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 C1orf194 0 genome.wustl.edu 37 1 109650650 109650650 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 109650650 109650650 A T SNP C1orf194 ENST00000369948 human ensembl 74_37 -1 known missense c.91 p.Y31N 0.002 pfam_DUF3695 pfam_DUF3695 - no_errors C1orf194 HGNC ENSG00000179902 81 0 0 59 4 6.34921 PRAMEF10 0 genome.wustl.edu 37 1 12955434 12955434 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 12955434 12955434 A T SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.245 p.L82Q 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 55 0 0 42 3 6.66667 NBPF10 0 genome.wustl.edu 37 1 145367739 145367739 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 145367739 145367739 A G SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known silent c.10335 p.K3445 0.002 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 36 0 0 60 4 6.25 GJA8 0 genome.wustl.edu 37 1 147381267 147381267 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 147381267 147381267 G T SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known silent c.1185 p.G395 0.191 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 36 0 0 37 4 9.7561 FLG2 0 genome.wustl.edu 37 1 152323733 152323733 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 152323733 152323733 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.6529 p.R2177G 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 308 0 0 327 48 12.8 CD1E 0 genome.wustl.edu 37 1 158324045 158324045 + RNA SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 158324045 158324045 A C SNP CD1E ENST00000464822 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD1E HGNC ENSG00000158488 13 0 0 18 5 21.7391 CD1E 0 genome.wustl.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 158324361 158324361 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.253 p.F85V 0.879 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 35 0 0 35 3 7.89474 LOC100131825 0 genome.wustl.edu 37 1 159170731 159170731 + RNA SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 159170731 159170731 T G SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 39 0 0 21 15 41.6667 DUSP23 0 genome.wustl.edu 37 1 159752111 159752111 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 159752111 159752111 T G SNP DUSP23 ENST00000368107 human ensembl 74_37 +1 known missense c.436 p.Y146D 1.000 smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors DUSP23 HGNC ENSG00000158716 58 0 0 36 11 23.4043 NR5A2 0 genome.wustl.edu 37 1 200090021 200090021 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 200090021 200090021 G A SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.1316 p.R439H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 101 0 0 103 19 15.5738 IGFN1 0 genome.wustl.edu 37 1 201185695 201185695 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 201185695 201185695 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.9409 p.V3137M 0.049 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 25 0 0 18 10 35.7143 C4BPA 0 genome.wustl.edu 37 1 207317917 207317917 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 207317917 207317917 T C SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known missense c.1649 p.L550P 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 58 0 0 73 51 41.129 OR2B11 0 genome.wustl.edu 37 1 247614817 247614817 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 247614817 247614817 G T SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known silent c.468 p.G156 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 53 0 0 23 21 47.7273 OR14A16 0 genome.wustl.edu 37 1 247978499 247978499 + Missense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 247978499 247978499 T A SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.533 p.D178V 0.996 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 OR14A16 HGNC ENSG00000196772 70 0 0 47 32 40.5063 OR2M5 0 genome.wustl.edu 37 1 248308897 248308897 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 248308897 248308897 A G SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.448 p.I150V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 251 0 0 290 34 10.4938 OR2T1 0 genome.wustl.edu 37 1 248569626 248569626 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 248569626 248569626 T G SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.331 p.F111V 0.998 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 OR2T1 HGNC ENSG00000175143 160 0 0 111 59 34.7059 LRRIQ3 0 genome.wustl.edu 37 1 74648428 74648428 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 74648428 74648428 T G SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.367 p.T123P 0.976 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 80 0 0 34 39 53.4247 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957799 74957799 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 74957799 74957799 A C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2542 p.S848R 0.999 NULL 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 263 0 0 185 36 16.2896 ELTD1 0 genome.wustl.edu 37 1 79404899 79404899 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 79404899 79404899 C A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.370 p.A124S 0.891 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 28 0 0 18 10 35.7143 CLSTN1 0 genome.wustl.edu 37 1 9795564 9795564 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 9795564 9795564 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1844 p.T615M 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 245 0 0 184 27 12.7962 TACC2 0 genome.wustl.edu 37 10 123843296 123843296 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 10 123843296 123843296 T A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.1281 p.A427 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 110 0 0 52 17 24.6377 PFKP 0 genome.wustl.edu 37 10 3147323 3147323 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 10 3147323 3147323 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.637 p.V213I 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 46 0 0 31 7 18.4211 DYNC2H1 0 genome.wustl.edu 37 11 103075565 103075565 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 103075565 103075565 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8326 p.L2776V 1.000 superfamily_P-loop_NTPase 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 16 0 0 6 2 25 EXPH5 0 genome.wustl.edu 37 11 108383530 108383530 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 108383530 108383530 A T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.2704 p.S902T 0.003 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 102 0 0 93 16 14.6789 ARHGAP20 0 genome.wustl.edu 37 11 110451100 110451100 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 110451100 110451100 A G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2570 p.L857P 0.497 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 78 0 0 51 10 16.3934 BCO2 0 genome.wustl.edu 37 11 112046403 112046403 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 112046403 112046403 C T SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.79 p.R27W 0.000 NULL pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 73 0 0 71 10 12.3457 SC5D 0 genome.wustl.edu 37 11 121174091 121174091 