shift_del c.1047 p.G350fs 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 963 0 0 1105 201 15.3905 FLG2 0 genome.wustl.edu 37 1 152325255 152325256 + Frame_Shift_Ins INS - - TG TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152325255 152325256 - TG INS FLG2 ENST00000388718 human ensembl 74_37 -1 known frame_shift_ins c.5007_5006 p.T1670fs 0.000:0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 444 0 0 549 72 11.5942 CRCT1 0 genome.wustl.edu 37 1 152487960 152487962 + In_Frame_Del DEL CCT CCT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 152487960 152487962 CCT - DEL CRCT1 ENST00000368790 human ensembl 74_37 +1 known in_frame_del c.101_103 p.S38in_frame_del 0.014:0.021:0.097 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 25 0 0 23 6 20.6897 CLK2 0 genome.wustl.edu 37 1 155238600 155238600 + RNA DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 155238600 155238600 G - DEL CLK2 ENST00000497188 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CLK2 HGNC ENSG00000176444 64 0 0 55 13 19.1176 MEX3A 0 genome.wustl.edu 37 1 156046866 156046867 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 156046866 156046867 - G INS MEX3A ENST00000532414 human ensembl 74_37 -1 known frame_shift_ins c.1062_1061 p.R355fs 0.998:1.000 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 93 0 0 124 27 17.8808 VANGL2 0 genome.wustl.edu 37 1 160389203 160389203 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 160389203 160389203 G - DEL VANGL2 ENST00000368061 human ensembl 74_37 +1 known frame_shift_del c.604 p.V202fs 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 179 0 0 192 30 13.5135 ENSG00000228863 0 genome.wustl.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 160640798 160640798 T - DEL ENSG00000228863 ENST00000598917 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-404F10.2 Clone_based_vega_gene ENSG00000228863 10 0 0 18 10 35.7143 ARHGAP30 0 genome.wustl.edu 37 1 161023062 161023062 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 161023062 161023062 C - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.650 p.G217fs 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 72 0 0 98 9 8.41121 CDK11A 0 genome.wustl.edu 37 1 1635530 1635530 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 1635530 1635530 G - DEL CDK11A ENST00000404249 human ensembl 74_37 -1 known frame_shift_del c.1742 p.P581fs 0.242 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 CDK11A HGNC ENSG00000008128 57 0 0 49 12 19.6721 C1orf112 0 genome.wustl.edu 37 1 169822809 169822809 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 169822809 169822809 A - DEL C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 96 0 0 222 37 14.2857 FMO2 0 genome.wustl.edu 37 1 171178258 171178258 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 171178258 171178258 T - DEL FMO2 ENST00000529935 human ensembl 74_37 +1 known rna NULL NULL 0.941 - - - no_errors FMO2 HGNC ENSG00000094963 14 0 0 14 3 17.6471 GNB1 0 genome.wustl.edu 37 1 1749278 1749279 + Frame_Shift_Del DEL GA GA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 1749278 1749279 GA - DEL GNB1 ENST00000378609 human ensembl 74_37 -1 known frame_shift_del c.94_93 p.Q32fs 1.000:0.979 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC ENSG00000078369 45 0 0 71 8 10.1266 CEP350 0 genome.wustl.edu 37 1 179982981 179982981 + Splice_Site DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 179982981 179982981 G - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known splice_site_del c.1394-1 e9-1 0.963 - - - no_errors CEP350 HGNC ENSG00000135837 114 0 0 171 19 10 ARHGEF10L 0 genome.wustl.edu 37 1 18021551 18021552 + RNA INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 18021551 18021552 - G INS ARHGEF10L ENST00000495593 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ARHGEF10L HGNC ENSG00000074964 97 0 0 88 19 17.757 DHX9 0 genome.wustl.edu 37 1 182856513 182856514 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 182856513 182856514 - G INS DHX9 ENST00000367549 human ensembl 74_37 +1 known frame_shift_ins c.3757_3758 p.A1255fs 0.846:0.996 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 77 0 0 79 13 14.1304 KCNT2 0 genome.wustl.edu 37 1 196295987 196295987 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 196295987 196295987 T - DEL KCNT2 ENST00000294725 human ensembl 74_37 -1 known frame_shift_del c.2136 p.A713fs 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 64 0 0 134 15 10.0671 ZBTB41 0 genome.wustl.edu 37 1 197145703 197145703 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 197145703 197145703 T - DEL ZBTB41 ENST00000367405 human ensembl 74_37 -1 known frame_shift_del c.1870 p.I624fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 60 0 0 111 21 15.9091 ZBTB41 0 genome.wustl.edu 37 1 197168890 197168890 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 197168890 197168890 T - DEL ZBTB41 ENST00000367405 human ensembl 74_37 -1 known frame_shift_del c.714 p.K238fs 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 29 0 0 42 7 14.2857 CRB1 0 genome.wustl.edu 37 1 197404311 197404312 + Frame_Shift_Del DEL TC TC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 197404311 197404312 TC - DEL CRB1 ENST00000367400 human ensembl 74_37 +1 known frame_shift_del c.3318_3319 p.S1108fs 1.000:1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 86 0 0 131 18 12.0805 KDM5B 0 genome.wustl.edu 37 1 202699003 202699003 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 202699003 202699003 G - DEL KDM5B ENST00000367264 human ensembl 74_37 -1 known frame_shift_del c.4437 p.K1480fs 0.986 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 217 0 0 353 52 12.8395 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 102 0 0 95 12 11.215 CR1 0 genome.wustl.edu 37 1 207696973 207696973 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 207696973 207696973 C - DEL CR1 ENST00000367049 human ensembl 74_37 +1 known frame_shift_del c.505 p.T171fs 0.129 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 75 0 0 90 13 12.6214 IRF6 0 genome.wustl.edu 37 1 209961801 209961801 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 209961801 209961801 G - DEL IRF6 ENST00000367021 human ensembl 74_37 -1 known frame_shift_del c.1368 p.S457fs 0.671 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 109 0 0 119 20 14.3885 RCOR3 0 genome.wustl.edu 37 1 211451507 211451507 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 211451507 211451507 A - DEL RCOR3 ENST00000367005 human ensembl 74_37 +1 known frame_shift_del c.391 p.T133fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 69 0 0 154 24 13.4831 EIF4G3 0 genome.wustl.edu 37 1 21226332 21226332 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 21226332 21226332 T - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.1707 p.V570fs 0.003 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 225 2 0.881057 372 58 13.4884 RAB3GAP2 0 genome.wustl.edu 37 1 220324662 220324662 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 220324662 220324662 T - DEL RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known frame_shift_del c.4113 p.K1371fs 0.982 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 130 0 0 204 34 14.2857 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 32 0 0 45 11 19.6429 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 26 0 0 25 4 13.7931 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 66 0 0 69 11 13.75 TMEM57 0 genome.wustl.edu 37 1 25775374 25775375 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 25775374 25775375 - T INS TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_ins c.298_299 p.A103fs 1.000:1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 30 0 0 79 11 12.2222 ARID1A 0 genome.wustl.edu 37 1 27023769 27023769 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 27023769 27023769 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.875 p.T294fs 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 15 0 0 5 5 50 ARID1A 0 genome.wustl.edu 37 1 27106804 27106804 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 27106804 27106804 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6415 p.F2141fs 0.999 pfam_DUF3518,superfamily_ARM-type_fold 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 196 0 0 255 24 8.60215 SYTL1 0 genome.wustl.edu 37 1 27676357 27676357 + RNA DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 27676357 27676357 C - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SYTL1 HGNC ENSG00000142765 14 0 0 8 3 27.2727 YTHDF2 0 genome.wustl.edu 37 1 29069013 29069013 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 29069013 29069013 G - DEL YTHDF2 ENST00000373812 human ensembl 74_37 +1 known frame_shift_del c.231 p.G79fs 0.999 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 192 1 0.518135 237 37 13.5036 EPB41 0 genome.wustl.edu 37 1 29362428 29362428 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 29362428 29362428 T - DEL EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_del c.1456 p.F487fs 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain 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 56 0 0 112 8 6.66667 MAP7D1 0 genome.wustl.edu 37 1 36644580 36644580 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 36644580 36644580 A - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.2084 p.K696fs 1.000 pfam_MAP7 pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 8 0 0 9 3 25 HIVEP3 0 genome.wustl.edu 37 1 41979244 41979244 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 41979244 41979244 G - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.5648 p.P1883fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 42 0 0 53 13 19.697 MAST2 0 genome.wustl.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 46494559 46494559 T - DEL MAST2 ENST00000361297 human ensembl 74_37 +1 known frame_shift_del c.2172 p.F726fs 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 MAST2 HGNC ENSG00000086015 365 1 0.273224 438 68 13.4387 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581141 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 47581140 47581141 AA - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.008 - - - no_errors CYP4Z1 HGNC ENSG00000186160 17 0 0 26 4 13.3333 PODN 0 genome.wustl.edu 37 1 53543377 53543377 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 53543377 53543377 C - DEL PODN ENST00000312553 human ensembl 74_37 +1 known frame_shift_del c.903 p.P303fs 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 286 1 0.348432 374 62 14.2202 C1orf177 0 genome.wustl.edu 37 1 55279487 55279487 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 55279487 55279487 A - DEL C1orf177 ENST00000371273 human ensembl 74_37 +1 known frame_shift_del c.763 p.K257fs 0.997 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 41 0 0 84 11 11.5789 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 31 0 0 57 9 13.6364 JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 86 0 0 163 27 14.2105 PHF13 0 genome.wustl.edu 37 1 6680128 6680128 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 6680128 6680128 G - DEL PHF13 ENST00000377648 human ensembl 74_37 +1 known frame_shift_del c.407 p.G138fs 0.944 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 117 0 0 141 20 12.4224 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 18 0 0 20 6 23.0769 GNG12 0 genome.wustl.edu 37 1 68171150 68171151 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 68171150 68171151 - T INS GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_ins c.203_202 p.T68fs 1.000:1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 95 0 0 189 21 10 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 61 0 0 121 20 14.1844 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74929169 74929170 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 74929169 74929170 - T INS FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known frame_shift_ins c.2398_2399 p.G801fs 1.000:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 241 0 0 322 39 10.8033 ODF2L 0 genome.wustl.edu 37 1 86826142 86826142 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 86826142 86826142 T - DEL ODF2L ENST00000317336 human ensembl 74_37 -1 known frame_shift_del c.1221 p.K407fs 0.038 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 57 0 0 68 9 11.6883 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 31 0 0 54 7 11.4754 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 18 0 0 17 6 26.087 BTRC 0 genome.wustl.edu 37 10 103310573 103310573 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 103310573 103310573 C - DEL BTRC ENST00000370187 human ensembl 74_37 +1 known frame_shift_del c.1774 p.R594fs 1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 114 0 0 138 20 12.6582 TIAL1 0 genome.wustl.edu 37 10 121335157 121335157 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 121335157 121335157 T - DEL TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 158 1 0.628931 278 55 16.5165 INPP5F 0 genome.wustl.edu 37 10 121551149 121551149 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 121551149 121551149 A - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_del c.436 p.K147fs 1.000 pfam_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 73 0 0 133 7 5 TACC2 0 genome.wustl.edu 37 10 123844364 123844364 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 123844364 123844364 G - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.2349 p.E785fs 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 140 0 0 139 32 18.7135 FAM24A 0 genome.wustl.edu 37 10 124672308 124672308 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 124672308 124672308 A - DEL FAM24A ENST00000368894 human ensembl 74_37 +1 known frame_shift_del c.156 p.N54fs 0.000 NULL NULL - no_errors FAM24A HGNC ENSG00000203795 109 0 0 160 18 10.1124 BCCIP 0 genome.wustl.edu 37 10 127520212 127520212 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 127520212 127520212 T - DEL BCCIP ENST00000463330 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCCIP HGNC ENSG00000107949 44 0 0 60 11 15.493 MLLT10 0 genome.wustl.edu 37 10 21962452 21962452 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 21962452 21962452 G - DEL MLLT10 ENST00000307729 human ensembl 74_37 +1 known frame_shift_del c.1225 p.V411fs 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 260 1 0.383142 378 52 12.093 MASTL 0 genome.wustl.edu 37 10 27459056 27459056 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 27459056 27459056 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1168 p.K391fs 0.077 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 91 0 0 163 17 9.44444 C10orf68 0 genome.wustl.