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 AMY2B 0 genome.wustl.edu 37 1 104122045 104122045 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 104122045 104122045 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1459 p.D487N 0.976 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 390 0 0 239 42 14.9466 PTCHD2 0 genome.wustl.edu 37 1 11579842 11579842 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 11579842 11579842 A T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2105 p.N702I 0.002 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 203 0 0 64 19 22.8916 TAS1R3 0 genome.wustl.edu 37 1 1269599 1269599 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 1269599 1269599 T G SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.2314 p.F772V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 24 0 0 7 2 22.2222 PDE4DIP 0 genome.wustl.edu 37 1 144892483 144892483 + Silent SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 144892483 144892483 A T SNP PDE4DIP ENST00000369351 human ensembl 74_37 -1 known silent c.2922 p.G974 0.073 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 152 0 0 81 8 8.98876 SF3B4 0 genome.wustl.edu 37 1 149898269 149898269 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 149898269 149898269 T C SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known silent c.705 p.P235 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 85 0 0 29 7 19.4444 RAB13 0 genome.wustl.edu 37 1 153955315 153955315 + RNA SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 153955315 153955315 C T SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RAB13 HGNC ENSG00000143545 46 0 0 18 4 18.1818 FCRL2 0 genome.wustl.edu 37 1 157738349 157738349 + Silent SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 157738349 157738349 G T SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known silent c.738 p.T246 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 199 0 0 105 17 13.9344 CD5L 0 genome.wustl.edu 37 1 157803288 157803288 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 157803288 157803288 T C SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.733 p.R245G 0.576 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 164 0 0 71 15 17.4419 FCER1A 0 genome.wustl.edu 37 1 159275976 159275976 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 159275976 159275976 C T SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.530 p.T177M 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 113 1 0.877193 58 8 12.1212 SLC9C2 0 genome.wustl.edu 37 1 173506170 173506170 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 173506170 173506170 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known silent c.1566 p.F522 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 130 0 0 108 15 12.1951 STX6 0 genome.wustl.edu 37 1 180957480 180957480 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 180957480 180957480 A C SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.491 p.L164W 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 93 0 0 35 8 18.6047 CFHR2 0 genome.wustl.edu 37 1 196920148 196920148 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 196920148 196920148 C T SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known silent c.420 p.C140 0.037 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 141 0 0 48 5 9.43396 TGFB2 0 genome.wustl.edu 37 1 218520217 218520217 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 218520217 218520217 T G SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known silent c.174 p.P58 0.876 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGFb2 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 113 0 0 45 6 11.7647 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 58 0 0 13 4 23.5294 OBSCN 0 genome.wustl.edu 37 1 228548245 228548245 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 228548245 228548245 C T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.11009 p.S3670F 0.993 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 23 0 0 14 2 12.5 TRIM11 0 genome.wustl.edu 37 1 228582439 228582439 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 228582439 228582439 T G SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.1374 p.K458N 0.517 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 49 0 0 15 3 16.6667 EFCAB2 0 genome.wustl.edu 37 1 245250690 245250690 + RNA SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 245250690 245250690 A G SNP EFCAB2 ENST00000473686 human ensembl 74_37 +1 known rna NULL NULL 0.170 - - - no_errors EFCAB2 HGNC ENSG00000203666 32 0 0 17 6 26.087 AHCTF1 0 genome.wustl.edu 37 1 247006019 247006019 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 247006019 247006019 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.6612 p.T2204 0.273 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 190 0 0 82 13 13.6842 NLRP3 0 genome.wustl.edu 37 1 247588601 247588601 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 247588601 247588601 A C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.1856 p.K619T 0.966 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 81 0 0 37 5 11.9048 OR2G2 0 genome.wustl.edu 37 1 247752318 247752318 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 247752318 247752318 C T SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known silent c.657 p.V219 0.019 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 OR2G2 HGNC ENSG00000177489 116 0 0 70 16 18.6047 OR2G6 0 genome.wustl.edu 37 1 248685732 248685732 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 248685732 248685732 C T SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.785 p.P262L 0.806 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 137 0 0 76 4 5 RPE65 0 genome.wustl.edu 37 1 68910260 68910260 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 68910260 68910260 T A SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known missense c.449 p.N150I 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 130 0 0 64 18 21.9512 CA6 0 genome.wustl.edu 37 1 9011657 9011657 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 9011657 9011657 C T SNP CA6 ENST00000480186 human ensembl 74_37 +1 putative silent c.435 p.G145 0.002 pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 67 0 0 19 3 13.6364 ATRNL1 0 genome.wustl.edu 37 10 116930868 116930868 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 116930868 116930868 A C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.1166 p.N389T 1.000 pfam_Kelch_2 pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 172 0 0 94 15 13.7615 PNLIP 0 genome.wustl.edu 37 10 118321115 118321115 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 118321115 118321115 C T SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.1301 p.S434F 0.907 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 165 0 0 97 7 6.73077 HSPA12A 0 genome.wustl.edu 37 10 118435928 118435928 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 118435928 118435928 T C SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1372 p.S458G 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 169 0 0 50 9 15.2542 RGS10 0 genome.wustl.edu 37 10 121285571 121285571 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 121285571 121285571 A C SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known missense c.228 p.D76E 0.913 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 171 0 0 50 15 23.0769 INPP5A 0 genome.wustl.edu 37 10 134563341 134563341 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 134563341 134563341 G A SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known missense c.895 p.G299S 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 203 0 0 53 10 15.873 NEBL 0 genome.wustl.edu 37 10 21101765 21101765 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 21101765 21101765 G T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2451 p.S817R 0.997 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 52 0 0 41 4 8.88889 PTF1A 0 genome.wustl.edu 37 10 23482704 23482704 + Nonsense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 23482704 23482704 G T SNP PTF1A ENST00000376504 human ensembl 74_37 +1 known nonsense c.856 p.E286* 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors PTF1A HGNC ENSG00000168267 455 1 0.219298 144 28 16.2791 GPR158 0 genome.wustl.edu 37 10 25887234 25887234 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 25887234 25887234 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2679 p.H893 0.989 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 233 0 0 86 10 10.4167 ANKRD30A 0 genome.wustl.edu 37 10 37451723 37451723 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 37451723 37451723 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1781 p.K594R 0.057 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 152 0 0 95 17 15.1786 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 63 0 0 23 14 37.8378 HKDC1 0 genome.wustl.edu 37 10 71008285 71008285 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 10 71008285 71008285 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known silent c.1371 p.T457 0.