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 121174091 121174091 C T SNP SC5D ENST00000264027 human ensembl 74_37 +1 known missense c.7 p.L3F 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors SC5D HGNC ENSG00000109929 66 0 0 87 11 11.2245 TMEM225 0 genome.wustl.edu 37 11 123754862 123754862 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 123754862 123754862 T C SNP TMEM225 ENST00000375026 human ensembl 74_37 -1 known missense c.383 p.Q128R 0.000 NULL NULL - no_errors TMEM225 HGNC ENSG00000204300 95 0 0 77 31 28.7037 MUC5B 0 genome.wustl.edu 37 11 1267074 1267074 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 1267074 1267074 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.8973 p.G2991 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 236 0 0 115 27 19.0141 TPH1 0 genome.wustl.edu 37 11 18062241 18062241 + Silent SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 18062241 18062241 G C SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known silent c.69 p.S23 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 13 0 0 13 4 23.5294 MRGPRX1 0 genome.wustl.edu 37 11 18956338 18956338 + RNA SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 18956338 18956338 A T SNP MRGPRX1 ENST00000526914 human ensembl 74_37 -1 putative rna NULL NULL 0.014 - - - no_errors MRGPRX1 HGNC ENSG00000170255 184 0 0 80 60 42.8571 ACCSL 0 genome.wustl.edu 37 11 44074584 44074584 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 44074584 44074584 A C SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.914 p.K305T 0.986 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 74 0 0 35 14 28.5714 OR51E1 0 genome.wustl.edu 37 11 4674666 4674666 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 4674666 4674666 C T SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.910 p.R304C 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 111 0 0 62 15 19.4805 TRIM5 0 genome.wustl.edu 37 11 5686758 5686758 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 5686758 5686758 G A SNP TRIM5 ENST00000396847 human ensembl 74_37 -1 known silent c.1023 p.H341 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 54 0 0 33 6 15.3846 SCGB1D4 0 genome.wustl.edu 37 11 62064966 62064966 + Nonsense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 62064966 62064966 G A SNP SCGB1D4 ENST00000358585 human ensembl 74_37 -1 known nonsense c.220 p.R74* 0.001 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D4 HGNC ENSG00000197745 295 0 0 188 45 19.3133 AHNAK 0 genome.wustl.edu 37 11 62298581 62298581 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 62298581 62298581 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.3308 p.I1103T 0.262 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 120 0 0 50 31 38.2716 OR2D2 0 genome.wustl.edu 37 11 6913041 6913041 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 6913041 6913041 T G SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.691 p.T231P 0.359 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_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 73 0 0 33 17 34 ANKRD42 0 genome.wustl.edu 37 11 82938901 82938901 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 11 82938901 82938901 T A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known silent c.816 p.T272 0.998 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 ANKRD42 HGNC ENSG00000137494 121 0 0 104 35 25.1799 MYO1H 0 genome.wustl.edu 37 12 109844646 109844646 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 109844646 109844646 T G SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.968 p.I323S 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,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 68 0 0 49 25 33.7838 PRB2 0 genome.wustl.edu 37 12 11546745 11546745 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 11546745 11546745 A G SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.267 p.P89 0.278 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 226 0 0 205 39 15.9836 KSR2 0 genome.wustl.edu 37 12 117909125 117909125 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 117909125 117909125 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.2583 p.G861 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_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 58 0 0 45 6 11.7647 SBNO1 0 genome.wustl.edu 37 12 123794051 123794051 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 123794051 123794051 G A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.3522 p.H1174 0.967 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 225 1 0.442478 195 36 15.5844 EPS8 0 genome.wustl.edu 37 12 15811059 15811059 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 15811059 15811059 G C SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.1055 p.P352R 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 40 0 0 34 3 8.10811 SLCO1C1 0 genome.wustl.edu 37 12 20876091 20876091 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 20876091 20876091 T A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known silent c.1089 p.T363 0.134 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 67 0 0 68 14 17.0732 BCAT1 0 genome.wustl.edu 37 12 25047227 25047227 + Silent SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 25047227 25047227 A C SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known silent c.261 p.A87 0.041 superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 55 0 0 42 4 8.69565 ADAMTS20 0 genome.wustl.edu 37 12 43821195 43821195 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 43821195 43821195 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.4023 p.Y1341 0.991 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 48 0 0 54 3 5.26316 LOC100127967 0 genome.wustl.edu 37 12 53007444 53007444 + RNA SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 53007444 53007444 T G SNP LOC100127967 ENST00000549180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 71 0 0 31 20 39.2157 KRT73 0 genome.wustl.edu 37 12 53010156 53010156 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 53010156 53010156 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.456 p.F152 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 55 0 0 32 15 31.9149 DGKA 0 genome.wustl.edu 37 12 56335305 56335305 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 56335305 56335305 A C SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.1187 p.K396T 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 174 0 0 124 37 22.9814 CCDC41 0 genome.wustl.edu 37 12 94763808 94763808 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 94763808 94763808 T C SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.938 p.K313R 1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 99 0 0 94 43 31.3869 CCDC38 0 genome.wustl.edu 37 12 96273421 96273421 + Splice_Site SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 96273421 96273421 C G SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known splice_site c.1142+1 e11+1 1.000 - - - no_errors CCDC38 HGNC ENSG00000165972 34 0 0 46 8 14.8148 BRCA2 0 genome.wustl.edu 37 13 32972435 32972435 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 32972435 32972435 A C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9785 p.Q3262P 0.355 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 87 0 