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 33018277 33018277 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.718 p.K242fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 38 0 0 107 17 13.7097 CTNNA3 0 genome.wustl.edu 37 10 67680138 67680138 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 67680138 67680138 T - DEL CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_del c.2638 p.I880fs 1.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 99 0 0 155 22 12.4294 CTNNA3 0 genome.wustl.edu 37 10 67680207 67680208 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 67680207 67680208 - T INS CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_ins c.2569_2568 p.P856fs 1.000:0.996 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 109 0 0 198 26 11.6071 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 43 0 0 51 14 21.5385 SYNPO2L 0 genome.wustl.edu 37 10 75407589 75407589 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 75407589 75407589 G - DEL SYNPO2L ENST00000394810 human ensembl 74_37 -1 known frame_shift_del c.1821 p.S608fs 0.013 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 95 0 0 89 10 10.101 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560547 + RNA DEL CC CC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 75560546 75560547 CC - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749:0.797 - - - no_errors ZSWIM8 HGNC ENSG00000214655 31 0 0 25 6 19.3548 GATA3 0 genome.wustl.edu 37 10 8115780 8115780 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 8115780 8115780 A - DEL GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_del c.1129 p.V379fs 1.000 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 100 0 0 135 23 14.557 PANK1 0 genome.wustl.edu 37 10 91359120 91359120 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 91359120 91359120 T - DEL PANK1 ENST00000307534 human ensembl 74_37 -1 known frame_shift_del c.1199 p.K400fs 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 277 1 0.359712 348 50 12.5628 HECTD2 0 genome.wustl.edu 37 10 93247418 93247418 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 10 93247418 93247418 T - DEL HECTD2 ENST00000498446 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HECTD2 HGNC ENSG00000165338 73 0 0 105 12 10.2564 BIRC3 0 genome.wustl.edu 37 11 102195491 102195491 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 102195491 102195491 A - DEL BIRC3 ENST00000263464 human ensembl 74_37 +1 known frame_shift_del c.251 p.K85fs 0.989 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 145 0 0 174 42 19.4444 CASP1 0 genome.wustl.edu 37 11 104901070 104901070 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 104901070 104901070 T - DEL CASP1 ENST00000436863 human ensembl 74_37 -1 known frame_shift_del c.614 p.N205fs 0.994 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 107 0 0 137 20 12.7389 AMPD3 0 genome.wustl.edu 37 11 10500145 10500145 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 10500145 10500145 C - DEL AMPD3 ENST00000396553 human ensembl 74_37 +1 known frame_shift_del c.294 p.P100fs 0.003 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 375 1 0.265957 457 53 10.3922 ATM 0 genome.wustl.edu 37 11 108114817 108114817 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 108114817 108114817 T - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.634 p.S214fs 0.976 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 36 0 0 67 12 15.1899 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif 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 DDX10 HGNC ENSG00000178105 41 0 0 56 12 17.6471 LAYN 0 genome.wustl.edu 37 11 111425991 111425991 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 111425991 111425991 A - DEL LAYN ENST00000375615 human ensembl 74_37 +1 known frame_shift_del c.658 p.T222fs 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 67 0 0 71 12 14.4578 NCAM1 0 genome.wustl.edu 37 11 113103872 113103872 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 113103872 113103872 C - DEL NCAM1 ENST00000316851 human ensembl 74_37 +1 known frame_shift_del c.1496 p.S501fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 78 0 0 57 13 18.5714 NLRX1 0 genome.wustl.edu 37 11 119044381 119044381 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 119044381 119044381 C - DEL NLRX1 ENST00000292199 human ensembl 74_37 +1 known frame_shift_del c.423 p.P143fs 0.010 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 84 0 0 72 17 19.1011 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 250 1 0.398406 346 46 11.7347 CCDC15 0 genome.wustl.edu 37 11 124845049 124845049 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 124845049 124845049 A - DEL CCDC15 ENST00000344762 human ensembl 74_37 +1 known frame_shift_del c.574 p.K194fs 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 24 0 0 53 7 11.6667 C11orf45 0 genome.wustl.edu 37 11 128774338 128774338 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 128774338 128774338 C - DEL C11orf45 ENST00000310799 human ensembl 74_37 -1 known frame_shift_del c.124 p.V42fs 0.000 NULL NULL - no_errors C11orf45 HGNC ENSG00000174370 188 0 0 218 38 14.8438 PDE3B 0 genome.wustl.edu 37 11 14880717 14880717 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 14880717 14880717 T - DEL PDE3B ENST00000282096 human ensembl 74_37 +1 known frame_shift_del c.2649 p.L885fs 0.996 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 50 0 0 100 21 17.3554 BDNF 0 genome.wustl.edu 37 11 27679518 27679519 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 27679518 27679519 - C INS BDNF ENST00000438929 human ensembl 74_37 -1 known frame_shift_ins c.840_839 p.I281fs 1.000:1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel 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 224 0 0 291 43 12.8743 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 32635951 32635951 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.024 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 22 0 0 38 10 20.8333 HIPK3 0 genome.wustl.edu 37 11 33358692 33358693 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 33 0 0 63 4 5.97015 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 36 0 0 77 14 15.3846 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 53 0 0 100 15 13.0435 VWCE 0 genome.wustl.edu 37 11 61044093 61044094 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 61044093 61044094 - G INS VWCE ENST00000335613 human ensembl 74_37 -1 known frame_shift_ins c.1467_1466 p.Q490fs 0.003:0.008 smart_VWC_out,smart_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 38 0 0 41 6 12.766 EML3 0 genome.wustl.edu 37 11 62377133 62377133 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 62377133 62377133 C - DEL EML3 ENST00000529309 human ensembl 74_37 -1 known frame_shift_del c.602 p.G201fs 0.998 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 352 0 0 524 73 12.2278 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 234 0 0 297 57 16.1017 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 48 0 0 65 17 20.7317 MALAT1 0 genome.wustl.edu 37 11 65272060 65272060 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65272060 65272060 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.084 - - - no_errors MALAT1 HGNC ENSG00000251562 25 0 0 43 7 14 LTBP3 0 genome.wustl.edu 37 11 65314283 65314283 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 65314283 65314283 C - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_del c.2216 p.G739fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 97 0 0 72 20 21.7391 POLD3 0 genome.wustl.edu 37 11 74336609 74336609 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 74336609 74336609 A - DEL POLD3 ENST00000263681 human ensembl 74_37 +1 known frame_shift_del c.890 p.R300fs 0.998 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 41 0 0 53 10 15.873 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154813 + RNA DEL AAA AAA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 11 78154811 78154813 AAA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 40 0 0 33 3 8.33333 PAH 0 genome.wustl.edu 37 12 103310938 103310938 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 103310938 103310938 T - DEL PAH ENST00000547319 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PAH HGNC ENSG00000171759 55 0 0 37 18 32.7273 TAS2R8 0 genome.wustl.edu 37 12 10959322 10959322 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 10959322 10959322 A - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.258 p.F86fs 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 95 0 0 197 20 9.21659 ANKRD13A 0 genome.wustl.edu 37 12 110468565 110468566 + Splice_Site INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 110468565 110468566 - A INS ANKRD13A ENST00000261739 human ensembl 74_37 +1 known splice_site_ins c.1348+2_1348+1 e12+2 1.000:0.873 - - - no_errors ANKRD13A HGNC ENSG00000076513 27 0 0 33 9 21.4286 DNAH10 0 genome.wustl.edu 37 12 124256216 124256217 + Frame_Shift_Del DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 124256216 124256217 AA - DEL DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_del c.184_185 p.K62fs 0.001:0.000 NULL 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 33 0 0 59 16 21.3333 APOLD1 0 genome.wustl.edu 37 12 12938628 12938635 + Frame_Shift_Del DEL GGTAAGTG GGTAAGTG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GGTAAGTG GGTAAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 12938628 12938635 GGTAAGTG - DEL APOLD1 ENST00000356591 human ensembl 74_37 +1 known frame_shift_del c.3 p.G2fs 0.994 NULL pfam_ApoL - no_errors APOLD1 HGNC ENSG00000178878 100 0 0 146 14 8.75 TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 130184704 130184705 - G INS TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 65 0 0 91 10 9.90099 EP400 0 genome.wustl.edu 37 12 132475215 132475215 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 132475215 132475215 A - DEL EP400 ENST00000333577 human ensembl 74_37 +1 known frame_shift_del c.2693 p.R900fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 64 0 0 141 24 14.5455 RECQL 0 genome.wustl.edu 37 12 21644547 21644547 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 21644547 21644547 T - DEL RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_del c.120 p.V41fs 0.001 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 34 0 0 65 16 19.7531 FKBP4 0 genome.wustl.edu 37 12 2907011 2907011 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 2907011 2907011 C - DEL FKBP4 ENST00000001008 human ensembl 74_37 +1 known frame_shift_del c.367 p.N125fs 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 201 0 0 245 22 8.2397 GXYLT1 0 genome.wustl.edu 37 12 42499815 42499816 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 57 0 0 87 22 20.1835 KMT2D 0 genome.wustl.edu 37 12 49445500 49445500 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 139 0 0 129 43 25 MAP3K12 0 genome.wustl.edu 37 12 53874984 53874985 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 53874984 53874985 - G INS MAP3K12 ENST00000267079 human ensembl 74_37 -1 known frame_shift_ins c.2562_2561 p.A855fs 0.994:1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 52 0 0 67 13 16.25 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 133 0 0 325 33 9.21788 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 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 OR6C75 HGNC ENSG00000187857 68 0 0 119 41 25.625 BAZ2A 0 genome.wustl.edu 37 12 57008974 57008974 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 57008974 57008974 A - DEL BAZ2A ENST00000551812 human ensembl 74_37 -1 known frame_shift_del c.560 p.F187fs 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,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,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 BAZ2A HGNC ENSG00000076108 51 0 0 59 8 11.9403 LEPREL2 0 genome.wustl.edu 37 12 6939061 6939063 + In_Frame_Del DEL CTT CTT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 6939061 6939063 CTT - DEL LEPREL2 ENST00000396725 human ensembl 74_37 +1 known in_frame_del c.534_536 p.F180in_frame_del 1.000:1.000:1.000 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 232 0 0 285 88 23.5925 E2F7 0 genome.wustl.edu 37 12 77419717 77419717 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 77419717 77419717 G - DEL E2F7 ENST00000322886 human ensembl 74_37 -1 known frame_shift_del c.2186 p.P729fs 0.