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 100 0 0 41 3 6.81818 KCNQ1 0 genome.wustl.edu 37 11 2604770 2604770 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 11 2604770 2604770 C T SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known missense c.1027 p.P343S 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 157 0 0 57 8 12.3077 OR52I1 0 genome.wustl.edu 37 11 4615839 4615839 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 11 4615839 4615839 T G SNP OR52I1 ENST00000530443 human ensembl 74_37 +1 known missense c.571 p.L191V 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC ENSG00000232268 257 1 0.387597 142 21 12.8834 OR5D14 0 genome.wustl.edu 37 11 55563231 55563231 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 11 55563231 55563231 A G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.200 p.H67R 0.009 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 OR5D14 HGNC ENSG00000186113 106 0 0 95 10 9.52381 FADS3 0 genome.wustl.edu 37 11 61646980 61646980 + Missense_Mutation SNP G G C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 11 61646980 61646980 G C SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known missense c.326 p.A109G 0.050 superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 17 0 0 2 2 50 RARRES3 0 genome.wustl.edu 37 11 63312231 63312231 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 11 63312231 63312231 C T SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known missense c.257 p.P86L 0.982 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 173 0 0 80 12 13.0435 VPS29 0 genome.wustl.edu 37 12 110933945 110933945 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 110933945 110933945 T C SNP VPS29 ENST00000549578 human ensembl 74_37 -1 known missense c.67 p.K23E 1.000 tigrfam_Phosphodiesterase_MJ0936 tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 123 0 0 66 16 19.5122 TMEM132B 0 genome.wustl.edu 37 12 126138782 126138782 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 126138782 126138782 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.2763 p.A921 0.008 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 150 0 0 85 7 7.6087 MMP17 0 genome.wustl.edu 37 12 132326256 132326256 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 132326256 132326256 T C SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.794 p.I265T 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 63 0 0 26 11 29.7297 PDE3A 0 genome.wustl.edu 37 12 20523121 20523121 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 20523121 20523121 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.903 p.S301 0.006 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 69 0 0 30 5 14.2857 GYS2 0 genome.wustl.edu 37 12 21757519 21757519 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 21757519 21757519 C T SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.643 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 76 0 0 47 33 41.25 LDHB 0 genome.wustl.edu 37 12 21807527 21807527 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 21807527 21807527 C T SNP LDHB ENST00000350669 human ensembl 74_37 -1 known missense c.79 p.V27M 0.999 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 193 0 0 94 11 10.4762 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 92 0 0 40 17 29.8246 KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 25380275 25380275 T G SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.183 p.Q61H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 72 0 0 32 27 45.7627 FOXM1 0 genome.wustl.edu 37 12 2968120 2968120 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 2968120 2968120 A G SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.2090 p.L697P 0.782 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 125 0 0 53 16 23.1884 KRT85 0 genome.wustl.edu 37 12 52754645 52754645 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 52754645 52754645 A G SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known missense c.1516 p.F506L 0.974 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 173 0 0 54 10 15.625 ITGB7 0 genome.wustl.edu 37 12 53587072 53587072 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 53587072 53587072 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known silent c.1578 p.G526 0.990 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 44 0 0 26 3 10.3448 VWF 0 genome.wustl.edu 37 12 6078421 6078421 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 6078421 6078421 T G SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7685 p.Q2562P 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 39 0 0 23 5 17.8571 TMCC3 0 genome.wustl.edu 37 12 94976127 94976127 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 12 94976127 94976127 C T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.266 p.R89H 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 230 0 0 118 12 9.23077 SGCG 0 genome.wustl.edu 37 13 23824817 23824817 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 13 23824817 23824817 C T SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.346 p.R116C 0.255 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 55 0 0 17 3 15 MLNR 0 genome.wustl.edu 37 13 49795336 49795336 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 13 49795336 49795336 G A SNP MLNR ENST00000218721 human ensembl 74_37 +1 known missense c.863 p.G288E 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GHS-R - no_errors MLNR HGNC ENSG00000102539 36 0 0 14 5 26.3158 COMMD6 0 genome.wustl.edu 37 13 76111944 76111944 + RNA SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 13 76111944 76111944 G A SNP COMMD6 ENST00000486516 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors COMMD6 HGNC ENSG00000188243 144 0 0 68 17 20 ABCC4 0 genome.wustl.edu 37 13 95839074 95839074 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 13 95839074 95839074 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1426 p.A476T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 53 0 0 26 4 13.3333 OR11H12 0 genome.wustl.edu 37 14 19378049 19378049 + Silent SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 14 19378049 19378049 T A SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known silent c.456 p.T152 0.011 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 OR11H12 HGNC ENSG00000257115 538 0 0 354 26 6.84211 CMA1 0 genome.wustl.edu 37 14 24975265 24975265 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 14 24975265 24975265 C T SNP CMA1 ENST00000250378 human ensembl 74_37 -1 known missense c.569 p.G190D 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CMA1 HGNC ENSG00000092009 81 0 0 35 2 5.40541 PYGL 0 genome.wustl.edu 37 14 51383390 51383390 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 14 51383390 51383390 A G SNP PYGL ENST00000216392 human ensembl 74_37 -1 known silent c.1062 p.F354 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 149 0 0 45 8 15.0943 MYO1E 0 genome.wustl.edu 37 15 59548485 59548485 + Silent SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 59548485 59548485 G T SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known silent c.330 p.I110 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 68 0 0 36 7 16.2791 RBPMS2 0 genome.wustl.edu 37 15 65041332 65041332 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 65041332 65041332 G A SNP RBPMS2 ENST00000300069 human ensembl 74_37 -1 known silent c.285 p.P95 0.006 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS2 HGNC ENSG00000166831 176 0 0 60 10 14.2857 NEO1 0 genome.wustl.edu 37 15 73580780 