0 98 25 20.3252 BRCA2 0 genome.wustl.edu 37 13 32972587 32972587 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 32972587 32972587 A C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.9937 p.K3313Q 0.770 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 44 0 0 36 16 30.7692 VWA8 0 genome.wustl.edu 37 13 42465633 42465633 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 42465633 42465633 A G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.574 p.L192 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 95 0 0 129 17 11.6438 PCDH20 0 genome.wustl.edu 37 13 61985896 61985896 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 61985896 61985896 A G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2336 p.V779A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 51 0 0 50 10 16.6667 EDNRB 0 genome.wustl.edu 37 13 78493701 78493701 + Nonsense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 78493701 78493701 C T SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative nonsense c.50 p.W17* 0.072 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 28 0 0 16 10 38.4615 SLITRK5 0 genome.wustl.edu 37 13 88328652 88328652 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 13 88328652 88328652 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1009 p.P337T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 117 0 0 120 7 5.51181 MIA2 0 genome.wustl.edu 37 14 39709847 39709847 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 14 39709847 39709847 C T SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative missense c.329 p.T110M 1.000 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 60 0 0 46 5 9.80392 FAM179B 0 genome.wustl.edu 37 14 45433301 45433301 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 14 45433301 45433301 A G SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.1677 p.Q559 0.048 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 134 0 0 54 14 20.5882 TBPL2 0 genome.wustl.edu 37 14 55881108 55881108 + Nonsense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 14 55881108 55881108 T A SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known nonsense c.1117 p.K373* 1.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 47 0 0 16 17 51.5152 KCNH5 0 genome.wustl.edu 37 14 63416847 63416847 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 14 63416847 63416847 T C SNP KCNH5 ENST00000394964 human ensembl 74_37 -1 novel missense c.1199 p.K400R 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors KCNH5 HGNC ENSG00000140015 38 0 0 30 7 18.9189 UNC79 0 genome.wustl.edu 37 14 94060075 94060075 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 14 94060075 94060075 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3082 p.V1028I 0.998 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 152 0 0 114 17 12.9771 DNM1P47 0 genome.wustl.edu 37 15 102300677 102300677 + RNA SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 102300677 102300677 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.889 - - - no_errors DNM1P47 HGNC ENSG00000259660 49 0 0 27 4 12.9032 NPAP1 0 genome.wustl.edu 37 15 24921670 24921670 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 24921670 24921670 A T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.656 p.N219I 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 26 0 0 21 4 16 CTDSPL2 0 genome.wustl.edu 37 15 44816331 44816331 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 44816331 44816331 A G SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.1360 p.R454G 1.000 superfamily_HAD-like_dom pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 67 0 0 43 9 17.3077 MYO9A 0 genome.wustl.edu 37 15 72196297 72196297 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 72196297 72196297 T C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known silent c.2850 p.S950 0.982 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 37 0 0 28 2 6.66667 CYP11A1 0 genome.wustl.edu 37 15 74659825 74659825 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 74659825 74659825 A G SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known silent c.102 p.T34 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 51 0 0 21 9 30 MEX3B 0 genome.wustl.edu 37 15 82335547 82335547 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 82335547 82335547 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.1664 p.P555L 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 125 0 0 55 16 22.5352 RHCG 0 genome.wustl.edu 37 15 90023598 90023598 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 90023598 90023598 G A SNP RHCG ENST00000268122 human ensembl 74_37 -1 known silent c.564 p.G188 0.077 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 156 0 0 94 28 22.9508 IGF1R 0 genome.wustl.edu 37 15 99434708 99434708 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 15 99434708 99434708 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.795 p.P265 0.059 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 78 0 0 32 11 25.5814 ACSM2B 0 genome.wustl.edu 37 16 20576139 20576139 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 20576139 20576139 A C SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.29 p.L10R 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 49 0 0 40 7 14.8936 PRSS36 0 genome.wustl.edu 37 16 31157137 31157137 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 31157137 31157137 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known silent c.693 p.Y231 0.734 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 107 0 0 75 16 17.5824 IRX5 0 genome.wustl.edu 37 16 54967389 54967389 + Silent SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 54967389 54967389 C G SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known silent c.1056 p.G352 0.945 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 23 0 0 10 5 33.3333 CNOT1 0 genome.wustl.edu 37 16 58612764 58612764 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 58612764 58612764 A C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.1423 p.F475V 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 78 0 0 39 23 37.0968 MTSS1L 0 genome.wustl.edu 37 16 70697994 70697994 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 70697994 70697994 C T SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known silent c.1830 p.A610 0.996 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 40 0 0 10 7 41.1765 BCMO1 0 genome.wustl.edu 37 16 81314536 81314536 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 81314536 81314536 A G SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known silent c.1176 p.Q392 0.202 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 33 0 0 18 12 40 ZC3H18 0 genome.wustl.edu 37 16 88691082 88691082 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 16 88691082 88691082 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known silent c.1971 p.P657 0.038 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 46 0 0 30 5 14.2857 LRRC37B 0 genome.wustl.edu 37 17 30349600 30349600 + Nonsense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 30349600 30349600 C T SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known nonsense c.1435 p.Q479* 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 78 0 0 54 11 16.9231 SLC35G3 0 genome.wustl.edu 37 17 33520327 