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 21 0 0 47 12 20.339 TMTC2 0 genome.wustl.edu 37 12 83444732 83444732 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 83444732 83444732 A - DEL TMTC2 ENST00000321196 human ensembl 74_37 +1 known frame_shift_del c.2202 p.A737fs 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 34 0 0 61 11 15.2778 EEA1 0 genome.wustl.edu 37 12 93172940 93172940 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 93172940 93172940 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.3605 p.K1202fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 121 0 0 233 27 10.3846 NDUFA12 0 genome.wustl.edu 37 12 95387988 95387988 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 12 95387988 95387988 T - DEL NDUFA12 ENST00000327772 human ensembl 74_37 -1 known frame_shift_del c.215 p.N72fs 0.995 NULL NULL - no_errors NDUFA12 HGNC ENSG00000184752 52 0 0 87 25 22.3214 COL4A2 0 genome.wustl.edu 37 13 111114439 111114439 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 111114439 111114439 T - DEL COL4A2 ENST00000478681 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 50 0 0 36 14 28 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 10 0 0 9 4 30.7692 USPL1 0 genome.wustl.edu 37 13 31231961 31231962 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 31231961 31231962 - T INS USPL1 ENST00000255304 human ensembl 74_37 +1 known frame_shift_ins c.1747_1748 p.L584fs 0.000:0.010 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 87 0 0 165 10 5.71429 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 11 0 0 28 7 20 UTP14C 0 genome.wustl.edu 37 13 52603836 52603836 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 52603836 52603836 A - DEL UTP14C ENST00000521776 human ensembl 74_37 +1 known frame_shift_del c.896 p.N300fs 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 189 0 0 214 31 12.6531 LMO7 0 genome.wustl.edu 37 13 76432174 76432174 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 76432174 76432174 T - DEL LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LMO7 HGNC ENSG00000136153 33 0 0 41 5 10.8696 MYCBP2 0 genome.wustl.edu 37 13 77641917 77641917 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 77641917 77641917 G - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.12254 p.P4085fs 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 152 0 0 256 38 12.9252 MYCBP2 0 genome.wustl.edu 37 13 77900636 77900636 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 77900636 77900636 C - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.275 p.G92fs 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 45 0 0 63 8 11.2676 UGGT2 0 genome.wustl.edu 37 13 96513045 96513045 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 13 96513045 96513045 A - DEL UGGT2 ENST00000376747 human ensembl 74_37 -1 known frame_shift_del c.3737 p.L1246fs 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 24 0 0 43 11 20.3704 RPGRIP1 0 genome.wustl.edu 37 14 21794313 21794313 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 21794313 21794313 A - DEL RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known frame_shift_del c.2691 p.N899fs 0.956 superfamily_C2_dom pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 42 0 0 52 9 14.7541 OR10G2 0 genome.wustl.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 22102924 22102925 - G INS OR10G2 ENST00000542433 human ensembl 74_37 -1 known frame_shift_ins c.75_74 p.N26fs 0.000:0.048 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 147 0 0 194 28 12.6126 MIS18BP1 0 genome.wustl.edu 37 14 45716019 45716019 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 45716019 45716019 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.471 p.K157fs 0.001 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 64 0 0 124 24 16.2162 PRKCH 0 genome.wustl.edu 37 14 62016563 62016564 + RNA DEL GA GA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 62016563 62016564 GA - DEL PRKCH ENST00000536400 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PRKCH HGNC ENSG00000027075 71 0 0 112 18 13.8462 ENSG00000259648 0 genome.wustl.edu 37 14 68082827 68082827 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 68082827 68082827 T - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 46 0 0 83 16 16.1616 GALNT16 0 genome.wustl.edu 37 14 69800300 69800300 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 69800300 69800300 G - DEL GALNT16 ENST00000337827 human ensembl 74_37 +1 known frame_shift_del c.950 p.G319fs 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 65 0 0 68 10 12.8205 SERPINA13P 0 genome.wustl.edu 37 14 95108124 95108124 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 14 95108124 95108124 A - DEL SERPINA13P ENST00000469935 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SERPINA13P HGNC ENSG00000187483 185 0 0 211 33 13.5246 SNORD116-2 0 genome.wustl.edu 37 15 25299376 25299377 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 25299376 25299377 AA - DEL SNORD116-2 ENST00000384274 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SNORD116-2 HGNC ENSG00000207001 176 0 0 249 43 14.726 GJD2 0 genome.wustl.edu 37 15 35045250 35045250 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 35045250 35045250 C - DEL GJD2 ENST00000290374 human ensembl 74_37 -1 known frame_shift_del c.395 p.G132fs 1.000 prints_Connexin36 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 209 0 0 235 42 15.1625 MYO5A 0 genome.wustl.edu 37 15 52620058 52620058 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 52620058 52620058 T - DEL MYO5A ENST00000358212 human ensembl 74_37 -1 known frame_shift_del c.4701 p.V1568fs 1.000 pfscan_Dilute 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 138 0 0 288 45 13.5135 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 284 1 0.350877 283 65 18.6782 BLM 0 genome.wustl.edu 37 15 91292793 91292794 + Frame_Shift_Del DEL AC AC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 91292793 91292794 AC - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.295_296 p.Q100fs 0.001:0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 95 0 0 104 24 18.75 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 51 0 0 66 13 16.4557 SMG1 0 genome.wustl.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 18937310 18937312 GCC - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known in_frame_del c.54_52 p.G18in_frame_del 1.000:1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 22 0 0 18 3 14.2857 ZKSCAN2 0 genome.wustl.edu 37 16 25255311 25255311 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 25255311 25255311 G - DEL ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known frame_shift_del c.1776 p.S593fs 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 99 0 0 144 17 10.559 GTF3C1 0 genome.wustl.edu 37 16 27549671 27549671 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 27549671 27549671 C - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.438 p.K147fs 0.737 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 131 0 0 111 14 11.2 SEZ6L2 0 genome.wustl.edu 37 16 29891249 29891249 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 29891249 29891249 G - DEL SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known frame_shift_del c.1509 p.N504fs 0.998 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_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 329 0 0 341 36 9.54907 ITFG3 0 genome.wustl.edu 37 16 304498 304499 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 304498 304499 - A INS ITFG3 ENST00000301678 human ensembl 74_37 +1 known frame_shift_ins c.86_87 p.N31fs 0.000:0.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 225 0 0 323 56 14.7757 CREBBP 0 genome.wustl.edu 37 16 3781324 3781326 + In_Frame_Del DEL AGG AGG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 3781324 3781326 AGG - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known in_frame_del c.5041_5039 p.S1680in_frame_del 0.602:0.536:1.000 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 38 0 0 40 7 14.8936 CREBBP 0 genome.wustl.edu 37 16 3789590 3789591 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 3789590 3789591 - G INS CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_ins c.4269_4268 p.P1424fs 0.957:0.998 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 CREBBP HGNC ENSG00000005339 78 0 0 81 7 7.95455 NLRC5 0 genome.wustl.edu 37 16 57060196 57060196 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 57060196 57060196 C - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.1341 p.P449fs 0.900 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 122 0 0 105 14 11.7647 TK2 0 genome.wustl.edu 37 16 66547656 66547656 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 66547656 66547656 A - DEL TK2 ENST00000299697 human ensembl 74_37 -1 known frame_shift_del c.803 p.F268fs 0.741 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors TK2 HGNC ENSG00000166548 62 0 0 65 11 14.4737 FAM65A 0 genome.wustl.edu 37 16 67575786 67575788 + In_Frame_Del DEL AGG AGG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67575786 67575788 AGG - DEL FAM65A ENST00000422602 human ensembl 74_37 +1 known in_frame_del c.1157_1159 p.E388in_frame_del 1.000:1.000:1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 129 0 0 126 15 10.6383 CTCF 0 genome.wustl.edu 37 16 67645339 67645339 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 67645339 67645339 A - DEL CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_del c.604 p.T204fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 90 0 0 111 26 18.9781 ESRP2 0 genome.wustl.edu 37 16 68264442 68264442 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 68264442 68264442 G - DEL ESRP2 ENST00000565858 human ensembl 74_37 -1 known frame_shift_del c.1944 p.T649fs 0.467 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 104 0 0 95 10 9.52381 HYDIN 0 genome.wustl.edu 37 16 70972629 70972630 + Frame_Shift_Ins INS - - TG TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 70972629 70972630 - TG INS HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_ins c.6883_6882 p.E2294fs 0.997:0.077 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 57 0 0 68 6 8.10811 DNAAF1 0 genome.wustl.edu 37 16 84209824 84209824 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 84209824 84209824 C - DEL DNAAF1 ENST00000378553 human ensembl 74_37 +1 known frame_shift_del c.1984 p.T664fs 0.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 77 0 0 90 8 8.16327 FOXC2 0 genome.wustl.edu 37 16 86601500 86601500 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 86601500 86601500 C - DEL FOXC2 ENST00000320354 human ensembl 74_37 +1 known frame_shift_del c.559 p.P188fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 100 0 0 94 11 10.4762 ZC3H18 0 genome.wustl.edu 37 16 88691140 88691141 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 16 88691140 88691141 - C INS ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_ins c.2029_2030 p.R680fs 0.978:0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 41 0 0 49 7 12.5 MYH2 0 genome.wustl.edu 37 17 10446227 10446228 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 10446227 10446228 - A INS MYH2 ENST00000245503 human ensembl 74_37 -1 known frame_shift_ins c.869_868 p.Y290fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 33 0 0 51 6 10.5263 MYOCD 0 genome.wustl.edu 37 17 12642606 12642606 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 12642606 12642606 C - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.678 p.S229fs 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 103 0 0 94 18 16.0714 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 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 NLK HGNC ENSG00000087095 90 0 0 152 23 13.1429 EFCAB5 0 genome.wustl.edu 37 17 28296061 28296061 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 28296061 28296061 A - DEL EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_del c.443 p.K150fs 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 19 0 0 31 7 18.4211 RAD51D 0 genome.wustl.edu 37 17 33445634 33445645 + Frame_Shift_Del DEL AGGGCCTGCCAA AGGGCCTGCCAA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AGGGCCTGCCAA AGGGCCTGCCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 33445634 33445645 AGGGCCTGCCAA - DEL RAD51D ENST00000345365 human ensembl 74_37 -1 known frame_shift_del c.149_145 p.A49fs 1.000:1.000:1.000:1.000:1.000 pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 105 0 0 127 9 6.61765 ITGAE 0 genome.wustl.edu 37 17 3646898 3646900 + In_Frame_Del DEL TCC TCC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 3646898 3646900 TCC - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known in_frame_del c.2333_2331 p.E777in_frame_del 0.989:0.959:0.667 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 281 0 0 303 38 11.1437 SRCIN1 0 genome.wustl.edu 37 17 36708254 36708254 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 36708254 36708254 G - DEL SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_del c.2595 p.S866fs 0.998 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 95 0 0 119 21 15 ZZEF1 0 genome.wustl.edu 37 17 3919623 3919625 + In_Frame_Del DEL GTT GTT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 3919623 3919625 GTT - DEL ZZEF1 ENST00000381638 human ensembl 74_37 -1 known in_frame_del c.8139_8137 p.N2713in_frame_del 1.000:1.000:1.000 superfamily_CUB_dom pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 172 0 0 174 14 7.44681 KANSL1 0 genome.wustl.edu 37 17 44109601 44109601 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 44109601 44109601 G - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.2902 p.Q968fs 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 103 0 0 166 35 17.4129 HOXB3 0 genome.wustl.edu 37 17 46628219 46628219 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 46628219 46628219 C - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.773 p.G258fs 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 219 0 0 215 31 12.6016 XYLT2 0 genome.wustl.edu 37 17 48431304 48431304 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 48431304 48431304 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.449 p.Q152fs 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 63 0 0 71 6 7.79221 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 128 1 0.775194 148 20 11.9048 COIL 0 genome.wustl.edu 37 17 55028118 55028118 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 55028118 55028118 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.485 p.N162fs 0.013 NULL NULL - no_errors COIL HGNC ENSG00000121058 93 0 0 156 24 13.3333 CEP95 0 genome.wustl.edu 37 17 62517549 62517549 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 62517549 62517549 A - DEL CEP95 ENST00000556440 human ensembl 74_37 +1 known frame_shift_del c.619 p.A209fs 0.255 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 18 0 0 44 7 13.7255 PRKCA 0 genome.wustl.edu 37 17 64683239 64683239 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 64683239 64683239 A - DEL PRKCA ENST00000413366 human ensembl 74_37 +1 known frame_shift_del c.540 p.N182fs 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 98 0 0 170 24 12.3711 UNC13D 0 genome.wustl.edu 37 17 73838636 73838637 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 73838636 73838637 - C INS UNC13D ENST00000412096 human ensembl 74_37 -1 known frame_shift_ins c.447_446 p.S150fs 0.970:0.346 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 129 0 0 122 19 13.4752 EFNB3 0 genome.wustl.edu 37 17 7611436 7611436 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 17 7611436 7611436 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.283 p.P96fs 0.825 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 159 0 0 218 32 12.8 C18orf8 0 genome.wustl.edu 37 18 21111681 21111681 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 21111681 21111681 T - DEL C18orf8 ENST00000591367 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C18orf8 HGNC