73580780 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 73580780 73580780 A G SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.3537 p.P1179 1.000 pfam_Neogenin_C pfam_Neogenin_C,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 NEO1 HGNC ENSG00000067141 140 0 0 59 13 18.0556 ARNT2 0 genome.wustl.edu 37 15 80743280 80743280 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 80743280 80743280 G A SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.91 p.G31R 0.972 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 236 1 0.421941 98 25 20.3252 ARNT2 0 genome.wustl.edu 37 15 80867400 80867400 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 80867400 80867400 T C SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1462 p.S488P 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 307 0 0 143 23 13.8554 ZNF592 0 genome.wustl.edu 37 15 85328011 85328011 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 15 85328011 85328011 A G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.2105 p.D702G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 109 0 0 41 8 16.3265 SNX29 0 genome.wustl.edu 37 16 12571649 12571649 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 12571649 12571649 A C SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.956 p.K319T 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 85 0 0 21 4 16 MYH11 0 genome.wustl.edu 37 16 15818135 15818135 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 15818135 15818135 A C SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4269 p.D1423E 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 95 0 0 49 7 12.5 IGFALS 0 genome.wustl.edu 37 16 1841347 1841347 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 1841347 1841347 A C SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known missense c.1186 p.F396V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 101 0 0 20 3 13.0435 ZNF598 0 genome.wustl.edu 37 16 2052383 2052383 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 2052383 2052383 A C SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.719 p.F240C 1.000 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 222 0 0 40 12 23.0769 ABCC12 0 genome.wustl.edu 37 16 48173097 48173097 + Splice_Site SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 48173097 48173097 A G SNP ABCC12 ENST00000533639 human ensembl 74_37 -1 known splice_site c.806+2 e5+2 0.956 - - - no_errors ABCC12 HGNC ENSG00000140798 230 0 0 76 6 7.31707 SEPT12 0 genome.wustl.edu 37 16 4835891 4835891 + Splice_Site SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 4835891 4835891 T G SNP SEPT12 ENST00000268231 human ensembl 74_37 -1 known splice_site c.293-2 e3-2 1.000 - - - no_errors SEPT12 HGNC ENSG00000140623 125 0 0 45 6 11.7647 NUP93 0 genome.wustl.edu 37 16 56857749 56857749 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 56857749 56857749 T G SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.785 p.L262R 0.998 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 135 0 0 46 6 11.5385 NFATC3 0 genome.wustl.edu 37 16 68224974 68224974 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 68224974 68224974 C T SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.2402 p.S801F 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 377 0 0 204 14 6.42202 WDR24 0 genome.wustl.edu 37 16 737013 737013 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 737013 737013 C T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.1453 p.A485T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 36 0 0 13 3 18.75 ZFP1 0 genome.wustl.edu 37 16 75203884 75203884 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 75203884 75203884 A G SNP ZFP1 ENST00000393430 human ensembl 74_37 +1 known silent c.876 p.G292 0.937 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 ZFP1 HGNC ENSG00000184517 105 0 0 46 14 23.3333 DNAAF1 0 genome.wustl.edu 37 16 84189352 84189352 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 16 84189352 84189352 T G SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.739 p.L247V 0.001 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 92 0 0 44 4 8.33333 MYH8 0 genome.wustl.edu 37 17 10322320 10322320 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 10322320 10322320 A C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.238 p.F80V 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 122 0 0 66 17 20.4819 MYOCD 0 genome.wustl.edu 37 17 12656407 12656407 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 12656407 12656407 G T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.1802 p.C601F 0.005 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 196 1 0.507614 100 12 10.7143 TBC1D28 0 genome.wustl.edu 37 17 18541974 18541974 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 18541974 18541974 T G SNP TBC1D28 ENST00000345096 human ensembl 74_37 -1 known missense c.239 p.K80T 0.008 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D28 HGNC ENSG00000189375 159 0 0 59 11 15.7143 METTL16 0 genome.wustl.edu 37 17 2323552 2323552 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 2323552 2323552 C T SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known silent c.1401 p.R467 0.994 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 313 0 0 118 28 19.1781 SKAP1 0 genome.wustl.edu 37 17 46262125 46262125 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 46262125 46262125 G A SNP SKAP1 ENST00000336915 human ensembl 74_37 -1 known missense c.527 p.S176F 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 209 0 0 126 17 11.8881 GP1BA 0 genome.wustl.edu 37 17 4835939 4835939 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 4835939 4835939 T G SNP GP1BA ENST00000329125 human ensembl 74_37 +1 known missense c.40 p.L14V 0.481 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 246 0 0 51 9 15 SKA2 0 genome.wustl.edu 37 17 57232569 57232569 + RNA SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 57232569 57232569 C A SNP SKA2 ENST00000583927 human ensembl 74_37 -1 known rna NULL NULL 0.720 - - - no_errors SKA2 HGNC ENSG00000182628 172 1 0.578035 62 16 20.5128 FTSJ3 0 genome.wustl.edu 37 17 61897524 61897524 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 61897524 61897524 T G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known silent c.2266 p.R756 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 150 0 0 81 17 17.3469 SLC16A6 0 genome.wustl.edu 37 17 66267274 66267274 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 66267274 66267274 C T SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known missense c.1027 p.G343R 0.989 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 139 0 0 63 10 13.6986 EIF4A1 0 genome.wustl.edu 37 17 7476162 7476162 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 7476162 7476162 G A SNP EIF4A1 ENST00000293831 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC ENSG00000161960 218 0 0 104 13 11.1111 DNAH2 0 genome.wustl.edu 37 17 7671346 7671346 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 7671346 7671346 T C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.3804 p.F1268 0.997 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 111 0 0 57 12 17.3913 ENDOV 0 genome.wustl.edu 37 17 78409946 78409946 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 17 78409946 78409946 G A SNP ENDOV ENST00000518907 human ensembl 74_37 +1 putative missense c.146 p.R49H 0.000 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 78 0 0 30 5 14.2857 HRH4 0 genome.wustl.edu 37 18 22040828 22040828 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 18 22040828 22040828 C T SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.136 p.L46F 0.919 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 261 0 0 119 22 15.6028 COLEC12 0 genome.wustl.edu 37 18 480739 480739 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 18 480739 480739 T A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.26 p.E9V 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 138 0 0 40 14 25.9259 SMAD4 0 genome.wustl.edu 37 18 48604747 48604747 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 18 48604747 48604747 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known silent c.1569 p.C523 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 135 0 0 63 9 12.5 SMAD4 0 genome.wustl.edu 37 18 48604748 48604748 