33520327 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 33520327 33520327 C A SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.1000 p.G334W 0.102 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 71 0 0 50 4 7.40741 WNK4 0 genome.wustl.edu 37 17 40945635 40945635 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 40945635 40945635 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.2183 p.S728L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 76 0 0 48 10 17.2414 XYLT2 0 genome.wustl.edu 37 17 48433527 48433527 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 48433527 48433527 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1387 p.R463C 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 113 0 0 94 16 14.5455 KIF2B 0 genome.wustl.edu 37 17 51901040 51901040 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 51901040 51901040 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.646 p.V216I 1.000 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 KIF2B HGNC ENSG00000141200 46 0 0 38 10 20.8333 MAP3K3 0 genome.wustl.edu 37 17 61766936 61766936 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 61766936 61766936 C A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.997 p.Q333K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 35 0 0 23 6 20.6897 SCN4A 0 genome.wustl.edu 37 17 62026057 62026057 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 62026057 62026057 G C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3058 p.L1020V 0.955 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 49 0 0 40 18 31.0345 PITPNM3 0 genome.wustl.edu 37 17 6374626 6374626 + Silent SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 6374626 6374626 C A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1479 p.R493 0.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 19 0 0 12 3 20 TP53 0 genome.wustl.edu 37 17 7577156 7577156 + Splice_Site SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 7577156 7577156 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.783-1 e7-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 16 0 0 2 7 77.7778 RBBP8 0 genome.wustl.edu 37 18 20529656 20529656 + Silent SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 18 20529656 20529656 C A SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known silent c.228 p.T76 1.000 pfam_CtIP_N pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 43 0 0 58 26 30.9524 MAPK4 0 genome.wustl.edu 37 18 48256160 48256160 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 18 48256160 48256160 C A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.1700 p.A567E 0.924 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 16 0 0 5 2 28.5714 MEX3C 0 genome.wustl.edu 37 18 48703728 48703728 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 18 48703728 48703728 C T SNP MEX3C ENST00000406189 human ensembl 74_37 -1 known missense c.973 p.G325S 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 38 0 0 10 5 33.3333 C3P1 0 genome.wustl.edu 37 19 10158055 10158055 + RNA SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 10158055 10158055 A C SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.866 - - - no_errors C3P1 HGNC ENSG00000167798 154 0 0 77 21 21.4286 KRI1 0 genome.wustl.edu 37 19 10665849 10665849 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 10665849 10665849 C T SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known silent c.1713 p.E571 1.000 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 139 0 0 49 43 46.7391 ZNF737 0 genome.wustl.edu 37 19 20727642 20727642 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 20727642 20727642 T C SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.1367 p.E456G 0.042 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 67 0 0 32 21 39.6226 ZNF345 0 genome.wustl.edu 37 19 37368345 37368345 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 37368345 37368345 A G SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.613 p.I205V 0.750 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 82 0 0 38 23 37.7049 C19orf33 0 genome.wustl.edu 37 19 38795285 38795285 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 38795285 38795285 G A SNP C19orf33 ENST00000301246 human ensembl 74_37 +1 known missense c.160 p.D54N 0.653 NULL NULL - no_errors C19orf33 HGNC ENSG00000167644 43 0 0 19 9 32.1429 PPP1R13L 0 genome.wustl.edu 37 19 45899878 45899878 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 45899878 45899878 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.637 p.A213T 0.005 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 26 0 0 4 9 69.2308 CD33 0 genome.wustl.edu 37 19 51728508 51728508 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 51728508 51728508 A T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.72 p.Q24H 0.000 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 65 0 0 81 9 10 ZNF528 0 genome.wustl.edu 37 19 52918410 52918410 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 52918410 52918410 A T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.305 p.N102I 0.057 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 ZNF528 HGNC ENSG00000167555 43 0 0 64 5 7.24638 MIR518D 0 genome.wustl.edu 37 19 54238162 54238162 + RNA SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 54238162 54238162 T A SNP MIR518D ENST00000385014 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors MIR518D HGNC ENSG00000207747 66 0 0 92 27 22.6891 PRKCG 0 genome.wustl.edu 37 19 54407962 54407962 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 54407962 54407962 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1730 p.S577L 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 57 0 0 34 5 12.8205 LILRB5 0 genome.wustl.edu 37 19 54755967 54755967 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 54755967 54755967 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1552 p.A518T 0.797 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 211 0 0 208 62 22.963 ZFP28 0 genome.wustl.edu 37 19 57060356 57060356 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 57060356 57060356 T G SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.553 p.L185V 0.005 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 ZFP28 HGNC ENSG00000196867 43 0 0 38 11 22.449 ZNF211 0 genome.wustl.edu 37 19 58152621 58152621 + Missense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 58152621 58152621 T A SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.806 p.L269H 0.016 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 ZNF211 HGNC ENSG00000121417 124 0 0 155 15 8.82353 ZSCAN4 0 genome.wustl.edu 37 19 58189377 58189377 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 58189377 58189377 A C SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.492 p.Q164H 0.003 NULL 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 ZSCAN4 HGNC ENSG00000180532 76 0 0 107 20 15.748 CD320 0 genome.wustl.edu 37 19 8369960 8369960 + Missense_Mutation SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 19 8369960 8369960 C G SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.223 p.D75H 0.842 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 49 0 0 29 3 9.375 ST6GAL2 0 genome.wustl.edu 37 2 107459867 107459867 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 107459867 107459867 