ENSG00000141452 90 0 0 174 21 10.7692 KLHL14 0 genome.wustl.edu 37 18 30350355 30350355 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 30350355 30350355 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.200 p.P67fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 67 0 0 49 6 10.9091 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 97 0 0 120 9 6.97674 PIAS2 0 genome.wustl.edu 37 18 44444173 44444174 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 44444173 44444174 - A INS PIAS2 ENST00000585916 human ensembl 74_37 -1 known frame_shift_ins c.538_537 p.I179fs 1.000:1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 52 0 0 74 13 14.9425 MBD2 0 genome.wustl.edu 37 18 51729376 51729376 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 51729376 51729376 G - DEL MBD2 ENST00000583046 human ensembl 74_37 -1 known frame_shift_del c.799 p.L267fs 0.956 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 269 0 0 278 30 9.74026 DSEL 0 genome.wustl.edu 37 18 65178797 65178798 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 65178797 65178798 - A INS DSEL ENST00000310045 human ensembl 74_37 -1 known frame_shift_ins c.3079_3078 p.Q1026fs 1.000:1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 117 0 0 188 25 11.7371 LAMA1 0 genome.wustl.edu 37 18 6975037 6975038 + Splice_Site INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 18 6975037 6975038 - G INS LAMA1 ENST00000389658 human ensembl 74_37 -1 known splice_site_ins c.6490-3_6490-2 e46-2 1.000:0.972 - - - no_errors LAMA1 HGNC ENSG00000101680 31 0 0 29 7 19.4444 JUNB 0 genome.wustl.edu 37 19 12902925 12902925 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 12902925 12902925 G - DEL JUNB ENST00000302754 human ensembl 74_37 +1 known frame_shift_del c.340 p.G115fs 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 20 0 0 21 6 22.2222 BRD4 0 genome.wustl.edu 37 19 15376248 15376248 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 15376248 15376248 G - DEL BRD4 ENST00000263377 human ensembl 74_37 -1 known frame_shift_del c.766 p.Q256fs 0.998 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 37 0 0 40 6 13.0435 TMEM38A 0 genome.wustl.edu 37 19 16791226 16791226 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 16791226 16791226 C - DEL TMEM38A ENST00000187762 human ensembl 74_37 +1 known frame_shift_del c.300 p.L102fs 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 598 0 0 855 109 11.3071 MYO9B 0 genome.wustl.edu 37 19 17322706 17322706 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 17322706 17322706 C - DEL MYO9B ENST00000594824 human ensembl 74_37 +1 known frame_shift_del c.6061 p.P2022fs 0.996 NULL 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 40 0 0 50 7 12.2807 MRPL34 0 genome.wustl.edu 37 19 17403453 17403453 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 17403453 17403453 C - DEL MRPL34 ENST00000595444 human ensembl 74_37 +1 putative frame_shift_del c.4 p.R3fs 0.054 NULL pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 - no_errors MRPL34 HGNC ENSG00000130312 27 0 0 21 4 16 PLVAP 0 genome.wustl.edu 37 19 17488051 17488051 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 17488051 17488051 C - DEL PLVAP ENST00000252590 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 201 1 0.49505 247 42 14.5329 KLHL26 0 genome.wustl.edu 37 19 18779306 18779306 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 18779306 18779306 G - DEL KLHL26 ENST00000300976 human ensembl 74_37 +1 known frame_shift_del c.1099 p.Q369fs 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 56 0 0 56 5 8.19672 HAPLN4 0 genome.wustl.edu 37 19 19369444 19369444 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 19369444 19369444 C - DEL HAPLN4 ENST00000291481 human ensembl 74_37 -1 known frame_shift_del c.705 p.T236fs 0.168 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 51 0 0 55 11 16.6667 SLC39A3 0 genome.wustl.edu 37 19 2733111 2733111 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 2733111 2733111 C - DEL SLC39A3 ENST00000269740 human ensembl 74_37 -1 known frame_shift_del c.583 p.E195fs 0.988 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 158 0 0 144 25 14.7929 URI1 0 genome.wustl.edu 37 19 30496293 30496293 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 30496293 30496293 A - DEL URI1 ENST00000542441 human ensembl 74_37 +1 known frame_shift_del c.393 p.V134fs 0.993 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 43 0 0 69 11 13.75 KMT2B 0 genome.wustl.edu 37 19 36224731 36224731 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 36224731 36224731 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.7117 p.P2374fs 0.974 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 85 0 0 103 8 7.20721 APBA3 0 genome.wustl.edu 37 19 3752611 3752611 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 3752611 3752611 C - DEL APBA3 ENST00000316757 human ensembl 74_37 -1 known frame_shift_del c.1290 p.P431fs 0.295 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 16 0 0 25 2 7.40741 ZNF570 0 genome.wustl.edu 37 19 37975121 37975122 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 37975121 37975122 - A INS ZNF570 ENST00000330173 human ensembl 74_37 +1 known frame_shift_ins c.597_598 p.N201fs 0.003:0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 192 0 0 347 58 14.321 PRX 0 genome.wustl.edu 37 19 40900062 40900062 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 40900062 40900062 G - DEL PRX ENST00000324001 human ensembl 74_37 -1 known frame_shift_del c.4197 p.K1400fs 0.764 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 160 0 0 174 25 12.5628 SEMA6B 0 genome.wustl.edu 37 19 4552597 4552597 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 4552597 4552597 G - DEL SEMA6B ENST00000301293 human ensembl 74_37 -1 known frame_shift_del c.826 p.R276fs 0.999 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 82 0 0 83 8 8.79121 GLTSCR1 0 genome.wustl.edu 37 19 48197891 48197892 + Frame_Shift_Del DEL CC CC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 48197891 48197892 CC - DEL GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_del c.2803_2804 p.P937fs 0.226:0.347 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 37 0 0 56 10 15.1515 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 86 0 0 104 38 26.7606 TRPM4 0 genome.wustl.edu 37 19 49686068 49686069 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49686068 49686069 - C INS TRPM4 ENST00000252826 human ensembl 74_37 +1 known frame_shift_ins c.1497_1498 p.D501fs 0.000:0.002 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 47 0 0 54 10 15.625 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 296 0 0 393 55 12.2768 ALDH16A1 0 genome.wustl.edu 37 19 49965948 49965948 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 49965948 49965948 G - DEL ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known frame_shift_del c.1034 p.A347fs 0.045 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 78 0 0 55 11 16.6667 SCAF1 0 genome.wustl.edu 37 19 50161575 50161575 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50161575 50161575 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3858 p.P1288fs 0.960 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 22 0 0 30 6 16.6667 AP2A1 0 genome.wustl.edu 37 19 50304646 50304647 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50304646 50304647 - C INS AP2A1 ENST00000354293 human ensembl 74_37 +1 known frame_shift_ins c.1555_1554 p.V522fs 1.000:1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 103 0 0 86 14 14 ZNF473 0 genome.wustl.edu 37 19 50549329 50549330 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 50549329 50549330 - T INS ZNF473 ENST00000270617 human ensembl 74_37 +1 known frame_shift_ins c.1629_1630 p.V545fs 0.000:0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 95 0 0 162 26 13.8298 PTPRS 0 genome.wustl.edu 37 19 5231528 5231528 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 5231528 5231528 C - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.1951 p.A651fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 45 0 0 48 11 18.6441 PTPRS 0 genome.wustl.edu 37 19 5231611 5231611 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 5231611 5231611 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.1868 p.P623fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 17 0 0 23 2 8 ZNF816 0 genome.wustl.edu 37 19 53453423 53453423 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 53453423 53453423 T - DEL ZNF816 ENST00000357666 human ensembl 74_37 -1 known frame_shift_del c.1605 p.K535fs 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 ZNF816 HGNC ENSG00000180257 116 0 0 197 19 8.7963 ZNF347 0 genome.wustl.edu 37 19 53643876 53643876 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 53643876 53643876 T - DEL ZNF347 ENST00000452676 human ensembl 74_37 -1 known frame_shift_del c.2208 p.K736fs 0.002 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 166 0 0 244 41 14.386 ZNF331 0 genome.wustl.edu 37 19 54079990 54079990 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 54079990 54079990 A - DEL ZNF331 ENST00000253144 human ensembl 74_37 +1 known frame_shift_del c.176 p.N61fs 0.000 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 ZNF331 HGNC ENSG00000130844 57 0 0 77 11 12.5 PRTN3 0 genome.wustl.edu 37 19 846269 846269 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 19 846269 846269 C - DEL PRTN3 ENST00000234347 human ensembl 74_37 +1 known frame_shift_del c.492 p.P166fs 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 18 0 0 23 3 11.5385 IL1RL2 0 genome.wustl.edu 37 2 102805737 102805737 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 102805737 102805737 G - DEL IL1RL2 ENST00000264257 human ensembl 74_37 +1 known frame_shift_del c.260 p.D89fs 0.000 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 33 0 0 47 7 12.963 ATP6V1C2 0 genome.wustl.edu 37 2 10904470 10904471 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 10904470 10904471 - T INS ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.V100fs 0.452:0.539 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 100 0 0 104 20 16.129 GCC2 0 genome.wustl.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 109086477 109086477 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 120 1 0.826446 197 37 15.812 ROCK2 0 genome.wustl.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 11389837 11389837 A - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.412 p.W138fs 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,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 128 0 0 216 32 12.9032 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 39 0 0 56 18 24.3243 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 73 0 0 129 36 21.8182 CACNB4 0 genome.wustl.edu 37 2 152709963 152709963 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 152709963 152709963 G - DEL CACNB4 ENST00000539935 human ensembl 74_37 -1 known frame_shift_del c.1115 p.P372fs 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu 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 13 0 0 13 3 18.75 MYCN 0 genome.wustl.edu 37 2 16082314 16082314 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 16082314 16082314 C - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.128 p.P45fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 60 0 0 74 6 7.5 MYCN 0 genome.wustl.edu 37 2 16082321 16082321 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 16082321 16082321 G - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.135 p.E47fs 0.986 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 52 0 0 69 6 8 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549340 + Frame_Shift_Del DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 172549339 172549340 AA - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161_162 p.R57fs 1.000:0.999 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 24 0 0 32 5 13.5135 SMC6 0 genome.wustl.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 17898126 17898126 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1306 p.I436fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 26 0 0 55 12 17.9104 TTN 0 genome.wustl.edu 37 2 179424814 179424814 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179424814 179424814 G - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.78341 p.P26114fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 1 0.980392 90 16 15.0943 TTN 0 genome.wustl.edu 37 2 179469822 179469822 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 179469822 179469822 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.46378 p.T15460fs 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 156 0 0 186 28 13.0841 PMS1 0 genome.wustl.edu 37 2 190670540 190670540 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 190670540 190670540 A - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478 p.K163fs 0.001 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 10 0 0 15 6 28.5714 GLS 0 genome.wustl.edu 37 2 191797646 191797646 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 191797646 191797646 T - DEL GLS ENST00000471443 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors GLS HGNC ENSG00000115419 11 0 0 25 7 21.875 SGOL2 0 genome.wustl.edu 37 2 201436289 201436289 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 201436289 201436289 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1220 p.K409fs 0.134 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 111 0 0 160 20 11.1111 RAPH1 0 genome.wustl.edu 37 2 204305797 204305798 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 204305797 204305798 - G INS RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_ins c.2272_2271 p.N757fs 0.881:0.912 superfamily_Kinase-like_dom 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 82 0 0 103 13 11.2069 PARD3B 0 genome.wustl.edu 37 2 206166502 206166503 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 206166502 206166503 - A INS PARD3B ENST00000462231 human ensembl 74_37 +1 putative frame_shift_ins c.2681_2680 p.A896fs 0.000:0.