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 18 48604748 48604748 T A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1570 p.W524R 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 136 0 0 65 9 12.1622 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 57 0 0 9 5 35.7143 ZNF441 0 genome.wustl.edu 37 19 11891663 11891663 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 11891663 11891663 G A SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1024 p.G342R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 183 0 0 117 16 12.0301 RTBDN 0 genome.wustl.edu 37 19 12940627 12940627 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 12940627 12940627 G T SNP RTBDN ENST00000322912 human ensembl 74_37 -1 known missense c.263 p.A88E 0.049 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 60 0 0 21 3 12.5 FAM129C 0 genome.wustl.edu 37 19 17664149 17664149 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 17664149 17664149 T C SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1871 p.F624S 0.119 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 321 0 0 131 15 10.274 ZNF486 0 genome.wustl.edu 37 19 20295165 20295165 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 20295165 20295165 G A SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.31 p.E11K 0.330 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 477 0 0 167 19 10.2151 ZNF208 0 genome.wustl.edu 37 19 22157177 22157177 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 22157177 22157177 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.659 p.K220R 0.009 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 106 0 0 54 5 8.47458 ZNF676 0 genome.wustl.edu 37 19 22362948 22362948 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 22362948 22362948 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1571 p.K524T 0.060 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 127 0 0 79 17 17.7083 TLE2 0 genome.wustl.edu 37 19 3005565 3005565 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 3005565 3005565 G A SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1766 p.T589M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 42 0 0 13 5 27.7778 CD22 0 genome.wustl.edu 37 19 35832422 35832422 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 35832422 35832422 T A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.1684 p.S562T 0.883 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 168 0 0 36 8 18.1818 TBXA2R 0 genome.wustl.edu 37 19 3600235 3600235 + Splice_Site SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 3600235 3600235 C T SNP TBXA2R ENST00000589966 human ensembl 74_37 -1 putative splice_site c.397+1 e1+1 1.000 - - - no_errors TBXA2R HGNC ENSG00000006638 47 0 0 5 4 44.4444 APLP1 0 genome.wustl.edu 37 19 36369820 36369820 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 36369820 36369820 C A SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1679 p.P560H 1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 185 0 0 61 8 11.5942 TYROBP 0 genome.wustl.edu 37 19 36398163 36398163 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 36398163 36398163 G A SNP TYROBP ENST00000262629 human ensembl 74_37 -1 known missense c.233 p.A78V 0.842 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 26 0 0 5 3 37.5 ZNF566 0 genome.wustl.edu 37 19 36940481 36940481 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 36940481 36940481 T C SNP ZNF566 ENST00000392170 human ensembl 74_37 -1 known missense c.658 p.K220E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 125 0 0 72 22 23.4043 SNRPA 0 genome.wustl.edu 37 19 41263270 41263270 + Splice_Site SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 41263270 41263270 A G SNP SNRPA ENST00000599570 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SNRPA HGNC ENSG00000077312 88 0 0 30 4 11.7647 CYP2A13 0 genome.wustl.edu 37 19 41595958 41595958 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 41595958 41595958 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.350 p.A117V 0.109 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 47 0 0 14 5 26.3158 CCDC94 0 genome.wustl.edu 37 19 4249309 4249309 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 4249309 4249309 G A SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known missense c.109 p.A37T 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 47 0 0 19 4 17.3913 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 238 1 0.41841 43 20 31.746 PSG6 0 genome.wustl.edu 37 19 43420327 43420327 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 43420327 43420327 C T SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.377 p.R126Q 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 416 0 0 275 22 7.40741 PSG11 0 genome.wustl.edu 37 19 43528974 43528974 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 43528974 43528974 G T SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.299 p.T100K 0.513 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 443 0 0 229 29 11.2403 HDGFRP2 0 genome.wustl.edu 37 19 4475525 4475525 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 4475525 4475525 A C SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.233 p.N78T 1.000 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 122 0 0 43 4 8.51064 CCDC114 0 genome.wustl.edu 37 19 48807367 48807367 + Silent SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 48807367 48807367 C A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known silent c.585 p.L195 0.998 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 112 0 0 58 4 6.45161 SLC6A16 0 genome.wustl.edu 37 19 49813671 49813671 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 49813671 49813671 C A SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.512 p.G171V 0.996 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 49 0 0 17 5 22.7273 KCNC3 0 genome.wustl.edu 37 19 50826555 50826555 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 50826555 50826555 T G SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.1655 p.K552T 1.000 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 72 0 0 22 6 21.4286 ZNF331 0 genome.wustl.edu 37 19 54080139 54080139 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 54080139 54080139 A G SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.325 p.K109E 0.366 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 ZNF331 HGNC ENSG00000130844 139 0 0 56 17 23.2877 KIR3DL1 0 genome.wustl.edu 37 19 55331283 55331283 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 55331283 55331283 A C SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.471 p.K157N 0.005 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 158 0 0 68 27 28.4211 PTPRH 0 genome.wustl.edu 37 19 55708037 55708037 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 55708037 55708037 G A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2110 p.R704W 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 98 0 0 49 9 15.5172 ZNF470 0 genome.wustl.edu 37 19 57088127 57088127 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 57088127 57088127 T C SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known silent c.330 p.D110 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 96 0 0 62 6 8.82353 ZNF805 0 genome.wustl.edu 37 19 57765493 57765493 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 57765493 57765493 T G SNP ZNF805 ENST00000414468 human ensembl 74_37 +1 known missense c.1306 p.F436V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ENSG00000204524 77 0 0 38 14 26.9231 ZNF551 0 genome.wustl.edu 37 19 58198809 58198809 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 58198809 58198809 G A SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.1166 p.R389K 0.005 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 138 0 0 86 17 16.5049 ELAVL1 0 genome.wustl.edu 37 19 8056617 8056617 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 8056617 8056617 G A SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.164 p.P55L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 169 0 0 86 11 11.3402 SLC9A2 0 genome.wustl.edu 37 2 103318883 103318883 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 103318883 103318883 A C SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.1767 p.K589N 1.000 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 105 0 0 49 9 15.5172 RGPD3 