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.567 p.G189 0.003 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 80 0 0 33 19 36.5385 RGPD4 0 genome.wustl.edu 37 2 108488780 108488780 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 108488780 108488780 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known silent c.4320 p.K1440 0.983 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 177 0 0 113 61 35.0575 POTEI 0 genome.wustl.edu 37 2 131220629 131220629 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 131220629 131220629 G T SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel missense c.2988 p.N996K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 15 0 0 3 3 50 LRP1B 0 genome.wustl.edu 37 2 141812802 141812802 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 141812802 141812802 G C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1435 p.P479A 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 56 0 0 12 10 45.4545 ZEB2 0 genome.wustl.edu 37 2 145154151 145154151 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 145154151 145154151 C A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2895 p.L965F 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 25 0 0 24 4 14.2857 TPO 0 genome.wustl.edu 37 2 1497732 1497732 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 1497732 1497732 T C SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1927 p.F643L 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 51 0 0 40 4 9.09091 SCN3A 0 genome.wustl.edu 37 2 165986737 165986737 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 165986737 165986737 C A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2635 p.V879L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 90 0 0 87 5 5.43478 TTN 0 genome.wustl.edu 37 2 179407393 179407393 + Silent SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 179407393 179407393 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.89484 p.I29828 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub 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 223 0 0 111 57 33.9286 ENSG00000231689 0 genome.wustl.edu 37 2 189092835 189092835 + RNA SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 189092835 189092835 C T SNP ENSG00000231689 ENST00000415357 human ensembl 74_37 -1 known rna NULL NULL 0.953 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 33 0 0 27 13 32.5 ZDBF2 0 genome.wustl.edu 37 2 207174303 207174303 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 207174303 207174303 A G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5051 p.H1684R 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 60 0 0 40 23 36.5079 RPE 0 genome.wustl.edu 37 2 210884513 210884513 + Nonstop_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 210884513 210884513 T C SNP RPE ENST00000359429 human ensembl 74_37 +1 known nonstop c.685 p.*229R 1.000 NULL pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 18 0 0 16 3 15.7895 ALPI 0 genome.wustl.edu 37 2 233323084 233323084 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 233323084 233323084 T C SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.1149 p.F383 0.946 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 39 0 0 22 2 8.33333 XDH 0 genome.wustl.edu 37 2 31572645 31572645 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 31572645 31572645 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2876 p.K959T 0.997 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 102 0 0 70 16 18.6047 BIRC6 0 genome.wustl.edu 37 2 32602775 32602775 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 32602775 32602775 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.445 p.A149T 1.000 superfamily_WD40_repeat_dom 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 104 1 0.952381 77 5 6.09756 BIRC6 0 genome.wustl.edu 37 2 32724719 32724719 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 32724719 32724719 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.8574 p.A2858 0.980 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 139 1 0.714286 105 20 16 PPM1B 0 genome.wustl.edu 37 2 44459579 44459579 + RNA SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 44459579 44459579 C T SNP PPM1B ENST00000459690 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC ENSG00000138032 17 0 0 11 4 26.6667 FSHR 0 genome.wustl.edu 37 2 49381499 49381499 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 49381499 49381499 G T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.58 p.H20N 0.998 pfam_LRR-contain_N,smart_LRR-contain_N,prints_FSH_rcpt 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 43 0 0 27 8 22.8571 PROKR1 0 genome.wustl.edu 37 2 68882556 68882556 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 68882556 68882556 A G SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.1030 p.T344A 0.990 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 79 0 0 47 6 11.3208 KIDINS220 0 genome.wustl.edu 37 2 8919264 8919264 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 2 8919264 8919264 T C SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known silent c.2376 p.R792 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 73 0 0 51 10 16.3934 NINL 0 genome.wustl.edu 37 20 25478911 25478911 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 20 25478911 25478911 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1104 p.M368I 0.948 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 45 0 0 36 11 23.4043 DNMT3B 0 genome.wustl.edu 37 20 31388003 31388003 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 20 31388003 31388003 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1804 p.V602I 0.459 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 123 0 0 187 17 8.33333 ENSG00000244558 0 genome.wustl.edu 37 20 43374604 43374604 + Splice_Site SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 20 43374604 43374604 A G SNP ENSG00000244558 ENST00000427303 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-445H22.4 Clone_based_vega_gene ENSG00000244558 17 0 0 31 6 16.2162 TSHZ2 0 genome.wustl.edu 37 20 51870079 51870079 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 20 51870079 51870079 A C SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.82 p.K28Q 0.989 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 15 0 0 6 13 68.4211 LAMA5 0 genome.wustl.edu 37 20 60913351 60913351 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 20 60913351 60913351 C A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1693 p.G565C 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 16 0 0 14 5 26.3158 ANKRD30BP2 0 genome.wustl.edu 37 21 14417520 14417520 + RNA SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 21 14417520 14417520 A G SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 25 0 0 24 3 11.1111 FTCD 0 genome.wustl.edu 37 21 47574136 47574136 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 21 47574136 47574136 C T SNP FTCD ENST00000359679 human ensembl 74_37 -1 known silent c.165 p.P55 0.000 pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 87 0 0 30 13 30.2326 PCNT 0 genome.wustl.edu 37 21 47832901 47832901 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 21 47832901 47832901 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.6145 p.G2049S 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 