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 51 0 0 67 12 15.1899 NRP2 0 genome.wustl.edu 37 2 206631544 206631545 + Splice_Site INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 206631544 206631545 - A INS NRP2 ENST00000360409 human ensembl 74_37 +1 known splice_site_ins c.2440+2_2440+1 e15+2 1.000:1.000 - - - no_errors NRP2 HGNC ENSG00000118257 64 0 0 87 10 10.3093 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 48 0 0 55 18 24.6575 TRPM8 0 genome.wustl.edu 37 2 234879009 234879010 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 234879009 234879010 - C INS TRPM8 ENST00000324695 human ensembl 74_37 +1 known frame_shift_ins c.2294_2295 p.E768fs 0.005:0.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 414 2 0.480769 512 71 12.1784 SNED1 0 genome.wustl.edu 37 2 241992583 241992583 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 241992583 241992583 C - DEL SNED1 ENST00000310397 human ensembl 74_37 +1 known frame_shift_del c.2097 p.P701fs 0.106 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 32 0 0 30 4 11.7647 HDLBP 0 genome.wustl.edu 37 2 242196134 242196134 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 242196134 242196134 T - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.538 p.T180fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 131 0 0 146 34 18.8889 C2orf70 0 genome.wustl.edu 37 2 26800479 26800479 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 26800479 26800479 C - DEL C2orf70 ENST00000329615 human ensembl 74_37 +1 known frame_shift_del c.444 p.L150fs 0.999 NULL pfam_UPF0573/UPF0605 - no_errors C2orf70 HGNC ENSG00000173557 121 0 0 109 16 12.8 ENSG00000272056 0 genome.wustl.edu 37 2 27276505 27276505 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 27276505 27276505 T - DEL ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 33 0 0 33 4 10.8108 BIRC6 0 genome.wustl.edu 37 2 32740190 32740192 + In_Frame_Del DEL CCT CCT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 32740190 32740192 CCT - DEL BIRC6 ENST00000421745 human ensembl 74_37 +1 known in_frame_del c.10702_10704 p.P3570in_frame_del 0.986:0.991:0.556 pfam_DUF3643 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 47 0 0 74 11 12.9412 SULT6B1 0 genome.wustl.edu 37 2 37414553 37414553 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 37414553 37414553 T - DEL SULT6B1 ENST00000535679 human ensembl 74_37 -1 known frame_shift_del c.257 p.K86fs 0.944 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 26 0 0 61 10 14.0845 MSH2 0 genome.wustl.edu 37 2 47639588 47639588 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 47639588 47639588 A - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.681 p.A230fs 0.994 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_MSH2 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_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 46 0 0 98 12 10.9091 MTIF2 0 genome.wustl.edu 37 2 55467250 55467250 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 55467250 55467250 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.1767 p.G590fs 0.999 pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 44 0 0 57 10 14.9254 CCDC88A 0 genome.wustl.edu 37 2 55544436 55544436 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 55544436 55544436 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.3652 p.M1218fs 0.990 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 75 0 0 134 20 12.987 BCL11A 0 genome.wustl.edu 37 2 60780424 60780425 + RNA INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 60780424 60780425 - G INS BCL11A ENST00000409351 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors BCL11A HGNC ENSG00000119866 36 0 0 63 8 11.2676 PAPOLG 0 genome.wustl.edu 37 2 60995979 60995980 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 60995979 60995980 - T INS PAPOLG ENST00000238714 human ensembl 74_37 +1 known frame_shift_ins c.392_393 p.E134fs 1.000:0.997 pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 22 0 0 38 5 11.6279 ENSG00000226605 0 genome.wustl.edu 37 2 63053199 63053199 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 63053199 63053199 T - DEL ENSG00000226605 ENST00000452397 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors AC007098.1 Clone_based_vega_gene ENSG00000226605 30 0 0 52 11 17.4603 CEP68 0 genome.wustl.edu 37 2 65296702 65296702 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 65296702 65296702 C - DEL CEP68 ENST00000377990 human ensembl 74_37 +1 known frame_shift_del c.124 p.P43fs 0.760 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 68 0 0 70 18 20.4545 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 59 0 0 106 16 13.1148 AUP1 0 genome.wustl.edu 37 2 74754869 74754869 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 74754869 74754869 G - DEL AUP1 ENST00000377526 human ensembl 74_37 -1 known frame_shift_del c.835 p.Q279fs 0.954 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 321 0 0 331 42 11.2601 LOXL3 0 genome.wustl.edu 37 2 74763924 74763924 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 74763924 74763924 C - DEL LOXL3 ENST00000264094 human ensembl 74_37 -1 known frame_shift_del c.824 p.G275fs 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR 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 181 1 0.549451 132 35 20.9581 FAHD2A 0 genome.wustl.edu 37 2 96078466 96078466 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 96078466 96078466 C - DEL FAHD2A ENST00000233379 human ensembl 74_37 +1 known frame_shift_del c.836 p.P281fs 0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 53 0 0 53 6 10.1695 ANKRD36 0 genome.wustl.edu 37 2 97877449 97877449 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 2 97877449 97877449 A - DEL ANKRD36 ENST00000420699 human ensembl 74_37 +1 known frame_shift_del c.3440 p.K1149fs 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 19 0 0 28 4 12.5 RRBP1 0 genome.wustl.edu 37 20 17639535 17639536 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 17639535 17639536 - T INS RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_ins c.1618_1617 p.G539fs 0.152:0.163 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 116 0 0 231 31 11.8321 NKX2-2 0 genome.wustl.edu 37 20 21492611 21492611 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 21492611 21492611 G - DEL NKX2-2 ENST00000377142 human ensembl 74_37 -1 known frame_shift_del c.772 p.Q258fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 125 0 0 111 19 14.6154 CD93 0 genome.wustl.edu 37 20 23065518 23065518 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 23065518 23065518 G - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.1312 p.L438fs 0.004 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 208 0 0 236 22 8.52713 PCED1A 0 genome.wustl.edu 37 20 2816204 2816204 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 2816204 2816204 C - DEL PCED1A ENST00000360652 human ensembl 74_37 -1 known frame_shift_del c.1269 p.C425fs 0.001 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 92 0 0 99 12 10.8108 NCOA6 0 genome.wustl.edu 37 20 33346694 33346694 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 33346694 33346694 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.557 p.P186fs 0.996 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 82 0 0 133 19 12.5 CTNNBL1 0 genome.wustl.edu 37 20 36361416 36361416 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 36361416 36361416 A - DEL CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known frame_shift_del c.85 p.R31fs 1.000 pfam_CTNNBL1_N pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 51 0 0 44 14 24.1379 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 120 0 0 123 14 10.219 SIGLEC1 0 genome.wustl.edu 37 20 3678774 3678774 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 3678774 3678774 G - DEL SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known frame_shift_del c.1793 p.P598fs 0.998 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 15 0 0 23 3 11.5385 KIAA1755 0 genome.wustl.edu 37 20 36870054 36870054 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 36870054 36870054 T - DEL KIAA1755 ENST00000279024 human ensembl 74_37 -1 known frame_shift_del c.479 p.N160fs 0.002 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 134 0 0 138 31 18.3432 DDX27 0 genome.wustl.edu 37 20 47860464 47860465 + RNA INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 47860464 47860465 - A INS DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors DDX27 HGNC ENSG00000124228 21 0 0 20 3 13.0435 PMEPA1 0 genome.wustl.edu 37 20 56227349 56227349 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 56227349 56227349 G - DEL PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_del c.624 p.S209fs 0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 74 0 0 76 14 15.5556 VAPB 0 genome.wustl.edu 37 20 56993331 56993331 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 56993331 56993331 T - DEL VAPB ENST00000475243 human ensembl 74_37 +1 known frame_shift_del c.123 p.F42fs 0.951 pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPB HGNC ENSG00000124164 196 0 0 282 49 14.8036 BIRC7 0 genome.wustl.edu 37 20 61869290 61869290 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 20 61869290 61869290 G - DEL BIRC7 ENST00000217169 human ensembl 74_37 +1 known frame_shift_del c.385 p.G130fs 0.998 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 66 0 0 88 12 12 ADAMTS5 0 genome.wustl.edu 37 21 28306794 28306794 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 28306794 28306794 T - DEL ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known frame_shift_del c.1680 p.K560fs 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 77 0 0 120 21 14.8936 TIAM1 0 genome.wustl.edu 37 21 32493037 32493037 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 32493037 32493037 G - DEL TIAM1 ENST00000286827 human ensembl 74_37 -1 known frame_shift_del c.4425 p.G1476fs 0.845 NULL 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 136 0 0 121 14 10.3704 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 33074655 33074655 T - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 48 0 0 82 14 14.5833 C21orf59 0 genome.wustl.edu 37 21 33982209 33982209 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 33982209 33982209 T - DEL C21orf59 ENST00000290155 human ensembl 74_37 -1 known frame_shift_del c.246 p.K82fs 0.940 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 51 0 0 66 10 13.1579 GART 0 genome.wustl.edu 37 21 34882122 34882122 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 34882122 34882122 T - DEL GART ENST00000381815 human ensembl 74_37 -1 known frame_shift_del c.2420 p.K807fs 0.844 NULL 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 77 0 0 112 18 13.8462 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 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 79 0 0 97 20 17.094 SIK1 0 genome.wustl.edu 37 21 44836942 44836942 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 44836942 44836942 G - DEL SIK1 ENST00000270162 human ensembl 74_37 -1 known frame_shift_del c.2032 p.Q678fs 0.361 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 17 0 0 8 9 52.9412 ICOSLG 0 genome.wustl.edu 37 21 45655413 45655413 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 45655413 45655413 G - DEL ICOSLG ENST00000344330 human ensembl 74_37 -1 known frame_shift_del c.439 p.H147fs 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 161 0 0 224 38 14.5038 SUMO3 0 genome.wustl.edu 37 21 46233871 46233871 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 21 46233871 46233871 G - DEL SUMO3 ENST00000411651 human ensembl 74_37 -1 known frame_shift_del c.170 p.P57fs 0.000 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 110 0 0 92 15 14.0187 DGCR8 0 genome.wustl.edu 37 22 20094896 20094896 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 20094896 20094896 G - DEL DGCR8 ENST00000351989 human ensembl 74_37 +1 known frame_shift_del c.2099 p.R700fs 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 126 0 0 170 26 13.2653 ENSG00000272578 0 genome.wustl.edu 37 22 24034818 24034818 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 24034818 24034818 A - DEL ENSG00000272578 ENST00000417194 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AP000347.2 Clone_based_vega_gene ENSG00000272578 107 0 0 71 9 11.25 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 52 0 0 84 7 7.69231 FAM109B 0 genome.wustl.edu 37 22 42473376 42473377 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 42473376 42473377 - G INS FAM109B ENST00000321753 human ensembl 74_37 +1 known frame_shift_ins c.79_80 p.P31fs 0.979:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 153 0 0 183 24 11.5942 CYP2D6 0 genome.wustl.edu 37 22 42524948 42524949 + Splice_Site INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 42524948 42524949 - G INS CYP2D6 ENST00000360608 human ensembl 74_37 -1 known splice_site_ins c.506-3_506-2 e4-2 0.998:0.896 - - - no_errors CYP2D6 HGNC ENSG00000100197 11 0 0 10 5 33.3333 PPP6R2 0 genome.wustl.edu 37 22 50877036 50877036 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 50877036 50877036 C - DEL PPP6R2 ENST00000216061 human ensembl 74_37 +1 known frame_shift_del c.1973 p.H660fs 0.565 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 159 0 0 186 25 11.8483 ARSA 0 genome.wustl.edu 37 22 51065641 51065641 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 22 51065641 51065641 G - DEL ARSA ENST00000216124 human ensembl 74_37 -1 known frame_shift_del c.418 p.H140fs 0.982 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 36 0 0 34 6 15 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039737 + Frame_Shift_Del DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 100039736 100039737 AA - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939_1940 p.K649fs 1.000:1.000 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 45 0 0 79 14 15.0538 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 24 0 0 52 6 10.3448 KIAA1407 0 genome.wustl.edu 37 3 113729626 113729626 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 113729626 113729626 T - DEL KIAA1407 ENST00000295878 human ensembl 74_37 -1 known frame_shift_del c.1406 p.N469fs 0.001 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 134 0 0 205 37 15.2893 GOLGB1 0 genome.wustl.edu 37 3 121416803 121416804 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 121416803 121416804 - C INS GOLGB1 ENST00000340645 human ensembl 74_37 -1 known frame_shift_ins c.2552_2551 p.A851fs 0.000:0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 157 0 0 234 48 17.0213 PARP14 0 genome.wustl.edu 37 3 122418640 122418640 