0 genome.wustl.edu 37 2 107049650 107049650 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 107049650 107049650 T G SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.2297 p.N766T 0.972 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 614 0 0 281 25 8.16993 PDIA6 0 genome.wustl.edu 37 2 10927522 10927522 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 10927522 10927522 C T SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known missense c.1057 p.A353T 0.966 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 119 0 0 50 13 20.6349 RANBP2 0 genome.wustl.edu 37 2 109383177 109383177 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 109383177 109383177 A T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.6182 p.K2061I 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 626 0 0 319 52 14.0162 MERTK 0 genome.wustl.edu 37 2 112786254 112786254 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 112786254 112786254 G A SNP MERTK ENST00000295408 human ensembl 74_37 +1 known nonsense c.2813 p.W938* 0.949 superfamily_Rhodanese-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 90 0 0 44 8 15.3846 TUBA3D 0 genome.wustl.edu 37 2 132240409 132240409 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 132240409 132240409 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known silent c.1341 p.G447 0.751 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 246 0 0 93 19 16.9643 CSRNP3 0 genome.wustl.edu 37 2 166535277 166535277 + Nonsense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 166535277 166535277 G T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known nonsense c.772 p.E258* 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 77 0 0 55 8 12.6984 TTN 0 genome.wustl.edu 37 2 179429558 179429558 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 179429558 179429558 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.73597 p.G24533S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 40 6 13.0435 FAM171B 0 genome.wustl.edu 37 2 187627498 187627498 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 187627498 187627498 A G SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.2429 p.K810R 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 49 0 0 33 7 17.5 SDPR 0 genome.wustl.edu 37 2 192711174 192711174 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 192711174 192711174 A C SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.478 p.F160V 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 29 0 0 15 2 11.7647 PRR21 0 genome.wustl.edu 37 2 240981444 240981444 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 240981444 240981444 C T SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.956 p.R319Q 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 180 0 0 60 7 10.4478 TMEM178A 0 genome.wustl.edu 37 2 39944200 39944200 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 39944200 39944200 G A SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known missense c.703 p.D235N 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 189 0 0 83 15 15.3061 SOCS5 0 genome.wustl.edu 37 2 46986595 46986595 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 46986595 46986595 A G SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.926 p.E309G 0.998 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 100 0 0 51 13 20.3125 ERLEC1 0 genome.wustl.edu 37 2 54014465 54014465 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 54014465 54014465 G A SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.118 p.D40N 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 177 0 0 64 4 5.88235 EFEMP1 0 genome.wustl.edu 37 2 56144910 56144910 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 56144910 56144910 T G SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.407 p.N136T 1.000 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 138 0 0 46 9 16.3636 FAM161A 0 genome.wustl.edu 37 2 62066566 62066566 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 62066566 62066566 G T SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.1573 p.Q525K 0.150 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 123 0 0 34 3 8.10811 RAB11FIP5 0 genome.wustl.edu 37 2 73303283 73303283 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 73303283 73303283 G A SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known silent c.1596 p.A532 0.003 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 367 0 0 123 13 9.55882 PROM2 0 genome.wustl.edu 37 2 95947106 95947106 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 2 95947106 95947106 T C SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.1544 p.L515P 0.998 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 74 0 0 27 4 12.9032 ERGIC3 0 genome.wustl.edu 37 20 34136347 34136347 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 20 34136347 34136347 C T SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.547 p.R183W 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 59 0 0 35 5 12.5 ZNF831 0 genome.wustl.edu 37 20 57829765 57829765 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 20 57829765 57829765 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.5001 p.S1667 0.949 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 123 0 0 47 7 12.963 ABCG1 0 genome.wustl.edu 37 21 43714709 43714709 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 21 43714709 43714709 T G SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2185 p.F729V 1.000 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 80 0 0 41 5 10.8696 ITGB2 0 genome.wustl.edu 37 21 46311735 46311735 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 21 46311735 46311735 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.1401 p.C467 0.279 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 92 0 0 23 3 11.5385 PI4KA 0 genome.wustl.edu 37 22 21066897 21066897 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 21066897 21066897 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.5679 p.C1893 0.710 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 10 0 0 7 4 36.3636 ZNF280B 0 genome.wustl.edu 37 22 22842771 22842771 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 22842771 22842771 T G SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known missense c.953 p.N318T 0.996 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 190 0 0 77 15 16.3043 SEZ6L 0 genome.wustl.edu 37 22 26692998 26692998 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 26692998 26692998 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1114 p.R372W 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 46 0 0 14 3 17.6471 SEZ6L 0 genome.wustl.edu 37 22 26695018 26695018 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 26695018 26695018 T C SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1231 p.S411P 0.975 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 66 0 0 28 2 6.66667 NEFH 0 genome.wustl.edu 37 22 29884869 29884869 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 29884869 29884869 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1240 p.G414S 1.000 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 177 0 0 79 9 10.2273 MTMR3 0 genome.wustl.edu 37 22 30421750 30421750 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 30421750 30421750 A G SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.3557 p.D1186G 1.000 superfamily_Znf_FYVE_PHD pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 150 0 0 56 13 18.8406 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 119 0 0 29 18 38.2979 PKDREJ 0 genome.wustl.edu 37 22 46657285 46657285 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 22 46657285 46657285 C A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1935 p.L645F 0.132 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 213 1 0.46729 74 10 11.9048 BBX 0 genome.wustl.edu 37 3 107491699 107491699 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 107491699 107491699 A C SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.1131 p.Q377H 0.182 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 109 0 0 62 15 19.4805 SLC6A11 0 genome.wustl.edu 37 3 10975851 10975851 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 10975851 10975851 C T SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.1574 p.A525V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 127 0 0 59 4 6.34921 ANKRD28 0 genome.wustl.edu 37 3 15778572 15778572 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 15778572 15778572 A T SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.529 p.L177I 0.530 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 219 0 0 85 18 17.4757 GHSR 0 genome.wustl.edu 37 3 172162986 172162986 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 172162986 172162986 A G SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.1066 p.S356P 1.000 prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 215 0 0 119 10 7.75194 PIK3CA 0 genome.wustl.