39 0 0 25 4 13.7931 OR11H1 0 genome.wustl.edu 37 22 16449513 16449513 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 22 16449513 16449513 C T SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.292 p.V98I 0.749 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 19 0 0 10 3 23.0769 TTLL1 0 genome.wustl.edu 37 22 43442565 43442565 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 22 43442565 43442565 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known silent c.993 p.P331 0.657 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 144 0 0 105 31 22.7941 FANCD2 0 genome.wustl.edu 37 3 10088405 10088405 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 10088405 10088405 T C SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known silent c.1276 p.L426 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 51 0 0 31 15 32.6087 IMPG2 0 genome.wustl.edu 37 3 100951810 100951810 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 100951810 100951810 A G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.3048 p.F1016 1.000 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 71 0 0 68 34 33.3333 NXPE3 0 genome.wustl.edu 37 3 101540654 101540654 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 101540654 101540654 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1536 p.M512I 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 154 0 0 136 34 20 KIAA1407 0 genome.wustl.edu 37 3 113761657 113761657 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 113761657 113761657 A G SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.308 p.L103P 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 78 0 0 99 22 18.1818 FSTL1 0 genome.wustl.edu 37 3 120115829 120115829 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 120115829 120115829 C A SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.897 p.K299N 1.000 NULL pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 129 0 0 132 52 28.2609 HSPBAP1 0 genome.wustl.edu 37 3 122459454 122459454 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 122459454 122459454 G A SNP HSPBAP1 ENST00000306103 human ensembl 74_37 -1 known missense c.1205 p.P402L 0.001 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 139 0 0 188 29 13.3641 PLXND1 0 genome.wustl.edu 37 3 129277407 129277407 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 129277407 129277407 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.5309 p.R1770Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXND1 HGNC ENSG00000004399 70 0 0 69 16 18.8235 COL6A5 0 genome.wustl.edu 37 3 130187765 130187765 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 130187765 130187765 A T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6917 p.E2306V 0.920 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 20 0 0 30 8 21.0526 COL6A6 0 genome.wustl.edu 37 3 130354547 130354547 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 130354547 130354547 A T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.5033 p.E1678V 0.946 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 32 0 0 32 5 13.5135 FBLN2 0 genome.wustl.edu 37 3 13659633 13659633 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 13659633 13659633 T C SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.1787 p.L596P 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 164 0 0 104 41 28.2759 DZIP1L 0 genome.wustl.edu 37 3 137822699 137822699 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 137822699 137822699 T G SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.115 p.S39R 0.193 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 193 0 0 113 137 54.8 PAQR9 0 genome.wustl.edu 37 3 142681913 142681913 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 142681913 142681913 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.266 p.T89M 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 24 0 0 35 29 45.3125 POMGNT2 0 genome.wustl.edu 37 3 43122809 43122809 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 43122809 43122809 T C SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.115 p.S39G 0.002 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 36 0 0 30 4 11.7647 GRM2 0 genome.wustl.edu 37 3 51747059 51747059 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 51747059 51747059 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 36 0 0 15 9 37.5 ROBO1 0 genome.wustl.edu 37 3 79174627 79174627 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 79174627 79174627 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.151 p.D51N 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 ROBO1 HGNC ENSG00000169855 38 0 0 25 7 21.875 ANK2 0 genome.wustl.edu 37 4 114294571 114294571 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 4 114294571 114294571 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11825 p.R3942H 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 ANK2 HGNC ENSG00000145362 137 0 0 109 20 15.5039 NDNF 0 genome.wustl.edu 37 4 121957572 121957572 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 4 121957572 121957572 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.1554 p.F518 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 41 0 0 48 5 9.43396 PDGFC 0 genome.wustl.edu 37 4 157771489 157771489 + Silent SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 4 157771489 157771489 A C SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known silent c.198 p.T66 0.758 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 52 0 0 27 6 18.1818 RAPGEF6 0 genome.wustl.edu 37 5 130828379 130828379 + Nonsense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 130828379 130828379 G A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known nonsense c.1627 p.Q543* 0.501 pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 81 0 0 75 14 15.7303 TGFBI 0 genome.wustl.edu 37 5 135392470 135392470 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 135392470 135392470 G A SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.1664 p.R555Q 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 17 0 0 18 5 21.7391 MFAP3 0 genome.wustl.edu 37 5 153429236 153429236 + RNA SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 153429236 153429236 A C SNP MFAP3 ENST00000519928 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MFAP3 HGNC ENSG00000037749 22 0 0 13 3 18.75 DOCK2 0 genome.wustl.edu 37 5 169423161 169423161 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 169423161 169423161 A C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3065 p.E1022A 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 44 0 0 26 15 36.5854 CENPH 0 genome.wustl.edu 37 5 68498798 68498798 + Splice_Site SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 68498798 68498798 G A SNP CENPH ENST00000283006 human ensembl 74_37 +1 known splice_site c.487+1 e7+1 0.927 - - - no_errors CENPH HGNC ENSG00000153044 38 0 0 28 5 15.1515 ADCY2 0 genome.wustl.edu 37 5 7706939 7706939 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 7706939 7706939 C A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1192 p.L398M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 164 0 0 133 20 13.0719 VCAN 0 genome.wustl.edu 37 5 82816102 82816102 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 5 82816102 82816102 T A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.1977 