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 122418640 122418640 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.1239 p.N415fs 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 161 0 0 277 41 12.8931 ATP2C1 0 genome.wustl.edu 37 3 130649321 130649322 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 130649321 130649322 - A INS ATP2C1 ENST00000393221 human ensembl 74_37 +1 known frame_shift_ins c.170_171 p.A60fs 1.000:1.000 smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 73 0 0 116 15 11.4504 CEP63 0 genome.wustl.edu 37 3 134251733 134251733 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 134251733 134251733 A - DEL CEP63 ENST00000337090 human ensembl 74_37 +1 known frame_shift_del c.432 p.I146fs 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 74 0 0 117 12 9.30233 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 61 0 0 126 13 9.35252 ZBTB38 0 genome.wustl.edu 37 3 141162875 141162875 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 141162875 141162875 A - DEL ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_del c.1648 p.T552fs 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 54 0 0 111 14 11.2 SLC9A9 0 genome.wustl.edu 37 3 143567076 143567076 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 143567076 143567076 A - DEL SLC9A9 ENST00000316549 human ensembl 74_37 -1 known frame_shift_del c.89 p.L30fs 1.000 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 85 0 0 159 19 10.6742 P2RY13 0 genome.wustl.edu 37 3 151045875 151045875 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 151045875 151045875 T - DEL P2RY13 ENST00000325602 human ensembl 74_37 -1 known frame_shift_del c.969 p.K323fs 0.020 prints_P2Y13_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 98 0 0 191 12 5.91133 ARHGEF26 0 genome.wustl.edu 37 3 153840216 153840216 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 153840216 153840216 C - DEL ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known frame_shift_del c.435 p.P147fs 0.002 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 40 0 0 51 8 13.5593 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 42 0 0 90 8 8.16327 SI 0 genome.wustl.edu 37 3 164737393 164737394 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 164737393 164737394 - G INS SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_ins c.3420_3419 p.G1141fs 0.996:1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 69 0 0 117 16 12.0301 PDCD10 0 genome.wustl.edu 37 3 167414854 167414854 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 167414854 167414854 T - DEL PDCD10 ENST00000392750 human ensembl 74_37 -1 known frame_shift_del c.211 p.S71fs 1.000 pfam_DUF1241 pfam_DUF1241 - no_errors PDCD10 HGNC ENSG00000114209 61 0 0 141 9 6 FNDC3B 0 genome.wustl.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 172096209 172096210 - C INS FNDC3B ENST00000336824 human ensembl 74_37 +1 known frame_shift_ins c.3158_3159 p.T1056fs 0.971:0.958 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 82 0 0 120 12 9.09091 EPHB3 0 genome.wustl.edu 37 3 184295717 184295718 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 184295717 184295718 - C INS EPHB3 ENST00000330394 human ensembl 74_37 +1 known frame_shift_ins c.1671_1672 p.L558fs 0.097:1.000 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 92 0 0 127 16 11.1888 LIPH 0 genome.wustl.edu 37 3 185237031 185237032 + Frame_Shift_Del DEL CT CT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 185237031 185237032 CT - DEL LIPH ENST00000296252 human ensembl 74_37 -1 known frame_shift_del c.785_784 p.S262fs 0.031:0.003 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 123 0 0 193 20 9.38967 LSG1 0 genome.wustl.edu 37 3 194362829 194362829 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 194362829 194362829 T - DEL LSG1 ENST00000265245 human ensembl 74_37 -1 known frame_shift_del c.1945 p.S649fs 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 159 0 0 198 32 13.913 THRB 0 genome.wustl.edu 37 3 24206519 24206519 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 24206519 24206519 T - DEL THRB ENST00000280696 human ensembl 74_37 -1 putative frame_shift_del c.327 p.Y111fs 1.000 prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 56 0 0 73 12 14.1176 VILL 0 genome.wustl.edu 37 3 38039624 38039625 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38039624 38039625 - C INS VILL ENST00000283713 human ensembl 74_37 +1 known frame_shift_ins c.808_809 p.L273fs 0.589:0.638 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 39 0 0 32 8 20 ACAA1 0 genome.wustl.edu 37 3 38163760 38163760 + RNA DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38163760 38163760 C - DEL ACAA1 ENST00000451419 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors ACAA1 HGNC ENSG00000060971 143 0 0 140 21 13.0435 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 62 0 0 91 14 13.3333 SETMAR 0 genome.wustl.edu 37 3 4354867 4354867 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 4354867 4354867 A - DEL SETMAR ENST00000358065 human ensembl 74_37 +1 known frame_shift_del c.442 p.G150fs 0.001 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 50 0 0 81 9 10 KLHDC8B 0 genome.wustl.edu 37 3 49210244 49210244 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 49210244 49210244 C - DEL KLHDC8B ENST00000332780 human ensembl 74_37 +1 known frame_shift_del c.42 p.M17fs 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 56 0 0 54 16 22.8571 STAB1 0 genome.wustl.edu 37 3 52546401 52546401 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 52546401 52546401 C - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.2928 p.P978fs 0.997 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 188 0 0 233 25 9.68992 GLT8D1 0 genome.wustl.edu 37 3 52731827 52731828 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 52731827 52731828 - C INS GLT8D1 ENST00000266014 human ensembl 74_37 -1 known frame_shift_ins c.239_238 p.A80fs 1.000:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 99 0 0 152 22 12.6437 PDZRN3 0 genome.wustl.edu 37 3 73437221 73437222 + Splice_Site INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 73437221 73437222 - T INS PDZRN3 ENST00000263666 human ensembl 74_37 -1 known splice_site_ins c.1417-2_1417-1 e8-1 1.000:1.000 - - - no_errors PDZRN3 HGNC ENSG00000121440 113 0 0 150 19 11.2426 ARL13B 0 genome.wustl.edu 37 3 93755447 93755447 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 93755447 93755447 A - DEL ARL13B ENST00000394222 human ensembl 74_37 +1 known frame_shift_del c.538 p.G182fs 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 56 0 0 119 15 11.194 FILIP1L 0 genome.wustl.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 3 99568273 99568273 T - DEL FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_del c.2247 p.K749fs 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 119 1 0.833333 144 26 15.2941 BANK1 0 genome.wustl.edu 37 4 102951317 102951317 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 102951317 102951317 A - DEL BANK1 ENST00000322953 human ensembl 74_37 +1 known frame_shift_del c.1795 p.T601fs 0.978 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 94 0 0 155 26 14.3646 ZNF518B 0 genome.wustl.edu 37 4 10446745 10446746 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 10446745 10446746 - T INS ZNF518B ENST00000326756 human ensembl 74_37 -1 known frame_shift_ins c.1208_1207 p.T403fs 0.086:0.085 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 126 0 0 234 41 14.9091 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 26 0 0 36 6 14.2857 LARP1B 0 genome.wustl.edu 37 4 129028358 129028358 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 129028358 129028358 A - DEL LARP1B ENST00000326639 human ensembl 74_37 +1 known frame_shift_del c.878 p.K294fs 1.000 pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 42 0 0 57 8 12.3077 SH3RF1 0 genome.wustl.edu 37 4 170037648 170037650 + In_Frame_Del DEL CAT CAT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 170037648 170037650 CAT - DEL SH3RF1 ENST00000284637 human ensembl 74_37 -1 known in_frame_del c.1911_1909 p.M637in_frame_del 0.013:0.015:0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 73 0 0 79 9 10.2273 GPM6A 0 genome.wustl.edu 37 4 176573029 176573031 + In_Frame_Del DEL GTG GTG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 176573029 176573031 GTG - DEL GPM6A ENST00000280187 human ensembl 74_37 -1 known in_frame_del c.497_495 p.T166in_frame_del 1.000:1.000:0.978 pfam_Myelin_PLP,smart_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 106 0 0 113 14 11.0236 WHSC1 0 genome.wustl.edu 37 4 1980485 1980485 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 1980485 1980485 C - DEL WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_del c.3947 p.P1317fs 0.025 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 70 0 0 99 9 8.33333 HAUS3 0 genome.wustl.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 2242634 2242634 T - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_del c.40 p.I14fs 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 53 0 0 103 13 11.2069 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 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 22 0 0 18 4 18.1818 RFC1 0 genome.wustl.edu 37 4 39304169 39304169 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 39304169 39304169 G - DEL RFC1 ENST00000381897 human ensembl 74_37 -1 known frame_shift_del c.2390 p.P797fs 1.000 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 56 0 0 75 13 14.7727 OCIAD1 0 genome.wustl.edu 37 4 48859372 48859372 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 48859372 48859372 A - DEL OCIAD1 ENST00000264312 human ensembl 74_37 +1 known frame_shift_del c.690 p.E233fs 0.300 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 77 0 0 111 13 10.4839 UGT2B7 0 genome.wustl.edu 37 4 69962562 69962562 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 69962562 69962562 T - DEL UGT2B7 ENST00000305231 human ensembl 74_37 +1 known frame_shift_del c.324 p.S110fs 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 72 0 0 67 11 14.1026 EPGN 0 genome.wustl.edu 37 4 75178863 75178863 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 75178863 75178863 T - DEL EPGN ENST00000413830 human ensembl 74_37 +1 known frame_shift_del c.383 p.Y130fs 0.897 NULL pfscan_EG-like_dom - no_errors EPGN HGNC ENSG00000182585 29 0 0 75 10 11.7647 SHROOM3 0 genome.wustl.edu 37 4 77675979 77675979 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 77675979 77675979 C - DEL SHROOM3 ENST00000296043 human ensembl 74_37 +1 known frame_shift_del c.4343 p.P1449fs 0.008 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 61 0 0 61 11 15.2778 AFAP1-AS1 0 genome.wustl.edu 37 4 7776640 7776640 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 7776640 7776640 A - DEL AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 89 0 0 141 18 11.3208 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 19 0 0 33 3 8.33333 C4orf22 0 genome.wustl.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 81791254 81791254 A - DEL C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_del c.492 p.R167fs 0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 88 0 0 151 29 16.1111 ENSG00000227304 0 genome.wustl.edu 37 4 83416686 83416686 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 83416686 83416686 T - DEL ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.914 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 13 0 0 16 4 20 PTPN13 0 genome.wustl.edu 37 4 87622607 87622607 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 4 87622607 87622607 A - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.848 p.K285fs 0.941 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 34 0 0 54 9 14.2857 PPIP5K2 0 genome.wustl.edu 37 5 102537308 102537309 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 102537308 102537309 - A INS PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known frame_shift_ins c.3705_3706 p.N1237fs 0.977:0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 25 0 0 56 4 6.66667 CTNND2 0 genome.wustl.edu 37 5 11384949 11384949 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 11384949 11384949 G - DEL CTNND2 ENST00000304623 human ensembl 74_37 -1 known frame_shift_del c.1005 p.T336fs 0.973 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 47 0 0 48 9 15.7895 FBN2 0 genome.wustl.edu 37 5 127611764 127611764 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 127611764 127611764 C - DEL FBN2 ENST00000262464 human ensembl 74_37 -1 known frame_shift_del c.7560 p.Y2521fs 0.002 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 148 0 0 230 24 9.44882 SLC27A6 0 genome.wustl.edu 37 5 128368800 128368800 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 128368800 128368800 A - DEL SLC27A6 ENST00000262462 human ensembl 74_37 +1 known frame_shift_del c.1685 p.M564fs 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 14 0 0 28 4 12.5 PCDHA3 0 genome.wustl.edu 37 5 140181371 140181371 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140181371 140181371 A - DEL PCDHA3 ENST00000522353 human ensembl 74_37 +1 known frame_shift_del c.589 p.N199fs 0.987 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 PCDHA3 HGNC ENSG00000255408 62 0 0 106 25 19.084 PCDHB4 0 genome.wustl.edu 37 5 140502487 140502487 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 140502487 140502487 A - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.907 p.K305fs 0.078 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 PCDHB4 HGNC ENSG00000081818 186 0 0 259 51 16.4516 TCERG1 0 genome.wustl.edu 37 5 145887465 145887465 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 145887465 145887465 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2940 p.I983fs 0.686 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 32 0 0 48 9 15.7895 SLC36A1 0 genome.wustl.edu 37 5 150847389 150847389 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 150847389 150847389 T - DEL SLC36A1 ENST00000243389 human ensembl 74_37 +1 known frame_shift_del c.626 p.F210fs 0.979 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 142 0 0 174 33 15.942 SGCD 0 genome.wustl.edu 37 5 156022056 156022056 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 156022056 156022056 T - DEL SGCD ENST00000337851 human ensembl 74_37 +1 known frame_shift_del c.497 p.L167fs 