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 178917478 178917478 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.353 p.G118D 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 79 0 0 54 8 12.9032 PIK3CA 0 genome.wustl.edu 37 3 178917669 178917669 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 178917669 178917669 T C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.544 p.Y182H 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 141 0 0 70 19 21.3483 SCN11A 0 genome.wustl.edu 37 3 38951654 38951654 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 38951654 38951654 G T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1004 p.P335H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 119 0 0 51 4 7.27273 ZKSCAN7 0 genome.wustl.edu 37 3 44611431 44611431 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 44611431 44611431 A G SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.829 p.K277E 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 218 0 0 82 17 17.1717 CDCP1 0 genome.wustl.edu 37 3 45153868 45153868 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 45153868 45153868 A C SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known missense c.362 p.L121R 1.000 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 454 0 0 129 26 16.7742 SCAP 0 genome.wustl.edu 37 3 47456465 47456465 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 47456465 47456465 C A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.3158 p.S1053I 0.550 superfamily_WD40_repeat_dom pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 66 0 0 29 9 23.6842 RHOA 0 genome.wustl.edu 37 3 49413010 49413010 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 49413010 49413010 G A SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.13 p.R5W 0.997 superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 107 0 0 64 15 18.9873 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 266 0 0 50 5 9.09091 RBM6 0 genome.wustl.edu 37 3 50103862 50103862 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 50103862 50103862 G T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2870 p.C957F 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 324 0 0 122 10 7.57576 CACNA2D3 0 genome.wustl.edu 37 3 55038842 55038842 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 3 55038842 55038842 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2743 p.D915N 0.929 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 109 0 0 39 4 9.30233 CENPE 0 genome.wustl.edu 37 4 104030045 104030045 + Silent SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 104030045 104030045 A C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.7926 p.S2642 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 123 0 0 74 12 13.9535 NDST4 0 genome.wustl.edu 37 4 115998026 115998026 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 115998026 115998026 T G SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.167 p.K56T 0.983 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 59 0 0 55 6 9.83607 HSPA4L 0 genome.wustl.edu 37 4 128726362 128726362 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 128726362 128726362 A G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1213 p.R405G 0.998 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 77 0 0 33 5 13.1579 PCDH10 0 genome.wustl.edu 37 4 134072953 134072953 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 134072953 134072953 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1658 p.A553V 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 134 0 0 68 7 9.33333 TRIM2 0 genome.wustl.edu 37 4 154216607 154216607 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 154216607 154216607 A G SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.929 p.E310G 0.997 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 76 0 0 24 3 11.1111 GALNT7 0 genome.wustl.edu 37 4 174169235 174169235 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 174169235 174169235 A G SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known silent c.231 p.G77 0.942 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 100 0 0 47 6 11.3208 WWC2 0 genome.wustl.edu 37 4 184233538 184233538 + Missense_Mutation SNP G G C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 184233538 184233538 G C SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.3501 p.E1167D 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 217 0 0 62 9 12.6761 SEL1L3 0 genome.wustl.edu 37 4 25849031 25849031 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 25849031 25849031 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known silent c.618 p.Q206 0.010 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 112 0 0 38 3 7.31707 NSG1 0 genome.wustl.edu 37 4 4389469 4389469 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 4389469 4389469 T C SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.113 p.F38S 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 110 1 0.900901 38 6 13.6364 DCK 0 genome.wustl.edu 37 4 71889409 71889409 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 71889409 71889409 C A SNP DCK ENST00000286648 human ensembl 74_37 +1 known missense c.535 p.Q179K 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 113 0 0 55 11 16.6667 SLC4A4 0 genome.wustl.edu 37 4 72316960 72316960 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 4 72316960 72316960 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.1264 p.D422N 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 100 1 0.990099 48 5 9.43396 NRG2 0 genome.wustl.edu 37 5 139422125 139422125 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 139422125 139422125 T C SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.530 p.E177G 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 69 0 0 23 3 11.5385 PCDHB5 0 genome.wustl.edu 37 5 140516596 140516596 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 140516596 140516596 A G SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1580 p.E527G 0.878 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 162 0 0 74 9 10.8434 PCDHB15 0 genome.wustl.edu 37 5 140627353 140627353 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 140627353 140627353 T A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.2207 p.L736Q 0.026 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 360 0 0 152 28 15.5556 PCDHGA2 0 genome.wustl.edu 37 5 140719560 140719560 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 140719560 140719560 A C SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1022 p.N341T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 218 0 0 112 25 18.2482 LSM11 0 genome.wustl.edu 37 5 157181043 157181043 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 157181043 157181043 A C SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.620 p.K207T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 110 0 0 43 11 20.3704 ENSG00000250992 0 genome.wustl.edu 37 5 175467765 175467765 + RNA SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 175467765 175467765 A C SNP ENSG00000250992 ENST00000509643 human ensembl 74_37 +1 known rna NULL NULL 0.538 - - - no_errors RP11-826N14.1 Clone_based_vega_gene ENSG00000250992 47 0 0 17 3 15 RAI14 0 genome.wustl.edu 37 5 34811167 34811167 + Silent SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 34811167 34811167 C A SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.510 p.I170 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 388 0 0 178 31 14.8325 BDP1 0 genome.wustl.edu 37 5 70811942 70811942 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 5 70811942 70811942 T C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.4704 p.T1568 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 40 0 0 15 3 16.6667 