p.S659 0.371 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 80 0 0 76 13 14.6067 ASCC3 0 genome.wustl.edu 37 6 101103582 101103582 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 101103582 101103582 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2816 p.A939V 0.999 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 44 0 0 32 22 40.7407 REV3L 0 genome.wustl.edu 37 6 111696720 111696720 + Silent SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 111696720 111696720 A T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.2838 p.P946 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 25 0 0 18 9 33.3333 HSF2 0 genome.wustl.edu 37 6 122740353 122740353 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 122740353 122740353 T G SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.572 p.L191R 1.000 NULL pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 37 0 0 32 5 13.5135 SYNE1 0 genome.wustl.edu 37 6 152551776 152551776 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 152551776 152551776 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21101 p.L7034Q 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 76 0 0 43 13 23.2143 RREB1 0 genome.wustl.edu 37 6 7230131 7230131 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 7230131 7230131 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.1799 p.S600N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 33 0 0 22 2 8.33333 RIMS1 0 genome.wustl.edu 37 6 72974729 72974729 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 72974729 72974729 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.3168 p.Q1056 0.997 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 9 0 0 12 3 20 KCNQ5 0 genome.wustl.edu 37 6 73904338 73904338 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 73904338 73904338 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2030 p.S677L 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 94 0 0 57 16 21.9178 GIGYF1 0 genome.wustl.edu 37 7 100281681 100281681 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 100281681 100281681 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.1830 p.T610 0.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 21 0 0 13 5 27.7778 OR2F1 0 genome.wustl.edu 37 7 143657492 143657492 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 143657492 143657492 G A SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known silent c.429 p.R143 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 97 0 0 49 21 30 SSPO 0 genome.wustl.edu 37 7 149480298 149480298 + RNA SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 149480298 149480298 A G SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors SSPO HGNC ENSG00000197558 56 0 0 24 2 7.69231 SP8 0 genome.wustl.edu 37 7 20824641 20824641 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 20824641 20824641 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.795 p.P265 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 25 0 0 10 6 37.5 NOD1 0 genome.wustl.edu 37 7 30491122 30491122 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 30491122 30491122 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.1911 p.R637 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 20 0 0 21 3 12.5 SDK1 0 genome.wustl.edu 37 7 4172020 4172020 + Nonsense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 4172020 4172020 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known nonsense c.4193 p.W1398* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 36 0 0 12 9 42.8571 PKD1L1 0 genome.wustl.edu 37 7 47894629 47894629 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 47894629 47894629 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.4710 p.R1570 0.001 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 52 0 0 30 9 23.0769 PCLO 0 genome.wustl.edu 37 7 82544566 82544566 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 82544566 82544566 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12736 p.R4246G 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 26 0 0 16 7 30.4348 PCLO 0 genome.wustl.edu 37 7 82545323 82545323 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 82545323 82545323 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11979 p.T3993 0.986 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 359 0 0 261 66 20.1835 PCLO 0 genome.wustl.edu 37 7 82584206 82584206 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 82584206 82584206 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6063 p.H2021Q 0.963 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 41 0 0 30 8 21.0526 DMTF1 0 genome.wustl.edu 37 7 86800391 86800391 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 86800391 86800391 G T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.313 p.V105L 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 49 0 0 35 2 5.40541 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99027390 99027390 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 99027390 99027390 T C SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.781 p.T261A 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 50 0 0 22 10 31.25 GPC2 0 genome.wustl.edu 37 7 99774670 99774670 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 7 99774670 99774670 G A SNP GPC2 ENST00000292377 human ensembl 74_37 -1 known silent c.153 p.P51 1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 31 0 0 35 2 5.40541 TG 0 genome.wustl.edu 37 8 133899355 133899355 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 133899355 133899355 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1738 p.F580V 0.997 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 74 0 0 59 7 10.6061 ZNF623 0 genome.wustl.edu 37 8 144733376 144733376 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 144733376 144733376 A G SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.1334 p.K445R 0.876 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 94 0 0 83 9 9.78261 PARP10 0 genome.wustl.edu 37 8 145058498 145058498 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 145058498 145058498 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.1560 p.S520 0.912 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 33 0 0 25 10 28.5714 PARP10 0 genome.wustl.edu 37 8 145059121 145059121 + Missense_Mutation SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 145059121 145059121 C G SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.1049 p.S350T 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 95 0 0 66 12 15.3846 ADCK5 0 genome.wustl.edu 37 8 145608358 145608358 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 145608358 145608358 C T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.193 p.R65C 0.030 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 10 0 0 3 4 57.1429 ENSG00000255182 0 genome.wustl.edu 37 8 145722828 145722828 + Splice_Site SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 145722828 145722828 T A SNP ENSG00000255182 ENST00000532766 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors CTD-2517M22.14 Clone_based_vega_gene ENSG00000255182 52 0 0 24 4 14.2857 CSGALNACT1 0 genome.wustl.edu 37 8 19362744 19362744 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 19362744 19362744 T C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.602 