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 11 0 0 43 8 15.6863 EBF1 0 genome.wustl.edu 37 5 158526597 158526597 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 158526597 158526597 T - DEL EBF1 ENST00000518836 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors EBF1 HGNC ENSG00000164330 17 0 0 20 8 28.5714 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 203 0 0 236 74 23.871 NKX2-5 0 genome.wustl.edu 37 5 172659921 172659921 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 172659921 172659921 G - DEL NKX2-5 ENST00000329198 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 31 0 0 15 3 16.6667 EGFLAM 0 genome.wustl.edu 37 5 38407028 38407028 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 38407028 38407028 C - DEL EGFLAM ENST00000354891 human ensembl 74_37 +1 known frame_shift_del c.927 p.P311fs 0.000 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 142 0 0 261 27 9.375 PPWD1 0 genome.wustl.edu 37 5 64867924 64867925 + Frame_Shift_Ins INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 64867924 64867925 - A INS PPWD1 ENST00000261308 human ensembl 74_37 +1 known frame_shift_ins c.780_781 p.N261fs 0.270:0.764 superfamily_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 69 0 0 115 20 14.8148 MAST4 0 genome.wustl.edu 37 5 66386023 66386023 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 5 66386023 66386023 C - DEL MAST4 ENST00000404260 human ensembl 74_37 +1 known frame_shift_del c.797 p.S268fs 1.000 pfam_MA_Ser/Thr_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 MAST4 HGNC ENSG00000069020 17 0 0 68 9 11.6883 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 119 0 0 185 30 13.9535 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 102 0 0 130 22 14.4737 BEND3 0 genome.wustl.edu 37 6 107391602 107391602 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 107391602 107391602 C - DEL BEND3 ENST00000369042 human ensembl 74_37 -1 known frame_shift_del c.793 p.D265fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 61 0 0 50 25 33.3333 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 29 0 0 26 12 31.5789 MARCKS 0 genome.wustl.edu 37 6 114181729 114181730 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 114181729 114181730 - C INS MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_ins c.973_974 p.A328fs 1.000:0.999 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 106 0 0 166 26 13.5417 NT5DC1 0 genome.wustl.edu 37 6 116560165 116560165 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 116560165 116560165 T - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.1131 p.F379fs 0.996 superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 72 0 0 144 19 11.6564 ARHGAP18 0 genome.wustl.edu 37 6 129901238 129901238 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 129901238 129901238 A - DEL ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_del c.1877 p.L626fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 40 0 0 58 9 13.4328 MED23 0 genome.wustl.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 131919846 131919846 T - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2294 p.N765fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 75 0 0 132 17 11.4094 ENSG00000235381 0 genome.wustl.edu 37 6 155575538 155575539 + RNA INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 155575538 155575539 - C INS ENSG00000235381 ENST00000435295 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 54 0 0 41 14 25.4545 DTNBP1 0 genome.wustl.edu 37 6 15651580 15651580 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 15651580 15651580 A - DEL DTNBP1 ENST00000355917 human ensembl 74_37 -1 known frame_shift_del c.125 p.L42fs 1.000 NULL pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 133 0 0 255 35 12.069 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 98 0 0 105 21 16.6667 TULP4 0 genome.wustl.edu 37 6 158900956 158900957 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 158900956 158900957 - C INS TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_ins c.1200_1201 p.R402fs 1.000:1.000 pfam_SOCS_C,superfamily_Tumour_necrosis_fac-like_dom,smart_SOCS_C,pfscan_SOCS_C pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 96 0 0 64 6 8.57143 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 58 0 0 36 15 29.4118 KIF13A 0 genome.wustl.edu 37 6 17788022 17788023 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 17788022 17788023 - T INS KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_ins c.3346_3345 p.V1115fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 73 0 0 144 30 17.2414 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 30 0 0 58 11 15.942 HLA-B 0 genome.wustl.edu 37 6 31323362 31323363 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 31323362 31323363 - G INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.T211fs 0.002:0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 251 0 0 269 48 15.142 HLA-B 0 genome.wustl.edu 37 6 31324889 31324890 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 31324889 31324890 - C INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.47_46 p.A16fs 0.079:0.024 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 25 0 0 17 2 10.5263 GPANK1 0 genome.wustl.edu 37 6 31630313 31630314 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 31630313 31630314 - C INS GPANK1 ENST00000375893 human ensembl 74_37 -1 known frame_shift_ins c.801_800 p.W268fs 1.000:1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 77 0 0 76 13 14.6067 PBX2 0 genome.wustl.edu 37 6 32157563 32157563 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 32157563 32157563 C - DEL PBX2 ENST00000375050 human ensembl 74_37 -1 known frame_shift_del c.130 p.V44fs 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 51 0 0 72 7 8.86076 BRD2 0 genome.wustl.edu 37 6 32945969 32945970 + Frame_Shift_Del DEL AG AG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 32945969 32945970 AG - DEL BRD2 ENST00000395289 human ensembl 74_37 +1 known frame_shift_del c.1645_1646 p.K552fs 1.000:1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 89 0 0 77 16 17.2043 UHRF1BP1 0 genome.wustl.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 34839369 34839369 C - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.3990 p.I1333fs 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 91 0 0 99 13 11.6071 TCP11 0 genome.wustl.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 35108559 35108560 - G INS TCP11 ENST00000311875 human ensembl 74_37 -1 known frame_shift_ins c.128_127 p.Q43fs 0.000:0.004 NULL pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 50 0 0 56 7 11.1111 CUL9 0 genome.wustl.edu 37 6 43166564 43166566 + In_Frame_Del DEL CAA CAA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 43166564 43166566 CAA - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known in_frame_del c.3021_3023 p.N1008in_frame_del 0.998:0.997:0.987 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 96 0 0 78 15 16.129 PLA2G7 0 genome.wustl.edu 37 6 46677134 46677134 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 46677134 46677134 T - DEL PLA2G7 ENST00000274793 human ensembl 74_37 -1 known frame_shift_del c.799 p.I267fs 0.996 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 57 0 0 128 12 8.57143 GPR110 0 genome.wustl.edu 37 6 46977322 46977322 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 46977322 46977322 T - DEL GPR110 ENST00000371253 human ensembl 74_37 -1 known frame_shift_del c.1849 p.S617fs 0.309 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 54 0 0 58 14 19.4444 GCM1 0 genome.wustl.edu 37 6 52999110 52999110 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 52999110 52999110 T - DEL GCM1 ENST00000259803 human ensembl 74_37 -1 known frame_shift_del c.88 p.T30fs 0.969 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 98 0 0 137 20 12.7389 HCRTR2 0 genome.wustl.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 55039411 55039411 C - DEL HCRTR2 ENST00000370862 human ensembl 74_37 +1 known frame_shift_del c.26 p.P11fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 181 0 0 219 34 13.4387 DST 0 genome.wustl.edu 37 6 56374465 56374465 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 56374465 56374465 C - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.18894 p.T6299fs 0.027 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 70 0 0 76 7 8.43373 FAM135A 0 genome.wustl.edu 37 6 71235776 71235776 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 71235776 71235776 A - DEL FAM135A ENST00000418814 human ensembl 74_37 +1 known frame_shift_del c.2989 p.N999fs 0.027 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 34 0 0 57 8 12.3077 SMAP1 0 genome.wustl.edu 37 6 71508370 71508371 + Frame_Shift_Del DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 71508370 71508371 AA - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506_507 p.K172fs 1.000:1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 12 0 0 15 4 21.0526 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 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 52 0 0 67 7 9.45946 SNAP91 0 genome.wustl.edu 37 6 84269853 84269853 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 84269853 84269853 G - DEL SNAP91 ENST00000369694 human ensembl 74_37 -1 known frame_shift_del c.2601 p.F868fs 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 103 0 0 125 20 13.7931 SNHG5 0 genome.wustl.edu 37 6 86387037 86387037 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 86387037 86387037 T - DEL SNHG5 ENST00000384338 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SNHG5 HGNC ENSG00000203875 62 0 0 104 21 16.8 MANEA 0 genome.wustl.edu 37 6 96034870 96034871 + Frame_Shift_Del DEL TA TA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 6 96034870 96034871 TA - DEL MANEA ENST00000369293 human ensembl 74_37 +1 known frame_shift_del c.555_556 p.Y189fs 0.026:0.048 NULL NULL - no_errors MANEA HGNC ENSG00000172469 61 0 0 88 13 12.8713 PLOD3 0 genome.wustl.edu 37 7 100855926 100855927 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 100855926 100855927 - G INS PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.R297fs 1.000:1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 76 0 0 86 10 10.4167 CUX1 0 genome.wustl.edu 37 7 101839973 101839974 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 135 0 0 183 23 11.165 LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 78 0 0 94 29 23.5772 IFRD1 0 genome.wustl.edu 37 7 112108038 112108039 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 112108038 112108039 - T INS IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_ins c.909_910 p.Y305fs 1.000:1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 54 0 0 88 17 16.1905 SND1 0 genome.wustl.edu 37 7 127724828 127724828 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 127724828 127724828 C - DEL SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_del c.2163 p.P723fs 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 80 0 0 82 23 21.9048 AKR1B10 0 genome.wustl.edu 37 7 134222396 134222396 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 134222396 134222396 A - DEL AKR1B10 ENST00000359579 human ensembl 74_37 +1 known frame_shift_del c.724 p.T244fs 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 161 0 0 137 28 16.9697 SLC4A2 0 genome.wustl.edu 37 7 150761764 150761764 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 150761764 150761764 G - DEL SLC4A2 ENST00000413384 human ensembl 74_37 +1 known frame_shift_del c.369 p.E125fs 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 54 0 0 56 15 21.1268 KMT2C 0 genome.wustl.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 151845524 151845524 A - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13659 p.F4553fs 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING 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 134 0 0 211 35 14.2276 TMEM184A 0 genome.wustl.edu 37 7 1589528 1589530 + In_Frame_Del DEL GAT GAT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 1589528 1589530 GAT - DEL TMEM184A ENST00000297477 human ensembl 74_37 -1 known in_frame_del c.606_604 p.I202in_frame_del 1.000:1.000:0.956 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 145 0 0 123 18 12.766 NUPL2 0 genome.wustl.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 23224772 23224773 - G INS NUPL2 ENST00000258742 human ensembl 74_37 +1 known frame_shift_ins c.205_206 p.S72fs 0.997:1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 99 0 0 147 20 11.976 HOXA3 0 genome.wustl.edu 37 7 27147961 27147962 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 27147961 27147962 - G INS HOXA3 ENST00000317201 human ensembl 74_37 -1 known frame_shift_ins c.905_904 p.Q302fs 0.997:0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 48 0 0 46 13 22.0339 GPR141 0 genome.wustl.edu 37 7 37780671 37780671 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 37780671 37780671 A - DEL GPR141 ENST00000334425 human ensembl 74_37 +1 known frame_shift_del c.676 p.N227fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 140 0 0 220 32 12.6984 FOXK1 0 genome.wustl.edu 37 7 4798983 4798983 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 4798983 4798983 C - DEL FOXK1 ENST00000328914 human ensembl 74_37 +1 known frame_shift_del c.1453 p.R486fs 0.995 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 36 0 0 40 4 9.09091 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 50531075 50531075 T - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.1297 p.I433fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 83 0 0 126 19 13.1034 INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 31 0 0 57 8 12.3077 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 27 0 0 30 14 31.8182 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 52 0 0 67 13 16.25 SAMD9L 0 genome.wustl.edu 37 7 92762979 92762979 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 92762979 92762979 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.2306 p.N769fs 1.