CEP85L 0 genome.wustl.edu 37 6 118804953 118804953 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 118804953 118804953 T G SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.1515 p.K505N 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 87 0 0 50 7 12.2807 TBC1D7 0 genome.wustl.edu 37 6 13307828 13307828 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 13307828 13307828 T G SNP TBC1D7 ENST00000607658 human ensembl 74_37 -1 novel missense c.588 p.Q196H 1.000 NULL NULL - no_errors TBC1D7 HGNC ENSG00000145979 234 0 0 81 17 17.3469 EYA4 0 genome.wustl.edu 37 6 133846387 133846387 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 133846387 133846387 A G SNP EYA4 ENST00000367895 human ensembl 74_37 +1 known missense c.1834 p.K612E 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 93 0 0 54 4 6.89655 RANBP9 0 genome.wustl.edu 37 6 13644914 13644914 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 13644914 13644914 G A SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known silent c.975 p.V325 0.333 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 126 0 0 73 16 17.9775 PCMT1 0 genome.wustl.edu 37 6 150123407 150123407 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 150123407 150123407 G A SNP PCMT1 ENST00000367384 human ensembl 74_37 +1 known silent c.750 p.L250 1.000 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 85 0 0 45 3 6.25 ULBP1 0 genome.wustl.edu 37 6 150290454 150290454 + Nonsense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 150290454 150290454 G T SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known nonsense c.583 p.E195* 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 273 1 0.364964 104 10 8.77193 RSPH3 0 genome.wustl.edu 37 6 159420551 159420551 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 159420551 159420551 C T SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.458 p.R153Q 0.004 NULL pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 123 0 0 65 4 5.7971 TTLL2 0 genome.wustl.edu 37 6 167754950 167754950 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 167754950 167754950 T C SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1562 p.L521P 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 124 0 0 50 11 18.0328 GABBR1 0 genome.wustl.edu 37 6 29574733 29574733 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 29574733 29574733 T C SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.2158 p.M720V 0.965 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 127 0 0 50 9 15.2542 HLA-B 0 genome.wustl.edu 37 6 31323293 31323293 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 31323293 31323293 G T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.696 p.F232L 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 209 0 0 88 9 9.27835 HLA-B 0 genome.wustl.edu 37 6 31323294 31323294 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 31323294 31323294 A T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.695 p.F232Y 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 215 0 0 89 9 9.18367 TUBB2B 0 genome.wustl.edu 37 6 3226489 3226489 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 3226489 3226489 G A SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.181 p.P61S 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 55 0 0 25 5 16.6667 HCRTR2 0 genome.wustl.edu 37 6 55145185 55145185 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 6 55145185 55145185 C T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.1048 p.H350Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 100 0 0 96 13 11.9266 PRKRIP1 0 genome.wustl.edu 37 7 102016313 102016313 + RNA SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 102016313 102016313 A G SNP PRKRIP1 ENST00000469763 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRKRIP1 HGNC ENSG00000128563 229 0 0 90 17 15.8879 FOXP2 0 genome.wustl.edu 37 7 114210930 114210930 + Silent SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 114210930 114210930 A T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.327 p.T109 0.993 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 146 0 0 83 10 10.7527 MET 0 genome.wustl.edu 37 7 116397506 116397506 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 116397506 116397506 T G SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.1878 p.V626 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 51 0 0 43 9 17.3077 AKR1B1 0 genome.wustl.edu 37 7 134136460 134136460 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 134136460 134136460 C T SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known missense c.112 p.V38I 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 65 0 0 36 4 10 BRAF 0 genome.wustl.edu 37 7 140453133 140453133 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 140453133 140453133 T G SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1802 p.K601T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 113 0 0 61 13 17.5676 FAM115C 0 genome.wustl.edu 37 7 143421819 143421819 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 143421819 143421819 G A SNP FAM115C ENST00000357344 human ensembl 74_37 +1 known missense c.2534 p.G845E 0.000 NULL NULL - no_errors FAM115C HGNC ENSG00000170379 133 0 0 47 6 11.3208 OSBPL3 0 genome.wustl.edu 37 7 24905028 24905028 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 24905028 24905028 A G SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.606 p.S202 0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 258 1 0.3861 171 23 11.8557 DPY19L1 0 genome.wustl.edu 37 7 35057571 35057571 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 35057571 35057571 T G SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.115 p.T39P 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 106 0 0 52 4 7.14286 GLI3 0 genome.wustl.edu 37 7 42005274 42005274 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 42005274 42005274 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3397 p.G1133R 0.137 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 181 0 0 116 12 9.375 POM121 0 genome.wustl.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 72413896 72413896 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3364 p.T1122A 0.152 NULL NULL - no_errors POM121 HGNC ENSG00000196313 61 0 0 21 3 12.5 ZSCAN21 0 genome.wustl.edu 37 7 99655484 99655484 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 99655484 99655484 A C SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.563 p.E188A 0.056 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 ZSCAN21 HGNC ENSG00000166529 74 0 0 20 4 16.6667 STAG3 0 genome.wustl.edu 37 7 99808704 99808704 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 7 99808704 99808704 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.3309 p.P1103 0.006 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 155 0 0 52 11 17.4603 ZFPM2 0 genome.wustl.edu 37 8 106813505 106813505 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 106813505 106813505 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1195 p.H399Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 128 0 0 69 9 11.5385 CSMD3 0 genome.wustl.edu 37 8 113418874 113418874 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 113418874 113418874 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.5688 p.V1896 0.747 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 128 0 0 71 10 12.3457 COL14A1 0 genome.wustl.edu 37 8 121170389 121170389 + Silent SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 121170389 121170389 A C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.109 p.R37 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 69 0 0 36 5 12.1951 NAPRT1 0 genome.wustl.edu 37 8 144658639 144658639 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 144658639 144658639 G A SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known nonsense c.985 p.Q329* 0.995 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 53 0 0 25 3 10.7143 CLN8 0 genome.wustl.edu 37 8 1728422 1728422 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 1728422 1728422 T G SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known missense c.550 p.W184G 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 115 0 0 57 11 16.1765 WRN 0 genome.wustl.edu 37 8 30938688 30938688 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 30938688 30938688 A C SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.1145 p.K382T 0.