p.H201R 0.015 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 81 0 0 45 13 22.4138 ADRA1A 0 genome.wustl.edu 37 8 26628025 26628025 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 26628025 26628025 T C SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1042 p.R348G 0.565 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 238 0 0 130 30 18.75 GINS4 0 genome.wustl.edu 37 8 41399380 41399380 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 41399380 41399380 A C SNP GINS4 ENST00000276533 human ensembl 74_37 +1 known missense c.537 p.Q179H 0.995 pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 65 0 0 40 6 13.0435 C8orf34 0 genome.wustl.edu 37 8 69358714 69358714 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 69358714 69358714 C T SNP C8orf34 ENST00000523686 human ensembl 74_37 +1 known missense c.368 p.S123L 0.004 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 36 0 0 40 5 11.1111 DPY19L4 0 genome.wustl.edu 37 8 95793379 95793379 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 8 95793379 95793379 T C SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.1700 p.L567P 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 77 0 0 47 12 20.339 C9orf84 0 genome.wustl.edu 37 9 114466182 114466182 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 114466182 114466182 T G SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.2754 p.E918D 0.664 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 38 0 0 17 15 46.875 TLR4 0 genome.wustl.edu 37 9 120475601 120475601 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 120475601 120475601 A C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1195 p.T399P 0.035 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 29 0 0 30 3 9.09091 OR1B1 0 genome.wustl.edu 37 9 125391418 125391418 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 125391418 125391418 G T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.397 p.H133N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 75 0 0 31 8 20.5128 NELFB 0 genome.wustl.edu 37 9 140151447 140151447 + Nonsense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 140151447 140151447 G T SNP NELFB ENST00000343053 human ensembl 74_37 +1 known nonsense c.538 p.E180* 1.000 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 60 0 0 38 15 28.3019 ELAVL2 0 genome.wustl.edu 37 9 23762120 23762120 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 23762120 23762120 T C SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.113 p.K38R 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 188 0 0 109 23 17.4242 SPATA31A6 0 genome.wustl.edu 37 9 43625069 43625069 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 43625069 43625069 C T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3618 p.M1206I 0.027 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 236 0 0 128 41 24.2604 TPD52L3 0 genome.wustl.edu 37 9 6328606 6328606 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 6328606 6328606 C A SNP TPD52L3 ENST00000344545 human ensembl 74_37 +1 known missense c.11 p.A4D 0.006 pfam_TPD52 pfam_TPD52 - no_errors TPD52L3 HGNC ENSG00000170777 121 0 0 107 15 12.2951 IL1RAPL2 0 genome.wustl.edu 37 X 104728346 104728346 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 104728346 104728346 G A SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.739 p.E247K 1.000 pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 47 0 0 22 29 56.8627 TENM1 0 genome.wustl.edu 37 X 124028194 124028194 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 124028194 124028194 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.486 p.K162 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 48 0 0 22 23 51.1111 ACTRT1 0 genome.wustl.edu 37 X 127185978 127185978 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 127185978 127185978 A C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.208 p.L70V 0.625 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 91 0 0 55 27 32.9268 FLNA 0 genome.wustl.edu 37 X 153587984 153587984 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 153587984 153587984 C A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.4010 p.G1337V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 36 0 0 4 12 75 RAI2 0 genome.wustl.edu 37 X 17819536 17819536 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 17819536 17819536 C T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.595 p.G199R 0.998 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 34 0 0 10 11 52.381 MAGEB18 0 genome.wustl.edu 37 X 26157600 26157600 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d X 26157600 26157600 A C SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.498 p.E166D 0.991 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 11 0 0 5 8 61.5385 LBR 0 genome.wustl.edu 37 1 225592318 225592330 + Frame_Shift_Del DEL CAATACTTACGTG CAATACTTACGTG - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 CAATACTTACGTG CAATACTTACGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 225592318 225592330 CAATACTTACGTG - DEL LBR ENST00000272163 human ensembl 74_37 -1 known frame_shift_del c.1574_1562 p.H522fs 0.001:0.004:0.000:0.000:0.520:1.000:1.000:0.997:1.000:1.000:0.993:0.662:0.977 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 42 0 0 49 6 10.9091 PNRC2 0 genome.wustl.edu 37 1 24288296 24288297 + Frame_Shift_Ins INS - - T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 1 24288296 24288297 - T INS PNRC2 ENST00000334351 human ensembl 74_37 +1 known frame_shift_ins c.349_350 p.S118fs 1.000:1.000 NULL NULL - no_errors PNRC2 HGNC ENSG00000189266 19 0 0 28 2 6.66667 CCAR1 0 genome.wustl.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 10 70509285 70509286 GA - DEL CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_del c.961_962 p.R324fs 1.000:1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 33 0 0 26 4 13.3333 NAV3 0 genome.wustl.edu 37 12 78598848 78598848 + Frame_Shift_Del DEL G G - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 12 78598848 78598848 G - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.6968 p.S2323fs 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 41 0 0 41 4 8.88889 CRHR1 0 genome.wustl.edu 37 17 43908305 43908308 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 17 43908305 43908308 AAGT - DEL CRHR1 ENST00000398285 human ensembl 74_37 +1 known frame_shift_del c.856_857 p.K286fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 79 0 0 59 6 9.23077 LTN1 0 genome.wustl.edu 37 21 30339205 30339206 + Frame_Shift_Ins INS - - T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 21 30339205 30339206 - T INS LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_ins c.1746_1745 p.N582fs 0.000:0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 23 0 0 21 2 8.69565 PLD1 0 genome.wustl.edu 37 3 171455451 171455452 + Splice_Site INS - - A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 3 171455451 171455452 - A INS PLD1 ENST00000351298 human ensembl 74_37 -1 known splice_site_ins c.161-3_161-2 e2-2 0.999:0.901 - - - no_errors PLD1 HGNC ENSG00000075651 17 0 0 27 2 6.89655 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 9 0 0 7 2 22.2222 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 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 ZFP37 HGNC ENSG00000136866 47 0 0 31 16 34.0426