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 121 0 0 192 36 15.7895 SAMD9L 0 genome.wustl.edu 37 7 92763654 92763654 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 92763654 92763654 A - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.1631 p.L544fs 0.924 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 35 0 0 65 10 13.3333 ZKSCAN1 0 genome.wustl.edu 37 7 99631749 99631750 + Frame_Shift_Del DEL AG AG - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 7 99631749 99631750 AG - DEL ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known frame_shift_del c.1621_1622 p.R543fs 0.322:0.996 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 201 1 0.49505 184 27 12.7962 NACAP1 0 genome.wustl.edu 37 8 102381883 102381884 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 102381883 102381884 AA - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879:0.891 - - - no_errors NACAP1 HGNC ENSG00000228224 16 0 0 30 9 23.0769 SOX7 0 genome.wustl.edu 37 8 10583952 10583952 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 10583952 10583952 C - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.619 p.A207fs 0.588 NULL 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 58 0 0 34 5 12.8205 TAF2 0 genome.wustl.edu 37 8 120816158 120816159 + Frame_Shift_Del DEL CT CT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 120816158 120816159 CT - DEL TAF2 ENST00000378164 human ensembl 74_37 -1 known frame_shift_del c.520_519 p.G174fs 1.000:1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 193 0 0 337 53 13.5897 PLEC 0 genome.wustl.edu 37 8 144991222 144991223 + In_Frame_Ins INS - - AGG TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 144991222 144991223 - AGG INS PLEC ENST00000322810 human ensembl 74_37 -1 known in_frame_ins c.13178_13177 p.4393in_frame_insS 1.000:1.000 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 117 0 0 144 13 8.28025 ENSG00000204791 0 genome.wustl.edu 37 8 145106384 145106384 + RNA DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145106384 145106384 G - DEL ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 27 0 0 27 4 12.9032 SLC52A2 0 genome.wustl.edu 37 8 145583737 145583739 + In_Frame_Del DEL CTT CTT - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145583737 145583739 CTT - DEL SLC52A2 ENST00000329994 human ensembl 74_37 +1 known in_frame_del c.585_587 p.F197in_frame_del 0.536:0.997:1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 156 0 0 200 18 8.25688 ZNF34 0 genome.wustl.edu 37 8 145998752 145998752 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 145998752 145998752 C - DEL ZNF34 ENST00000343459 human ensembl 74_37 -1 known frame_shift_del c.1582 p.E528fs 0.988 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 ZNF34 HGNC ENSG00000196378 176 0 0 225 28 11.0672 SLC7A2 0 genome.wustl.edu 37 8 17409402 17409402 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 17409402 17409402 A - DEL SLC7A2 ENST00000004531 human ensembl 74_37 +1 known frame_shift_del c.1082 p.S363fs 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 122 0 0 166 30 15.3061 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 40 0 0 49 14 22.2222 PRKDC 0 genome.wustl.edu 37 8 48701554 48701555 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 48701554 48701555 - T INS PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_ins c.10812_10811 p.N3604fs 0.004:0.000 NULL 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 61 0 0 107 18 14.4 ERICH1 0 genome.wustl.edu 37 8 623865 623865 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 623865 623865 T - DEL ERICH1 ENST00000262109 human ensembl 74_37 -1 known frame_shift_del c.487 p.R163fs 0.988 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 57 0 0 76 14 15.5556 SBSPON 0 genome.wustl.edu 37 8 73982108 73982109 + Frame_Shift_Del DEL CA CA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 73982108 73982109 CA - DEL SBSPON ENST00000297354 human ensembl 74_37 -1 known frame_shift_del c.609_608 p.V203fs 0.763:0.998 NULL superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt - no_errors SBSPON HGNC ENSG00000164764 71 0 0 90 13 12.6214 JPH1 0 genome.wustl.edu 37 8 75227676 75227676 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 75227676 75227676 C - DEL JPH1 ENST00000342232 human ensembl 74_37 -1 known frame_shift_del c.559 p.A187fs 0.960 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 70 0 0 64 7 9.85915 ZBTB10 0 genome.wustl.edu 37 8 81399872 81399872 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 8 81399872 81399872 A - DEL ZBTB10 ENST00000430430 human ensembl 74_37 +1 known frame_shift_del c.827 p.K277fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 52 0 0 55 10 15.3846 ALG2 0 genome.wustl.edu 37 9 101980272 101980272 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 101980272 101980272 A - DEL ALG2 ENST00000476832 human ensembl 74_37 -1 known frame_shift_del c.1195 p.S399fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 80 0 0 135 17 11.1842 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 55 0 0 112 15 11.811 CNTRL 0 genome.wustl.edu 37 9 123924525 123924525 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 123924525 123924525 A - DEL CNTRL ENST00000238341 human ensembl 74_37 +1 known frame_shift_del c.5399 p.K1802fs 1.000 superfamily_tRNA-bd_arm pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 61 0 0 110 21 16.0305 GSN 0 genome.wustl.edu 37 9 124074857 124074857 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 124074857 124074857 A - DEL GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSN HGNC ENSG00000148180 10 0 0 6 7 53.8462 SLC2A8 0 genome.wustl.edu 37 9 130162220 130162220 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 130162220 130162220 G - DEL SLC2A8 ENST00000373371 human ensembl 74_37 +1 known frame_shift_del c.461 p.L156fs 1.000 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 120 0 0 163 15 8.42697 CRAT 0 genome.wustl.edu 37 9 131857690 131857690 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 131857690 131857690 G - DEL CRAT ENST00000318080 human ensembl 74_37 -1 known frame_shift_del c.1867 p.R623fs 0.020 NULL pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 90 0 0 79 15 15.9574 FNBP1 0 genome.wustl.edu 37 9 132687243 132687243 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 132687243 132687243 T - DEL FNBP1 ENST00000446176 human ensembl 74_37 -1 known frame_shift_del c.983 p.N328fs 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 22 0 0 27 7 20.5882 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 18 0 0 21 11 34.375 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 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 20 0 0 13 3 18.75 COL5A1 0 genome.wustl.edu 37 9 137676834 137676834 + Splice_Site DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 137676834 137676834 G - DEL COL5A1 ENST00000371817 human ensembl 74_37 +1 known splice_site_del c.2485-1 e30-1 1.000 - - - no_errors COL5A1 HGNC ENSG00000130635 77 0 0 89 14 13.5922 RNF208 0 genome.wustl.edu 37 9 140115423 140115424 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 140115423 140115424 - C INS RNF208 ENST00000391553 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.D81fs 0.993:0.997 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 10 0 0 9 4 30.7692 MIR602 0 genome.wustl.edu 37 9 140732961 140732961 + RNA DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 140732961 140732961 C - DEL MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors MIR602 HGNC ENSG00000207693 108 0 0 117 27 18.75 PTPLAD2 0 genome.wustl.edu 37 9 21007046 21007046 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 21007046 21007046 T - DEL PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known frame_shift_del c.689 p.K230fs 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 64 0 0 118 20 14.4928 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 65 0 0 89 17 16.0377 ALDH1A1 0 genome.wustl.edu 37 9 75545894 75545894 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 75545894 75545894 A - DEL ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known frame_shift_del c.213 p.Q72fs 0.983 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 96 0 0 126 27 17.6471 ASPN 0 genome.wustl.edu 37 9 95236979 95236979 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 95236979 95236979 A - DEL ASPN ENST00000375544 human ensembl 74_37 -1 known frame_shift_del c.201 p.P68fs 0.936 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 ASPN HGNC ENSG00000106819 57 0 0 86 11 11.3402 PTCH1 0 genome.wustl.edu 37 9 98209617 98209617 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 98209617 98209617 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3921 p.R1308fs 0.441 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 150 0 0 152 27 15.0838 PTCH1 0 genome.wustl.edu 37 9 98268793 98268793 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 98268793 98268793 T - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.290 p.N97fs 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 85 0 0 101 18 15.1261 ERCC6L2 0 genome.wustl.edu 37 9 98683572 98683572 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e 9 98683572 98683572 A - DEL ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known frame_shift_del c.740 p.R249fs 0.786 pfam_SNF2_N,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 68 0 0 99 13 11.6071 TAF7L 0 genome.wustl.edu 37 X 100530216 100530217 + Frame_Shift_Ins INS - - T TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 100530216 100530217 - T INS TAF7L ENST00000372907 human ensembl 74_37 -1 known frame_shift_ins c.1338_1337 p.N446fs 0.515:0.449 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 229 0 0 341 47 12.1134 ARMCX1 0 genome.wustl.edu 37 X 100809163 100809163 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 100809163 100809163 T - DEL ARMCX1 ENST00000372829 human ensembl 74_37 +1 known frame_shift_del c.1250 p.F419fs 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 74 0 0 132 21 13.7255 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138439 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 101138439 101138439 T - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 40 0 0 41 18 30.5085 BHLHB9 0 genome.wustl.edu 37 X 102003967 102003967 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 102003967 102003967 A - DEL BHLHB9 ENST00000361229 human ensembl 74_37 +1 known frame_shift_del c.44 p.K17fs 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 189 1 0.526316 169 25 12.8866 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 49 0 0 96 13 11.9266 COL4A5 0 genome.wustl.edu 37 X 107834822 107834822 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 107834822 107834822 C - DEL COL4A5 ENST00000328300 human ensembl 74_37 +1 known frame_shift_del c.1371 p.P459fs 0.765 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 242 1 0.411523 314 35 10.0287 BCORL1 0 genome.wustl.edu 37 X 129147854 129147854 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 129147854 129147854 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.1106 p.T371fs 0.770 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 14 0 0 4 2 33.3333 CCDC160 0 genome.wustl.edu 37 X 133378875 133378875 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 133378875 133378875 T - DEL CCDC160 ENST00000370809 human ensembl 74_37 +1 known frame_shift_del c.45 p.F17fs 0.398 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 18 0 0 27 7 20.5882 PNMA3 0 genome.wustl.edu 37 X 152225666 152225667 + Frame_Shift_Ins INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 152225666 152225667 - G INS PNMA3 ENST00000370264 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.P88fs 0.007:0.011 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 160 0 0 137 20 12.7389 L1CAM 0 genome.wustl.edu 37 X 153132296 153132296 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 153132296 153132296 G - DEL L1CAM ENST00000543994 human ensembl 74_37 -1 known frame_shift_del c.2245 p.Q749fs 0.247 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 83 0 0 61 12 16.4384 SLC10A3 0 genome.wustl.edu 37 X 153716473 153716473 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 153716473 153716473 C - DEL SLC10A3 ENST00000263512 human ensembl 74_37 -1 known frame_shift_del c.807 p.S270fs 0.974 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 155 0 0 130 19 12.7517 FAM3A 0 genome.wustl.edu 37 X 153735823 153735824 + Splice_Site INS - - G TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 153735823 153735824 - G INS FAM3A ENST00000359889 human ensembl 74_37 -1 known splice_site_ins c.386-3_386-2 e7-2 0.999:0.587 - - - no_errors FAM3A HGNC ENSG00000071889 61 0 0 40 6 13.0435 SYAP1 0 genome.wustl.edu 37 X 16754325 16754325 + Frame_Shift_Del DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 16754325 16754325 T - DEL SYAP1 ENST00000380155 human ensembl 74_37 +1 known frame_shift_del c.331 p.F111fs 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 56 0 0 107 16 13.0081 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 173 0 0 259 33 11.3014 SHROOM4 0 genome.wustl.edu 37 X 50556963 50556964 + Frame_Shift_Ins INS - - C TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 50556963 50556964 - C INS SHROOM4 ENST00000289292 human ensembl 74_37 -1 known frame_shift_ins c.56_55 p.A19fs 0.999:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 37 0 0 48 6 11.1111 TAF1 0 genome.wustl.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 70603000 70603000 A - DEL TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_del c.1930 p.K646fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 55 0 0 87 12 12.1212 XIST 0 genome.wustl.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 73047124 73047125 AC - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors XIST HGNC ENSG00000229807 152 0 0 201 32 13.7339 XIST 0 genome.wustl.edu 37 X 73070114 73070114 + RNA DEL A A - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 73070114 73070114 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ENSG00000229807 28 0 0 31 6 16.2162 PGK1 0 genome.wustl.edu 37 X 77380774 77380774 + RNA DEL T T - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 77380774 77380774 T - DEL PGK1 ENST00000476531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC ENSG00000102144 39 0 0 47 10 17.5439 SATL1 0 genome.wustl.edu 37 X 84362677 84362677 + Frame_Shift_Del DEL G G - TCGA-BR-8363-01A-11D-2340-08 TCGA-BR-8363-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9 125f7197-7b54-4623-bad0-b0fbd39af62e X 84362677 84362677 G - DEL SATL1 ENST00000509231 human ensembl 74_37 -1 known frame_shift_del c.1298 p.P433fs 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 290 0 0 306 49 13.8028