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 89 0 0 45 5 10 RP1 0 genome.wustl.edu 37 8 55542502 55542502 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 8 55542502 55542502 T G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.6060 p.N2020K 0.011 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 136 0 0 65 11 14.4737 INVS 0 genome.wustl.edu 37 9 103015323 103015323 + Nonsense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 103015323 103015323 A T SNP INVS ENST00000262457 human ensembl 74_37 +1 known nonsense c.1369 p.R457* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 131 0 0 49 5 9.25926 TXN 0 genome.wustl.edu 37 9 113006393 113006393 + RNA SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 113006393 113006393 A C SNP TXN ENST00000487892 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors TXN HGNC ENSG00000136810 40 0 0 9 2 18.1818 C9orf84 0 genome.wustl.edu 37 9 114454546 114454546 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 114454546 114454546 T G SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.3519 p.K1173N 0.021 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 166 0 0 101 11 9.82143 SLC46A2 0 genome.wustl.edu 37 9 115651953 115651953 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 115651953 115651953 C T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known missense c.1009 p.G337S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 43 0 0 24 4 14.2857 TNC 0 genome.wustl.edu 37 9 117835903 117835903 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 117835903 117835903 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3193 p.A1065T 0.004 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 58 0 0 39 9 18.75 OR1B1 0 genome.wustl.edu 37 9 125391471 125391471 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 125391471 125391471 A G SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.344 p.L115P 0.391 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 65 0 0 38 7 15.5556 DBH 0 genome.wustl.edu 37 9 136516786 136516786 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 136516786 136516786 G A SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.1222 p.A408T 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 104 0 0 27 9 25 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 181 1 0.549451 48 12 20 SOHLH1 0 genome.wustl.edu 37 9 138588459 138588459 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 138588459 138588459 T C SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known silent c.660 p.S220 0.027 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 74 0 0 19 4 17.3913 TUBBP5 0 genome.wustl.edu 37 9 141070064 141070064 + RNA SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 141070064 141070064 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 78 0 0 25 7 21.875 MLLT3 0 genome.wustl.edu 37 9 20414419 20414419 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 20414419 20414419 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.425 p.P142L 0.993 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 55 0 0 35 4 10.2564 PIGO 0 genome.wustl.edu 37 9 35091599 35091599 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 9 35091599 35091599 G A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.2285 p.P762L 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 140 0 0 54 6 10 ZMAT1 0 genome.wustl.edu 37 X 101138752 101138752 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 101138752 101138752 T C SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.1647 p.K549 0.884 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 122 0 0 69 12 14.8148 GLRA4 0 genome.wustl.edu 37 X 102978850 102978850 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 102978850 102978850 A T SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known missense c.511 p.S171T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 110 0 0 51 10 16.3934 AIFM1 0 genome.wustl.edu 37 X 129267364 129267364 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 129267364 129267364 C T SNP AIFM1 ENST00000287295 human ensembl 74_37 -1 known missense c.1372 p.A458T 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 832 0 0 351 52 12.9032 SAGE1 0 genome.wustl.edu 37 X 134987488 134987488 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 134987488 134987488 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.391 p.A131T 0.012 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 170 0 0 85 22 20.5607 SAGE1 0 genome.wustl.edu 37 X 134991106 134991106 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 134991106 134991106 C A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.1525 p.P509T 0.004 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 135 0 0 71 9 11.25 MAMLD1 0 genome.wustl.edu 37 X 149639020 149639020 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 149639020 149639020 C T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1100 p.T367M 0.359 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 320 0 0 135 25 15.625 GABRA3 0 genome.wustl.edu 37 X 151424324 151424324 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 151424324 151424324 T C SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known silent c.477 p.S159 0.031 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 237 0 0 132 26 16.4557 F8 0 genome.wustl.edu 37 X 154225316 154225316 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 154225316 154225316 A C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.320 p.L107R 0.995 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 395 0 0 144 30 17.2414 BCOR 0 genome.wustl.edu 37 X 39916463 39916463 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 39916463 39916463 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.4540 p.R1514* 0.936 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 76 0 0 36 6 14.2857 MED14 0 genome.wustl.edu 37 X 40513617 40513617 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 40513617 40513617 T G SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.4290 p.Q1430H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 116 0 0 54 9 14.2857 USP9X 0 genome.wustl.edu 37 X 41027344 41027344 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 41027344 41027344 A G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.2509 p.K837E 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 129 0 0 64 16 20 ITIH6 0 genome.wustl.edu 37 X 54814956 54814956 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 54814956 54814956 A C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.743 p.V248G 0.007 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 89 0 0 36 4 10 ATRX 0 genome.wustl.edu 37 X 76918944 76918944 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 76918944 76918944 G T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4047 p.D1349E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 82 0 0 45 7 13.4615 BRWD3 0 genome.wustl.edu 37 X 79978189 79978189 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 79978189 79978189 A C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1748 p.L583R 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 142 0 0 95 8 7.76699 CYLC1 0 genome.wustl.edu 37 X 83128752 83128752 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 83128752 83128752 G T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1036 p.D346Y 0.488 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 48 0 0 29 5 14.7059 RPA4 0 genome.wustl.edu 37 X 96139827 96139827 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 X 96139827 96139827 G A SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.518 p.R173H 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 134 1 0.740741 96 13 11.9266 ZC3H12A 0 genome.wustl.edu 37 1 37949086 37949087 + Frame_Shift_Ins INS - - A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 1 37949086 37949087 - A INS ZC3H12A ENST00000373087 human ensembl 74_37 +1 known frame_shift_ins c.1674_1675 p.L559fs 0.954:1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 166 0 0 65 7 9.72222 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1954126 1954127 + RNA INS - - A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 19 1954126 1954127 - A INS CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 52 0 0 34 2 5.55556